Taille (hg19) : 11,900,000 bases - Taille (hg38) : 11,911,321 bases
CNV-Hub AChro-Puce
Probablement pathogénique
Criètres AChro-Puce pris en compte 1
Class
4 Major
Gène haploinsuffisant
Class
4 Minor
Pas d'occurrence dans DGV / DGV-Gold > 50 % de chevauchement
Class
4 Minor
CNV de plus ou au moins 1 Mb.
ISV 2
XCNV 3
ClassifyCNV ACMG 4
AnnotSV ACMG 5
ACMG critères
ClassifyCNV
2A
+
1
Complete overlap of an established HI gene/genomic region.
2H
+
0.15
Multiple HI predictors suggest that AT LEAST ONE gene in the interval is haploinsufficient (HI).
3C
+
0.9
Number of protein-coding RefSeq genes wholly or partially included in the CNV region.
AnnotSV
2A
+
1
Complete overlap of an established HI gene/genomic region.
3C
+
0.9
Number of protein-coding RefSeq genes wholly or partially included in the CNV region.
Maladies :
| Gène | Maladie | Source | Transmission héréditaire |
|---|---|---|---|
| SH2B1 | Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency | Orphanet | Autosomal dominant |
| KIF22 | Spondyloepimetaphyseal dysplasia with multiple dislocations | Orphanet | Autosomal dominant |
| TBX6 | Autosomal dominant spondylocostal dysostosis | Orphanet | Autosomal dominant |
| SRCAP | Floating-Harbor syndrome | Orphanet | Autosomal dominant |
| STX1B | Generalized epilepsy with febrile seizures-plus | Orphanet | Autosomal dominant |
| ATP2A1 | Brody myopathy | Orphanet | Autosomal dominant, Autosomal recessive |
| SLC5A2 | Familial renal glucosuria | Orphanet | Autosomal dominant, Autosomal recessive |
| CD19 | Common variable immunodeficiency | Orphanet | Autosomal dominant, Autosomal recessive, Not applicable |
| KAT8 | Non-specific syndromic intellectual disability | Orphanet | Autosomal dominant, Autosomal recessive, X-linked recessive |
| PRRT2 | Paroxysmal exertion-induced dyskinesia | Orphanet | Autosomal dominant, Not applicable |
| ARMC5 | Cushing syndrome due to macronodular adrenal hyperplasia | Orphanet | Autosomal dominant, Not applicable |
| IL21R | Combined immunodeficiency due to IL21R deficiency | Orphanet | Autosomal recessive |
| KATNIP | Joubert syndrome | Orphanet | Autosomal recessive |
| CLN3 | CLN3 disease | Orphanet | Autosomal recessive |
| TUFM | Combined oxidative phosphorylation defect type 4 | Orphanet | Autosomal recessive |
| ALDOA | Glycogen storage disease due to aldolase A deficiency | Orphanet | Autosomal recessive |
| CORO1A | Severe combined immunodeficiency due to CORO1A deficiency | Orphanet | Autosomal recessive |
| HSD3B7 | Congenital bile acid synthesis defect type 1 | Orphanet | Autosomal recessive |
| VKORC1 | Hereditary combined deficiency of vitamin K-dependent clotting factors | Orphanet | Autosomal recessive |
| BCKDK | Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency | Orphanet | Autosomal recessive |
| COX6A2 | Isolated cytochrome C oxidase deficiency | Orphanet | Autosomal recessive, Mitochondrial inheritance |
| PHKG2 | Glycogen storage disease due to liver phosphorylase kinase deficiency | Orphanet | Autosomal recessive, X-linked recessive |
| FUS | Myxoid/round cell liposarcoma | Orphanet | Not applicable |
| ITGAM | Systemic lupus erythematosus | Orphanet | Not applicable |
| LAT | Severe combined immunodeficiency due to LAT deficiency | Orphanet | |
| MYL11 | mylpf arthrogryposis (monoallelic) | DDG2P | |
| SETD1A | intellectual disability | DDG2P |
ClinGen
0 bénin CNV0 probablement bénin CNV
0 incertain CNV
0 probablement pathogénique CNV
0 pathogénique CNV
70% Chevauchement
Decipher
0 bénin CNV0 inconnu CNV
0 incertain CNV
0 pathogénique CNV
70% Chevauchement
DGV-Gold
0
80% Chevauchement
0
50% Chevauchement
DGV
0
80% Chevauchement
0
50% Chevauchement
Étude de Coe & Al 6
0
Cas Patient
70% Chevauchement
0
Cas Contrôle
70% Chevauchement
Gènes avec pHaplo > 0.55 7
15
TNRC6A ARHGAP17 KDM8 IL21R GTF3C1 XPO6 ATXN2L MAZ TAOK2 SRCAP ZNF629 FBXL19 SETD1A FUS
Gènes avec pTriplo > 0.68 7
36
TNRC6A ARHGAP17 GTF3C1 XPO6 ATXN2L TUFM SH2B1 SPNS1 SLX1B MAZ SEZ6L2 TAOK2 PPP4C MAPK3 CORO1A TBC1D10B SEPHS2 ZNF768 ZNF689 PRR14 FBRS SRCAP PHKG2 RNF40 ZNF629 FBXL19 SETD1A STX1B ZNF668 ZNF646 VKORC1 KAT8 FUS ARMC5
Gènes dans OMIM
107
Sources et références
1 : AChroPuce Consortium Recommandations pour l’interpretation Clinique des CNV (Copy Number Variations) Septembre 2022.
2 : Automated prediction of the clinical impact of structural copy number variations : M. Gažiová, T. Sládeček, O. Pös, M. Števko, W. Krampl, Z. Pös, R. Hekel, M. Hlavačka, M. Kucharík, J. Radvánszky, J. Budiš & T. Szemes View article
3 : Zhang L, Shi J, Ouyang J, Zhang R, Tao Y, Yuan D, et al X CNV genome wide prediction of the pathogenicity of copy number variations Genome Med 2021 13 132.
4 : Gurbich, T.A., Ilinsky, V.V. ClassifyCNV: a tool for clinical annotation of copy-number variants. Sci Rep 10, 20375 (2020). View article
5 : Geoffroy V, Herenger Y, Kress A, et al. AnnotSV: an integrated tool for structural variations annotation. Bioinforma Oxf Engl. 2018;34(20):3572-3574. doi:10.1093/bioinformatics/bty304
6 : Coe BP, Witherspoon K, Rosenfeld JA, van Bon BWM, Vulto van Silfhout AT, Bosco P, et al Refining analyses of copy number variation identifies specific genes associated with developmental delay Nat Genet 2014 46 1063 71
7 : Collins RL, Glessner JT, Porcu E, Lepamets M, Brandon R, Lauricella C, et al A cross disorder dosage sensitivity map of the human genome Cell 2022 185 3041 3055 e 25
107 Gènes OMIM chevauchés
Télécharger les gèenes en .csv
pLI : 0.8
LOEUF : 0.49
sHet : 0.015
pHaplo : 0.53
pTriplo : 0.44
Localisation : 25,703,280 - 26,149,006
Localisation : 25,703,280 - 26,149,006
Base de donnée :
DecipherGenomics OMIM:604059 GTEx Portal Human Protein Atlas Ensembl
pLI : 0.77
LOEUF : 0.46
sHet : 0.035
pHaplo : 0.51
pTriplo : 0.58
Localisation : 27,798,849 - 28,075,035
Localisation : 27,798,849 - 28,075,035
Base de donnée :
DecipherGenomics OMIM:617161 GTEx Portal Human Protein Atlas Ensembl
pLI : 0
LOEUF : 0.91
Localisation : 27,561,454 - 27,791,665
Localisation : 27,561,454 - 27,791,665
Maladie : Joubert syndrome
Source : Orphanet
Base de donnée :
DecipherGenomics OMIM:616650 Orphanet:475 HGNC:29068 PMID:26714646 GTEx Portal Human Protein Atlas Ensembl
Human Phenotype Ontology Montrer/Cacher
| HP:0002876 | Episodic tachypnea | Episodes of very rapid breathing. |
|---|---|---|
| HP:0000276 | Long face | Facial height (length) is more than 2 standard deviations above the mean (objective); or, an apparent increase in the height (length) of the face (subjective). |
| HP:0001250 | Seizure | A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. |
| HP:0000175 | Cleft palate | Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate). |
| HP:0001161 | Hand polydactyly | A kind of polydactyly characterized by the presence of a supernumerary finger or fingers. |
| HP:0000657 | Oculomotor apraxia | Ocular motor apraxia is a deficiency in voluntary, horizontal, lateral, fast eye movements (saccades) with retention of slow pursuit movements. The inability to follow objects visually is often compensated by head movements. There may be decreased smooth pursuit, and cancellation of the vestibulo-ocular reflex. |
| HP:0001288 | Gait disturbance | The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease. |
| HP:0001829 | Foot polydactyly | A kind of polydactyly characterized by the presence of a supernumerary toe or toes. |
| HP:0000508 | Ptosis | The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective). |
| HP:0003577 | Congenital onset | A phenotypic abnormality that is present at birth. |
| HP:0002084 | Encephalocele | A neural tube defect characterized by sac-like protrusions of the brain and the membranes that cover it through openings in the skull. |
| HP:0002793 | Abnormal pattern of respiration | An anomaly of the rhythm or depth of breathing. |
| HP:0002788 | Recurrent upper respiratory tract infections | An increased susceptibility to upper respiratory tract infections as manifested by a history of recurrent upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis). |
| HP:0000007 | Autosomal recessive inheritance | A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). |
| HP:0004322 | Short stature | A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). |
| HP:0002251 | Aganglionic megacolon | An abnormality resulting from a lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) that results in bowel obstruction with enlargement of the colon. |
| HP:0000054 | Micropenis | Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm. |
| HP:0000612 | Iris coloboma | A coloboma of the iris. |
| HP:0001251 | Ataxia | Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly). |
| HP:0000463 | Anteverted nares | Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip). |
| HP:0002553 | Highly arched eyebrow | Increased height of the central portion of the eyebrow, forming a crescent, semicircular, or inverted U shape. |
| HP:0000639 | Nystagmus | Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms. |
| HP:0002650 | Scoliosis | The presence of an abnormal lateral curvature of the spine. |
| HP:0410030 | Cleft lip | A gap in the lip or lips. |
| HP:0001249 | Intellectual disability | Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70. |
| HP:0000871 | Panhypopituitarism | A pituitary functional deficit affecting all the anterior pituitary hormones (growth hormone, thyroid-stimulating hormone, follicle-stimulating hormone, luteinizing hormone, adrenocorticotropic hormone, and prolactin). |
| HP:0000238 | Hydrocephalus | Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation. |
| HP:0002126 | Polymicrogyria | Polymicrogyria is a congenital malformation of the cerebral cortex characterized by abnormal cortical layering (lamination) and an excessive number of small gyri (folds). |
| HP:0001252 | Hypotonia | Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist. |
| HP:0000202 | Orofacial cleft | The presence of a cleft in the oral cavity, the two main types of which are cleft lip and cleft palate. In cleft lip, there is the congenital failure of the maxillary and median nasal processes to fuse, forming a groove or fissure in the lip. In cleft palate, there is a congenital failure of the palate to fuse properly, forming a grooved depression or fissure in the roof of the mouth. Clefts of the lip and palate can occur individually or together. It is preferable to code each defect separately. |
| HP:0002104 | Apnea | Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event. |
| HP:0001696 | Situs inversus totalis | A left-right reversal (or "mirror reflection") of the anatomical location of the major thoracic and abdominal organs. |
| HP:0002269 | Abnormality of neuronal migration | An abnormality resulting from an anomaly of neuronal migration, i.e., of the process by which neurons travel from their origin to their final position in the brain. |
| HP:0001290 | Generalized hypotonia | Generalized muscular hypotonia (abnormally low muscle tone). |
| HP:0000369 | Low-set ears | Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear. |
| HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | Absence or underdevelopment of the corpus callosum. |
| HP:0008872 | Feeding difficulties in infancy | Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention. |
| HP:0011787 | Central hypothyroidism | A type of hypothyroidism due to an insufficient stimulation of an otherwise normal thyroid gland. Central hypothyroidism is caused by either pituitary (secondary hypothyroidism) or hypothalamic (tertiary hypothyroidism) defects. |
| HP:0004422 | Biparietal narrowing | A narrowing of the biparietal diameter (i.e., of the transverse distance between the protuberances of the two parietal bones of the skull). |
| HP:0001263 | Global developmental delay | A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age. |
| HP:0000426 | Prominent nasal bridge | Anterior positioning of the nasal root in comparison to the usual positioning for age. |
| HP:0001337 | Tremor | An unintentional, oscillating to-and-fro muscle movement about a joint axis. |
| HP:0000824 | Decreased response to growth hormone stimulation test | Insufficient responses to growth hormone (GH) provocation tests. GH deficiency is defined as a serum peak GH concentration less than 10 ng/mL on provocation with a combination of at least two separate stimulation tests. |
| HP:0000316 | Hypertelorism | Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes). |
| HP:0001320 | Cerebellar vermis hypoplasia | Underdevelopment of the vermis of cerebellum. |
| HP:0000486 | Strabismus | A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error. |
| HP:0030680 | Abnormal cardiovascular system morphology | Any structural anomaly of the heart and great vessels. |
| HP:0003312 | Abnormal form of the vertebral bodies | Abnormal morphology of vertebral body. |
| HP:0002007 | Frontal bossing | Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline. |
| HP:0000864 | Abnormality of the hypothalamus-pituitary axis | Abnormality of the pituitary gland (also known as hypophysis), which is an endocrine gland that protrudes from the bottom of the hypothalamus at the base of the brain. The pituitary gland secretes the hormones ACTH, TSH, PRL, GH, endorphins, FSH, LH, oxytocin, and antidiuretic hormone. The secretion of hormones from the anterior pituitary is under the strict control of hypothalamic hormones, and the posterior pituitary is essentially an extension of the hypothalamus, so that hypothalamus and pituitary gland may be regarded as a functional unit. |
pLI : 1
LOEUF : 0.16
sHet : 0.121
pHaplo : 1
pTriplo : 0.91
Localisation : 24,621,530 - 24,838,953
Localisation : 24,621,530 - 24,838,953
Base de donnée :
DecipherGenomics OMIM:610739 GTEx Portal Human Protein Atlas Ensembl
Human Phenotype Ontology Montrer/Cacher
| HP:0003581 | Adult onset | Onset of disease manifestations in adulthood, defined here as at the age of 16 years or later. |
|---|---|---|
| HP:0033054 | Myoclonic tremor | A tremor-like cortical myoclonus. The tremulous movements are in fact small, high-frequency myoclonic jerks, induced by posture or action. They can be mild, but can also be more incapacitating. When present in the lower limbs, these may lead to gait disorders and even drop attacks. These tremor-like movements during action can be mistaken for essential tremor or epileptic seizures. |
| HP:0000006 | Autosomal dominant inheritance | A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. |
pLI : 1
LOEUF : 0.08
sHet : 0.374
pHaplo : 0.97
pTriplo : 0.71
Localisation : 28,109,297 - 28,223,286
Localisation : 28,109,297 - 28,223,286
Base de donnée :
DecipherGenomics OMIM:608411 GTEx Portal Human Protein Atlas Ensembl
pLI : 0.02
LOEUF : 0.44
sHet : 0.151
pHaplo : 0.8
pTriplo : 0.69
Localisation : 24,930,710 - 25,026,987
Localisation : 24,930,710 - 25,026,987
Base de donnée :
DecipherGenomics OMIM:608293 GTEx Portal Human Protein Atlas Ensembl
pLI : 1
LOEUF : 0.17
sHet : 0.058
pHaplo : 0.98
pTriplo : 0.98
Localisation : 27,470,876 - 27,561,234
Localisation : 27,470,876 - 27,561,234
Base de donnée :
DecipherGenomics OMIM:603246 GTEx Portal Human Protein Atlas Ensembl
pLI : 0
LOEUF : 0.64
sHet : 0.005
pHaplo : 0.1
pTriplo : 0.21
Localisation : 31,271,288 - 31,344,213
Localisation : 31,271,288 - 31,344,213
Maladie : Systemic lupus erythematosus
Source : Orphanet
Base de donnée :
DecipherGenomics PanelApp OMIM:120980 Orphanet:536 HGNC:6149 PMID:19286673 PMID:23917156 PMID:23943494 GTEx Portal Human Protein Atlas Ensembl
Human Phenotype Ontology Montrer/Cacher
| HP:0032235 | Anti-La/SS-B antibody positivity | The presence of autoantibodies in the blood circulation that react against La/SSB autoantigens. |
|---|---|---|
| HP:0012085 | Pyuria | The presence of 10 or more white cells per cubic millimeter in a urine specimen, 3 or more white cells per high-power field of unspun urine, a positive result on Gram staining of an unspun urine specimen, or a urinary dipstick test that is positive for leukocyte esterase. |
| HP:0003493 | Antinuclear antibody positivity | The presence of autoantibodies in the serum that react against nuclei or nuclear components. |
| HP:0001250 | Seizure | A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. |
| HP:0025300 | Malar rash | An erythematous (red), flat facial rash that affects the skin in the malar area (over the cheekbones) and extends over the bridge of the nose. |
| HP:0003453 | Antineutrophil antibody positivity | The presence of autoantibodies in the serum that react against neutrophils. |
| HP:0033028 | Anti-U1 ribonucleoprotein antibody positivity | The presence autoantibodies in the serum that react to proteins (70 Kd, A, C) that are associated with U1 RNA and form U1snRNP. |
| HP:0100669 | Abnormal pigmentation of the oral mucosa | An abnormality of the pigmentation of the mucosa of the mouth. |
| HP:0002072 | Chorea | Chorea (Greek for 'dance') refers to widespread arrhythmic involuntary movements of a forcible, jerky and restless fashion. It is a random-appearing sequence of one or more discrete involuntary movements or movement fragments. Movements appear random because of variability in timing, duration or location. Each movement may have a distinct start and end. However, movements may be strung together and thus may appear to flow randomly from one muscle group to another. Chorea can involve the trunk, neck, face, tongue, and extremities. |
| HP:0001878 | Hemolytic anemia | A type of anemia caused by premature destruction of red blood cells (hemolysis). |
| HP:0000155 | Oral ulcer | Erosion of the mucous mebrane of the mouth with local excavation of the surface, resulting from the sloughing of inflammatory necrotic tissue. |
| HP:0001873 | Thrombocytopenia | A reduction in the number of circulating thrombocytes. |
| HP:0030880 | Raynaud phenomenon | |
| HP:0045073 | Serositis | Inflammation in any serous cavity. |
| HP:0000790 | Hematuria | The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine). |
| HP:0100755 | Abnormality of salivation | |
| HP:0000093 | Proteinuria | Increased levels of protein in the urine. |
| HP:0033726 | Lupus nephritis | Lupus nephritis is a type of glomerulonephritis that constitutes one of the most severe organ manifestations of systemic lupus erythematosus. Lupus nephritis is subclassified in six distinct classes, that represent different manifestations and severities of renal involvement and guide the therapeutic management. |
| HP:0001596 | Alopecia | A noncongenital process of hair loss, which may progress to partial or complete baldness. |
| HP:0005421 | Decreased circulating complement C3 concentration | Concentration of the complement component C3 in the blood circulation below the lower limit of normal. |
| HP:0007417 | Discoid lupus rash | Cutaneous lesion that develops as a dry, scaly, red patch that evolves to an indurated and hyperpigmented plaque with adherent scale. Scarring may result in central white patches (loss of pigmentation) and skin atrophy. |
| HP:0000716 | Depression | Frequently experiencing feelings of being down, miserable, and/or hopeless; struggling to recover from these moods; having a pessimistic outlook on the future; feeling a pervasive sense of shame; having a low self-worth; experiencing thoughts of suicide and engaging in suicidal behavior. |
| HP:0100825 | Cheilitis | Inflammation of the lip. |
| HP:0000488 | Retinopathy | Any noninflammatory disease of the retina. This nonspecific term is retained here because of its wide use in the literature, but if possible new annotations should indicate the precise type of retinal abnormality. |
| HP:0001369 | Arthritis | Inflammation of a joint. |
| HP:0001882 | Leukopenia | An abnormal decreased number of leukocytes in the blood. |
| HP:0000992 | Cutaneous photosensitivity | An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin. |
| HP:0002716 | Lymphadenopathy | Enlargment (swelling) of a lymph node. |
| HP:0000822 | Hypertension | The presence of chronic increased pressure in the systemic arterial system. |
| HP:0045042 | Decreased circulating complement C4 concentration | Concentration of the complement component C4 in the blood circulation below the lower limit of normal. |
pLI : 0
LOEUF : 0.87
sHet : 0.078
pHaplo : 0.48
pTriplo : 0.34
Localisation : 25,123,052 - 25,189,552
Localisation : 25,123,052 - 25,189,552
Base de donnée :
DecipherGenomics OMIM:610286 GTEx Portal Human Protein Atlas Ensembl
pLI : 0
LOEUF : 1.05
pHaplo : 0.24
pTriplo : 0.5
Localisation : 24,857,162 - 24,922,949
Localisation : 24,857,162 - 24,922,949
Base de donnée :
DecipherGenomics OMIM:610238 GTEx Portal Human Protein Atlas Ensembl
pLI : 0.37
LOEUF : 0.7
sHet : 0.031
pHaplo : 0.49
pTriplo : 0.66
Localisation : 28,270,567 - 28,335,170
Localisation : 28,270,567 - 28,335,170
Base de donnée :
DecipherGenomics OMIM:620212 GTEx Portal Human Protein Atlas Ensembl
pLI : 0.08
LOEUF : 0.72
sHet : 0.022
pHaplo : 0.1
pTriplo : 0.64
Localisation : 30,844,947 - 30,905,623
Localisation : 30,844,947 - 30,905,623
Base de donnée :
DecipherGenomics OMIM:605847 GTEx Portal Human Protein Atlas Ensembl
pLI : 0
LOEUF : 0.83
sHet : 0.019
pHaplo : 0.37
pTriplo : 0.21
Localisation : 27,324,989 - 27,376,099
Localisation : 27,324,989 - 27,376,099
Base de donnée :
DecipherGenomics PanelApp OMIM:147781 GTEx Portal Human Protein Atlas Ensembl
Human Phenotype Ontology Montrer/Cacher
| HP:0000964 | Eczema | Eczema is a form of dermatitis. The term eczema is broadly applied to a range of persistent skin conditions and can be related to a number of underlying conditions. Manifestations of eczema can include dryness and recurring skin rashes with redness, skin edema, itching and dryness, crusting, flaking, blistering, cracking, oozing, or bleeding. |
|---|---|---|
| HP:0000006 | Autosomal dominant inheritance | A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. |
| HP:0003193 | Allergic rhinitis | It is characterized by one or more symptoms including sneezing, itching, nasal congestion, and rhinorrhea. |
| HP:0003212 | Increased circulating IgE level | An abnormally increased overall level of immunoglobulin E in blood. |
| HP:0002099 | Asthma | Asthma is characterized by increased responsiveness of the tracheobronchial tree to multiple stimuli, leading to narrowing of the air passages with resultant dyspnea, cough, and wheezing. |
pLI : 0
LOEUF : 0.41
sHet : 0.027
pHaplo : 0.23
pTriplo : 0.24
Localisation : 30,483,979 - 30,534,888
Localisation : 30,483,979 - 30,534,888
Base de donnée :
DecipherGenomics PanelApp OMIM:153370 GTEx Portal Human Protein Atlas Ensembl
pLI : 1
LOEUF : 0.2
sHet : 0.217
pHaplo : 0.69
pTriplo : 0.33
Localisation : 27,413,495 - 27,463,363
Localisation : 27,413,495 - 27,463,363
Maladie : Combined immunodeficiency due to IL21R deficiency
Source : Orphanet
Base de donnée :
DecipherGenomics PanelApp OMIM:605383 Orphanet:357329 HGNC:6006 PMID:23440042 GTEx Portal Human Protein Atlas Ensembl
Human Phenotype Ontology Montrer/Cacher
| HP:0001394 | Cirrhosis | A chronic disorder of the liver in which liver tissue becomes scarred and is partially replaced by regenerative nodules and fibrotic tissue resulting in loss of liver function. |
|---|---|---|
| HP:0030151 | Cholangitis | Inflammation of the biliary ductal system, affecting the intrahepatic or extrahepatic portions, or both. |
| HP:0200124 | Chronic hepatitis due to cryptosporidium infection | Chronic hepatitis associated with infection by cryptosporidia, as demonstrated (for example) by immunohistochemistry of liver tissue. |
| HP:0003139 | Panhypogammaglobulinemia | A reduction in the circulating levels of all the major classes of immunoglobulin. is characterized by profound decreases in all classes of immunoglobulin with an absence of circulating B lymphocytes. |
| HP:0002205 | Recurrent respiratory infections | An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections. |
| HP:0011463 | Childhood onset | Onset of disease at the age of between 1 and 5 years. |
| HP:0001399 | Hepatic failure | |
| HP:0000403 | Recurrent otitis media | Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media. |
| HP:0002719 | Recurrent infections | Increased susceptibility to infections. |
| HP:0011108 | Recurrent sinusitis | A recurrent form of sinusitis. |
| HP:0020102 | Pneumocystis jirovecii pneumonia | An opportunistic disease caused by invasion of unicellular fungus Pneumocystis jirovecii. Transmission of P. jirovecii cysts takes place through the airborne route, and usually, its presence in lungs is asymptomatic. However, people with impaired immunity, especially those with CD4+ T cell count below 200/microliter, are still at risk of the development of Pneumocystis pneumonia due to P. jirovecii invasion. Symptoms induced by this disease are not specific: progressive dyspnoea, non-productive cough, low-grade fever, arterial partial pressure of oxygen below 65 mmHg, and chest radiographs demonstrating bilateral, interstitial shadowing. |
| HP:0000007 | Autosomal recessive inheritance | A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). |
| HP:0002110 | Bronchiectasis | Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways. |
| HP:0001508 | Failure to thrive | Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. |
| HP:0006532 | Recurrent pneumonia | An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia. |
| HP:0002028 | Chronic diarrhea | The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks. |
| HP:0002721 | Immunodeficiency | Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance. |
| HP:0004798 | Recurrent infection of the gastrointestinal tract | Recurrent infection of the gastrointestinal tract. |
pLI : 0
LOEUF : 1.93
pHaplo : 0.11
pTriplo : 0.28
Localisation : 28,699,879 - 28,747,048
Localisation : 28,699,879 - 28,747,048
Base de donnée :
DecipherGenomics OMIM:603916 GTEx Portal Human Protein Atlas Ensembl
pLI : 0
LOEUF : 1.18
sHet : 0.014
pHaplo : 0.23
pTriplo : 0.26
Localisation : 27,236,315 - 27,280,093
Localisation : 27,236,315 - 27,280,093
Base de donnée :
DecipherGenomics OMIM:617263 GTEx Portal Human Protein Atlas Ensembl
pLI : 0.02
LOEUF : 1.55
sHet : 0.011
pHaplo : 0.12
pTriplo : 0.25
Localisation : 31,885,128 - 31,928,678
Localisation : 31,885,128 - 31,928,678
Base de donnée :
DecipherGenomics OMIM:604752 GTEx Portal Human Protein Atlas Ensembl
pLI : 1
LOEUF : 0.1
sHet : 0.323
pHaplo : 0.99
pTriplo : 1
Localisation : 30,709,530 - 30,752,730
Localisation : 30,709,530 - 30,752,730
Maladie : Floating-Harbor syndrome
Source : Orphanet
Base de donnée :
DecipherGenomics PanelApp OMIM:611421 Orphanet:2044 HGNC:16974 PMID:22965468 GTEx Portal Human Protein Atlas Ensembl
Human Phenotype Ontology Montrer/Cacher
| HP:0040288 | Nasogastric tube feeding | The condition of inability to eat normally treated by placement of a thin tube through the nose into the stomach that is then used to carry food. |
|---|---|---|
| HP:0000914 | Shield chest | A broad chest. |
| HP:0000276 | Long face | Facial height (length) is more than 2 standard deviations above the mean (objective); or, an apparent increase in the height (length) of the face (subjective). |
| HP:0010957 | Congenital posterior urethral valve | A developmental defect resulting in an obstructing membrane in the posterior male urethra. |
| HP:0005487 | Prominent metopic ridge | Vertical bony ridge positioned in the midline of the forehead. |
| HP:0031936 | Delayed ability to walk | A failure to achieve the ability to walk at an appropriate developmental stage. Most children learn to walk in a series of stages, and learn to walk short distances independently between 12 and 15 months. |
| HP:0000455 | Broad nasal tip | Increase in width of the nasal tip. |
| HP:0000023 | Inguinal hernia | Protrusion of the contents of the abdominal cavity through the inguinal canal. |
| HP:0000028 | Cryptorchidism | Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum. |
| HP:0000739 | Anxiety | Intense feelings of nervousness, tension, or panic often arise in response to interpersonal stresses. There is worry about the negative effects of past unpleasant experiences and future negative possibilities. Individuals may feel fearful, apprehensive, or threatened by uncertainty, and they may also have fears of falling apart or losing control. |
| HP:0001620 | High pitched voice | An abnormal increase in the pitch (frequency) of the voice. |
| HP:0006335 | Persistence of primary teeth | Persistence of the primary teeth beyond the age by which they normally are shed and replaced by the permanent teeth. |
| HP:0000256 | Macrocephaly | Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium. |
| HP:0000252 | Microcephaly | Head circumference below 2 standard deviations below the mean for age and gender. |
| HP:0011220 | Prominent forehead | Forward prominence of the entire forehead, due to protrusion of the frontal bone. |
| HP:0000286 | Epicanthus | A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus. |
| HP:0000593 | Abnormal anterior chamber morphology | Abnormality of the anterior chamber, which is the space in the eye that is behind the cornea and in front of the iris. |
| HP:0000629 | Periorbital fullness | Increase in periorbital soft tissue. |
| HP:0000006 | Autosomal dominant inheritance | A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. |
| HP:0010047 | Short 5th metacarpal | Short fifth metacarpal bone. |
| HP:0001047 | Atopic dermatitis | Atopic dermatitis (AD) or atopic eczema is an itchy, inflammatory skin condition with a predilection for the skin flexures. It is characterized by poorly defined erythema with edema, vesicles, and weeping in the acute stage and skin thickening (lichenification) in the chronic stage. |
| HP:0000327 | Hypoplasia of the maxilla | Abnormally small dimension of the Maxilla. Usually creating a malocclusion or malalignment between the upper and lower teeth or resulting in a deficient amount of projection of the base of the nose and lower midface region. |
| HP:0010034 | Short 1st metacarpal | A developmental defect characterized by reduced length of the first metacarpal (long bone) of the hand. |
| HP:0001680 | Coarctation of aorta | Coarctation of the aorta is a narrowing or constriction of a segment of the aorta. |
| HP:0000545 | Myopia | An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry. |
| HP:0012538 | Gluten intolerance | A detrimental reaction to the presence of gluten in food, which may include abdominal pain, fatigue, headaches and paresthesia, or celiac disease. |
| HP:0001537 | Umbilical hernia | Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect. |
| HP:0000448 | Prominent nose | Distance between subnasale and pronasale more than two standard deviations above the mean, or alternatively, an apparently increased anterior protrusion of the nasal tip. |
| HP:0011599 | Mesocardia | Mesocardia is an abnormal location of the heart in which the heart is in a midline position and the longitudinal axis of the heart lies in the mid-sagittal plane. |
| HP:0009778 | Short thumb | Hypoplasia (congenital reduction in size) of the thumb. |
| HP:0000278 | Retrognathia | An abnormality in which the mandible is mislocalised posteriorly. |
| HP:0002608 | Celiac disease | Celiac disease (CD) is an autoimmune condition affecting the small intestine, triggered by the ingestion of gluten, the protein fraction of wheat, barley, and rye. Clinical manifestations of CD are highly variable and include both gastrointestinal and non-gastrointestinal features. The hallmark of CD is an immune-mediated enteropathy. This term is included because the occurence of CD is seen as a feature of a number of other diseases. |
| HP:0000709 | Psychosis | A condition characterized by changes in personality and thought patterns, often accompanied by hallucinations and delusional beliefs, is known as psychosis. |
| HP:0000718 | Aggressive behavior | Behavior or an act aimed at harming a person, animal, or physical property (e.g., acts of physical violence; shouting, swearing, and using harsh language; slashing someone's tires). |
| HP:0000369 | Low-set ears | Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear. |
| HP:0004209 | Clinodactyly of the 5th finger | Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger). |
| HP:0001260 | Dysarthria | Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed. |
| HP:0008554 | Cochlear malformation | The presence of a malformed cochlea. |
| HP:0011300 | Broad fingertip | Increased width of the distal segment of a finger. |
| HP:0001611 | Hypernasal speech | A type of speech characterized by the presence of an abnormally increased nasal airflow during speech associated with structural abnormality of the nasal passages. |
| HP:0002750 | Delayed skeletal maturation | A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body. |
| HP:0100710 | Impulsivity | Acting on the spur of the moment in response to immediate stimuli; acting on a momentary basis without a plan or consideration of outcomes; having difficulty establishing or following plans; experiencing a sense of urgency and engaging in self-harming behavior when under emotional distress. |
| HP:0000527 | Long eyelashes | Mid upper eyelash length >10 mm or increased length of the eyelashes (subjective). |
| HP:0030084 | Clinodactyly | An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe). |
| HP:0000303 | Mandibular prognathia | Abnormal prominence of the chin related to increased length of the mandible. |
| HP:0003879 | Humeral pseudarthrosis | |
| HP:0001631 | Atrial septal defect | Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum. |
| HP:0005743 | Avascular necrosis of the capital femoral epiphysis | Avascular necrosis of the proximal epiphysis of the femur occurring in growing children and caused by an interruption of the blood supply to the head of the femur close to the hip joint. The necrosis is characteristically associated with flattening of the femoral head, for which reason the term coxa plana has been used to refer to this feature in the medical literature. |
| HP:0000121 | Nephrocalcinosis | Nephrocalcinosis is the deposition of calcium salts in renal parenchyma. |
| HP:0010252 | Ivory epiphyses of the distal phalanges of the hand | Distal epiphyses of the hand are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs. |
| HP:0000540 | Hypermetropia | An abnormality of refraction characterized by the ability to see objects in the distance clearly, while objects nearby appear blurry. |
| HP:0000490 | Deeply set eye | An eye that is more deeply recessed into the plane of the face than is typical. |
| HP:0000711 | Restlessness | A state of unease is characterized by diffuse motor activity or motion, which is subject to limited control, nonproductive, or disorganized behavior. |
| HP:0007018 | Attention deficit hyperactivity disorder | Attention deficit hyperactivity disorder (ADHD) manifests at age 2-3 years or by first grade at the latest. The main symptoms are distractibility, impulsivity, hyperactivity, and often trouble organizing tasks and projects, difficulty going to sleep, and social problems from being aggressive, loud, or impatient. |
| HP:0001518 | Small for gestational age | Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age. |
| HP:0002342 | Intellectual disability, moderate | Moderate mental retardation is defined as an intelligence quotient (IQ) in the range of 35-49. |
| HP:0003189 | Long nose | Distance from nasion to subnasale more than two standard deviations above the mean, or alternatively, an apparently increased length from the nasal root to the nasal base. |
| HP:0010230 | Cone-shaped epiphyses of the phalanges of the hand | A cone-shaped appearance of the epiphyses of the fingers of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx. |
| HP:0002474 | Expressive language delay | A delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts. |
| HP:0001382 | Joint hypermobility | The ability of a joint to move beyond its normal range of motion. |
| HP:0000677 | Oligodontia | The absence of six or more teeth from the normal series by a failure to develop. |
| HP:0001344 | Absent speech | Complete lack of development of speech and language abilities. |
| HP:0002019 | Constipation | Infrequent or difficult evacuation of feces. |
| HP:0002020 | Gastroesophageal reflux | A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter. |
| HP:0003083 | Dislocated radial head | A dislocation of the head of the radius from its socket in the elbow joint. |
| HP:0005301 | Persistent left superior vena cava | A rare congenital vascular anomaly that results when the left superior cardinal vein caudal to the innominate vein fails to regress. |
| HP:0001250 | Seizure | A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. |
| HP:0000722 | Compulsive behaviors | Behavior that consists of repetitive acts, characterized by the feeling that one "has to" perform them, while being aware that these acts are not in line with one's overall goal. |
| HP:0000708 | Atypical behavior | Atypical behavior is an abnormality in a person's actions, which can be controlled or modulated by the will of the individual. While abnormal behaviors can be difficult to control, they are distinct from other abnormal actions that cannot be affected by the individual's will. |
| HP:0000878 | 11 pairs of ribs | Presence of only 11 pairs of ribs. |
| HP:0000736 | Short attention span | Reduced attention span characterized by distractibility and impulsivity. |
| HP:0009765 | Low hanging columella | Columella extending inferior to the level of the nasal base, when viewed from the side. |
| HP:0000232 | Everted lower lip vermilion | An abnormal configuration of the lower lip such that it is turned outward i.e., everted, with the Inner aspect of the lower lip vermilion (normally opposing the teeth) being visible in a frontal view. |
| HP:0002136 | Broad-based gait | An abnormal gait pattern in which persons stand and walk with their feet spaced widely apart. This is often a component of cerebellar ataxia. |
| HP:0000729 | Autistic behavior | Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior. |
| HP:0000007 | Autosomal recessive inheritance | A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). |
| HP:0001156 | Brachydactyly | Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here. |
| HP:0000430 | Underdeveloped nasal alae | Thinned, deficient, or excessively arched ala nasi. |
| HP:0001385 | Hip dysplasia | The presence of developmental dysplasia of the hip. |
| HP:0000154 | Wide mouth | Distance between the oral commissures more than 2 SD above the mean. Alternatively, an apparently increased width of the oral aperture (subjective). |
| HP:0000325 | Triangular face | Facial contour, as viewed from the front, triangular in shape, with breadth at the temples and tapering to a narrow chin. |
| HP:0004322 | Short stature | A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). |
| HP:0000670 | Carious teeth | Caries is a multifactorial bacterial infection affecting the structure of the tooth. This term has been used to describe the presence of more than expected dental caries. |
| HP:0000322 | Short philtrum | Distance between nasal base and midline upper lip vermilion border more than 2 SD below the mean. Alternatively, an apparently decreased distance between nasal base and midline upper lip vermilion border. |
| HP:0000446 | Narrow nasal bridge | Decreased width of the bony bridge of the nose. |
| HP:0003037 | Enlarged joints | Increase in size of one or more joints. |
| HP:0000826 | Precocious puberty | The onset of secondary sexual characteristics before a normal age. Although it is difficult to define normal age ranges because of the marked variation with which puberty begins in normal children, precocious puberty can be defined as the onset of puberty before the age of 8 years in girls or 9 years in boys. |
| HP:0010946 | Dilatation of the renal pelvis | The presence of dilatation of the renal pelvis. |
| HP:0000414 | Bulbous nose | Increased volume and globular shape of the anteroinferior aspect of the nose. |
| HP:0001249 | Intellectual disability | Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70. |
| HP:0000405 | Conductive hearing impairment | An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound. |
| HP:0025160 | Abnormal temper tantrums | Temper tantrums are brief episodes of extreme, unpleasant, and sometimes aggressive behaviors in response to frustration or anger, which are a normal part of development in toddlers. Temper tantrums that occur more frequently in a given time and/or are more severe in symptomatology and/or longer in duration and/or inappropriate for the given age compared to a temper tantrum that naturally occurs as a part of the developmental process are classified as abnormal temper tantrums. |
| HP:0002714 | Downturned corners of mouth | A morphological abnormality of the mouth in which the angle of the mouth is downturned. The oral commissures are positioned inferior to the midline labial fissure. |
| HP:0000411 | Protruding ear | Angle formed by the plane of the ear and the mastoid bone greater than the 97th centile for age (objective); or, outer edge of the helix more than 2 cm from the mastoid at the point of maximum distance (objective). |
| HP:0001252 | Hypotonia | Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist. |
| HP:0004220 | Short middle phalanx of the 5th finger | Hypoplastic/small middle phalanx of the fifth finger. |
| HP:0000894 | Short clavicles | Reduced length of the clavicles. |
| HP:0004554 | Generalized hypertrichosis | Generalized excessive, abnormal hairiness. |
| HP:0003593 | Infantile onset | Onset of signs or symptoms of disease between 28 days to one year of life. |
| HP:0000219 | Thin upper lip vermilion | Height of the vermilion of the upper lip in the midline more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the upper lip in the frontal view (subjective). |
| HP:0045025 | Narrow palpebral fissure | Reduction in the vertical distance between the upper and lower eyelids. |
| HP:0009577 | Short middle phalanx of the 2nd finger | Hypoplasia (congenital reduction in size) of the middle phalanx of the second finger, also known as the index finger. |
| HP:0012871 | Varicocele | A varicocele is a widening of the veins along the spermatic cord, leading to enlarged, twisted veins in the scrotum, and manifested clinically by a painless testicle lump, scrotal swelling, or bulge in the scrotum. |
| HP:0002162 | Low posterior hairline | Hair on the neck extends more inferiorly than usual. |
| HP:0000807 | Glandular hypospadias | |
| HP:0000403 | Recurrent otitis media | Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media. |
| HP:0000358 | Posteriorly rotated ears | A type of abnormal location of the ears in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front). |
| HP:0003774 | Stage 5 chronic kidney disease | A degree of kidney failure severe enough to require dialysis or kidney transplantation for survival characterized by a severe reduction in glomerular filtration rate (less than 15 ml/min/1.73 m2) and other manifestations including increased serum creatinine. |
| HP:0000691 | Microdontia | Decreased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD below mean. Alternatively, an apparently decreased maximum width of tooth. |
| HP:0000750 | Delayed speech and language development | A degree of language development that is significantly below the norm for a child of a specified age. |
| HP:0000107 | Renal cyst | A fluid filled sac in the kidney. |
| HP:0000426 | Prominent nasal bridge | Anterior positioning of the nasal root in comparison to the usual positioning for age. |
| HP:0000431 | Wide nasal bridge | Increased breadth of the nasal bridge (and with it, the nasal root). |
| HP:0001510 | Growth delay | A deficiency or slowing down of growth pre- and postnatally. |
| HP:0000104 | Renal agenesis | Agenesis, that is, failure of the kidney to develop during embryogenesis and development. |
| HP:0030424 | Epididymal cyst | A smooth, extratesticular, spherical cyst in the head of the epididymis. |
| HP:0001007 | Hirsutism | Abnormally increased hair growth referring to a male pattern of body hair (androgenic hair). |
| HP:0011098 | Speech apraxia | A type of apraxia that is characterized by difficulty or inability to execute speech movements because of problems with coordination and motor problems, leading to incorrect articulation. An increase of errors with increasing word and phrase length may occur. |
| HP:0011304 | Broad thumb | Increased thumb width without increased dorso-ventral dimension. |
| HP:0000470 | Short neck | Diminished length of the neck. |
| HP:0010049 | Short metacarpal | Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal. |
| HP:0000047 | Hypospadias | Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum. |
| HP:0000113 | Polycystic kidney dysplasia | The presence of multiple cysts in both kidneys. |
| HP:0000126 | Hydronephrosis | Severe distention of the kidney with dilation of the renal pelvis and calices. |
| HP:0001388 | Joint laxity | Lack of stability of a joint. |
| HP:0000486 | Strabismus | A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error. |
| HP:0001636 | Tetralogy of Fallot | A congenital cardiac malformation comprising pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy. The diagnosis of TOF is made if at least three of the four above mentioned features are present. |
| HP:0000343 | Long philtrum | Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border. |
| HP:0002751 | Kyphoscoliosis | An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane. |
| HP:0001256 | Intellectual disability, mild | Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69. |
SFARI (Base de donnée sur l'autisme) :
Score du gène : 1
N'est pas syndromique
Pas de score EAGLE
Rapports : 8
pLI : 0
LOEUF : 0.82
Localisation : 28,565,236 - 28,603,111
Localisation : 28,565,236 - 28,603,111
Base de donnée :
DecipherGenomics OMIM:613374 GTEx Portal Human Protein Atlas Ensembl
pLI : 0
LOEUF : 1.1
sHet : 0.13
pHaplo : 0.17
pTriplo : 0.16
Localisation : 29,674,600 - 29,710,020
Localisation : 29,674,600 - 29,710,020
Base de donnée :
DecipherGenomics OMIM:606248 GTEx Portal Human Protein Atlas Ensembl
pLI : 0
LOEUF : 0.87
pHaplo : 0.11
pTriplo : 0.26
Localisation : 31,404,656 - 31,437,826
Localisation : 31,404,656 - 31,437,826
Base de donnée :
DecipherGenomics OMIM:602453 GTEx Portal Human Protein Atlas Ensembl
pLI : 0
LOEUF : 0.57
sHet : 0.015
pHaplo : 0.3
pTriplo : 0.53
Localisation : 28,915,742 - 28,947,847
Localisation : 28,915,742 - 28,947,847
Base de donnée :
DecipherGenomics OMIM:611869 GTEx Portal Human Protein Atlas Ensembl
pLI : 0.66
LOEUF : 0.52
Localisation : 30,035,748 - 30,064,299
Localisation : 30,035,748 - 30,064,299
Base de donnée :
DecipherGenomics OMIM:615175 GTEx Portal Human Protein Atlas Ensembl
Human Phenotype Ontology Montrer/Cacher
| HP:0007722 | Retinal pigment epithelial atrophy | Atrophy (loss or wasting) of the retinal pigment epithelium observed on fundoscopy or fundus imaging. |
|---|---|---|
| HP:0000551 | Color vision defect | An anomaly in the ability to discriminate between or recognize colors. |
| HP:0007703 | Abnormality of retinal pigmentation | |
| HP:0011504 | Bull's eye maculopathy | Progressive maculopathy characterized by concentric regions of hyper- and hypo-pigmentation. |
| HP:0030631 | Hyperautofluorescent macular lesion | Increased amount of autofluorescence in the macula as ascertained by fundus autofluorescence imaging. |
| HP:0007663 | Reduced visual acuity | |
| HP:0000505 | Visual impairment | Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery. |
| HP:0000662 | Nyctalopia | Inability to see well at night or in poor light. |
| HP:0007843 | Attenuation of retinal blood vessels | |
| HP:0030844 | Undetectable pattern electroretinogram | Absent response to a pattern electroretinogram (PERG). |
| HP:0003621 | Juvenile onset | Onset of signs or symptoms of disease between the age of 5 and 15 years. |
| HP:0030825 | Absent foveal reflex | Lack of the foveal reflex, which normally occurs as a result of the reflection of light from the ophthalmoscope in the foveal pit upon examination. The foveal reflex is a bright pinpoint of light that is observed to move sideways or up and down in response to movement of the opthalmoscope. |
| HP:0025159 | Hypoautofluorescent retinal lesion | Decreased amount of autofluorescence in the retina as ascertained by fundus autofluorescence imaging. |
| HP:0000007 | Autosomal recessive inheritance | A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). |
| HP:0000613 | Photophobia | Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light. |
| HP:0030629 | Perifoveal ring of hyperautofluorescence | |
| HP:0011462 | Young adult onset | Onset of disease at the age of between 16 and 40 years. |
pLI : 0.12
LOEUF : 0.42
sHet : 0.07
pHaplo : 0.22
pTriplo : 0.69
Localisation : 29,882,480 - 29,910,871
Localisation : 29,882,480 - 29,910,871
Base de donnée :
DecipherGenomics PanelApp OMIM:616667 GTEx Portal Human Protein Atlas Ensembl
SFARI (Base de donnée sur l'autisme) :
Score du gène : 2
N'est pas syndromique
Pas de score EAGLE
Rapports : 6
pLI : 0
LOEUF : 0.72
sHet : 0.011
pHaplo : 0.29
pTriplo : 0.12
Localisation : 31,366,455 - 31,394,320
Localisation : 31,366,455 - 31,394,320
Base de donnée :
DecipherGenomics OMIM:151510 GTEx Portal Human Protein Atlas Ensembl
pLI : 0
LOEUF : 0.73
sHet : 0.006
pHaplo : 0.16
pTriplo : 0.67
Localisation : 29,831,715 - 29,859,360
Localisation : 29,831,715 - 29,859,360
Base de donnée :
DecipherGenomics OMIM:605088 GTEx Portal Human Protein Atlas Ensembl
pLI : 1
LOEUF : 0.23
sHet : 0.101
pHaplo : 0.5
pTriplo : 0.96
Localisation : 28,857,921 - 28,885,533
Localisation : 28,857,921 - 28,885,533
Maladie : Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency
Source : Orphanet
Base de donnée :
DecipherGenomics PanelApp OMIM:608937 Orphanet:329249 HGNC:30417 PMID:23160192 GTEx Portal Human Protein Atlas Ensembl
Human Phenotype Ontology Montrer/Cacher
| HP:0011968 | Feeding difficulties | Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it. |
|---|---|---|
| HP:0002020 | Gastroesophageal reflux | A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter. |
| HP:0000717 | Autism | Autism is a neurodevelopmental disorder characterized by impaired social interaction and communication, and by restricted and repetitive behavior. Autism begins in childhood. It is marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest. Manifestations of the disorder vary greatly depending on the developmental level and chronological age of the individual (DSM-IV). |
| HP:0000294 | Low anterior hairline | Distance between the hairline (trichion) and the glabella (the most prominent point on the frontal bone above the root of the nose), in the midline, more than two SD below the mean. Alternatively, an apparently decreased distance between the hairline and the glabella. |
| HP:0001250 | Seizure | A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. |
| HP:0000733 | Abnormal repetitive mannerisms | Use of the same abnormal action in response to certain triggers or at random. They may be used as a way to regulate one's internal state but must otherwise have no apparent functional purpose. |
| HP:0000175 | Cleft palate | Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate). |
| HP:0003077 | Hyperlipidemia | An elevated lipid concentration in the blood. |
| HP:0000735 | Impaired social interactions | Difficulty interacting with others through emotional, physical, or verbal communication. |
| HP:0001646 | Abnormal aortic valve morphology | Any abnormality of the aortic valve. |
| HP:0002910 | Elevated hepatic transaminase | Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage. |
| HP:0001161 | Hand polydactyly | A kind of polydactyly characterized by the presence of a supernumerary finger or fingers. |
| HP:0011800 | Midface retrusion | Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle. |
| HP:0002119 | Ventriculomegaly | An increase in size of the ventricular system of the brain. |
| HP:0000708 | Atypical behavior | Atypical behavior is an abnormality in a person's actions, which can be controlled or modulated by the will of the individual. While abnormal behaviors can be difficult to control, they are distinct from other abnormal actions that cannot be affected by the individual's will. |
| HP:0000556 | Retinal dystrophy | Retinal dystrophy is an abnormality of the retina associated with a hereditary process. Retinal dystrophies are defined by their predominantly monogenic inheritance and they are frequently associated with loss or dysfunction of photoreceptor cells as a primary or secondary event. |
| HP:0000347 | Micrognathia | Developmental hypoplasia of the mandible. |
| HP:0000337 | Broad forehead | Width of the forehead or distance between the frontotemporales is more than two standard deviations above the mean (objective); or apparently increased distance between the two sides of the forehead. |
| HP:0008763 | No social interaction | Lack of intentional participation in interactions with another person. |
| HP:0000076 | Vesicoureteral reflux | Abnormal (retrograde) movement of urine from the bladder into ureters or kidneys related to inadequacy of the valvular mechanism at the ureterovesicular junction or other causes. |
| HP:0000256 | Macrocephaly | Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium. |
| HP:0002691 | Platybasia | A developmental malformation of the occipital bone and upper end of the cervical spine, in which the latter appears to have pushed the floor of the occipital bone upward such that there is an abnormal flattening of the skull base. |
| HP:0000729 | Autistic behavior | Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior. |
| HP:0001266 | Choreoathetosis | Involuntary movements characterized by both athetosis (inability to sustain muscles in a fixed position) and chorea (widespread jerky arrhythmic movements). |
| HP:0001508 | Failure to thrive | Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. |
| HP:0001319 | Neonatal hypotonia | Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period. |
| HP:0007166 | Paroxysmal dyskinesia | Episodic bouts of involuntary movements with dystonic, choreic, ballistic movements, or a combination thereof. There is no loss of consciousness during the attacks. |
| HP:0002808 | Kyphosis | Exaggerated anterior convexity of the thoracic vertebral column. |
| HP:0006863 | Severe expressive language delay | A severe delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts. |
| HP:0004322 | Short stature | A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). |
| HP:0000003 | Multicystic kidney dysplasia | Multicystic dysplasia of the kidney is characterized by multiple cysts of varying size in the kidney and the absence of a normal pelvicaliceal system. The condition is associated with ureteral or ureteropelvic atresia, and the affected kidney is nonfunctional. |
| HP:0002251 | Aganglionic megacolon | An abnormality resulting from a lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) that results in bowel obstruction with enlargement of the colon. |
| HP:0002149 | Hyperuricemia | An abnormally high level of uric acid in the blood. |
| HP:0002650 | Scoliosis | The presence of an abnormal lateral curvature of the spine. |
| HP:0001249 | Intellectual disability | Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70. |
| HP:0000405 | Conductive hearing impairment | An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound. |
| HP:0000902 | Rib fusion | Complete or partial merging of adjacent ribs. |
| HP:0000776 | Congenital diaphragmatic hernia | The presence of a hernia of the diaphragm present at birth. |
| HP:0009088 | Speech articulation difficulties | Impairment in the physical production of speech sounds. |
| HP:0410263 | Brain imaging abnormality | An anomaly of metabolism or structure of the brain identified by imaging. |
| HP:0001513 | Obesity | Accumulation of substantial excess body fat. |
| HP:0002280 | Enlarged cisterna magna | Increase in size of the cisterna magna, one of three principal openings in the subarachnoid space between the arachnoid and pia mater, located between the cerebellum and the dorsal surface of the medulla oblongata. |
| HP:0007099 | Chiari type I malformation | Arnold-Chiari type I malformation refers to a relatively mild degree of herniation of the posteroinferior region of the cerebellum (the cerebellar tonsils) into the cervical canal with little or no displacement of the fourth ventricle. It is characterized by one or both pointed (not rounded) cerebellar tonsils that project 5 mm below the foramen magnum, measured by a line drawn from the basion to the opisthion (McRae Line) |
| HP:0001328 | Specific learning disability | Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence. |
| HP:0000407 | Sensorineural hearing impairment | A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve. |
| HP:0001270 | Motor delay | A type of Developmental delay characterized by a delay in acquiring motor skills. |
| HP:0000510 | Rod-cone dystrophy | An inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. Typical presentation is with nyctalopia (due to rod dysfunction) followed by loss of mid-peripheral field of vision, which gradually extends and leaves many patients with a small central island of vision due to the preservation of macular cones. |
| HP:0000718 | Aggressive behavior | Behavior or an act aimed at harming a person, animal, or physical property (e.g., acts of physical violence; shouting, swearing, and using harsh language; slashing someone's tires). |
| HP:0012450 | Chronic constipation | Constipation for longer than three months with fewer than 3 bowel movements per week, straining, lumpy or hard stools, and a sensation of anorectal obstruction or incomplete defecation. |
| HP:0001166 | Arachnodactyly | Abnormally long and slender fingers ("spider fingers"). |
| HP:0000842 | Hyperinsulinemia | An increased concentration of insulin in the blood. |
| HP:0011351 | Moderate receptive language delay | A moderate delay in the acquisition of the ability to understand the speech of others. |
| HP:0002021 | Pyloric stenosis | Pyloric stenosis, also known as infantile hypertrophic pyloric stenosis, is an uncommon condition in infants characterized by abnormal thickening of the pylorus muscles in the stomach leading to gastric outlet obstruction. Clinically infants are well at birth. Then, at 3 to 6 weeks of age, the infants present with projectile vomiting, potentially leading to dehydration and weight loss. |
| HP:0001631 | Atrial septal defect | Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum. |
| HP:0000750 | Delayed speech and language development | A degree of language development that is significantly below the norm for a child of a specified age. |
| HP:0000077 | Abnormality of the kidney | An abnormality of the kidney. |
| HP:0100702 | Arachnoid cyst | An extra-parenchymal and intra-arachnoidal collection of fluid with a composition similar to that of cerebrospinal fluid. |
| HP:0001263 | Global developmental delay | A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age. |
| HP:0000426 | Prominent nasal bridge | Anterior positioning of the nasal root in comparison to the usual positioning for age. |
| HP:0000160 | Narrow mouth | Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective). |
| HP:0000104 | Renal agenesis | Agenesis, that is, failure of the kidney to develop during embryogenesis and development. |
| HP:0011098 | Speech apraxia | A type of apraxia that is characterized by difficulty or inability to execute speech movements because of problems with coordination and motor problems, leading to incorrect articulation. An increase of errors with increasing word and phrase length may occur. |
| HP:0001651 | Dextrocardia | The heart is located in the right hand sided hemithorax. That is, there is a left-right reversal (or "mirror reflection") of the anatomical location of the heart in which the heart is locate on the right side instead of the left. |
| HP:0000093 | Proteinuria | Increased levels of protein in the urine. |
| HP:0007018 | Attention deficit hyperactivity disorder | Attention deficit hyperactivity disorder (ADHD) manifests at age 2-3 years or by first grade at the latest. The main symptoms are distractibility, impulsivity, hyperactivity, and often trouble organizing tasks and projects, difficulty going to sleep, and social problems from being aggressive, loud, or impatient. |
| HP:0001999 | Abnormal facial shape | An abnormal morphology (form) of the face or its components. |
| HP:0012622 | Chronic kidney disease | Functional anomaly of the kidney persisting for at least three months. |
| HP:0003074 | Hyperglycemia | An increased concentration of glucose in the blood. |
| HP:0003468 | Abnormal vertebral morphology | An abnormality of one or more of the vertebrae. |
| HP:0000316 | Hypertelorism | Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes). |
| HP:0000300 | Oval face | A face with a rounded and slightly elongated outline. |
| HP:0003396 | Syringomyelia | Dilated, glial-lined cavity in spinal cord. This cavity does not communicate with the central canal, and usually is between the dorsal columns unilaterally or bilaterally along the side of the cord. |
| HP:0002591 | Polyphagia | A neurological anomaly with gross overeating associated with an abnormally strong desire or need to eat. |
| HP:0002076 | Migraine | Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associated symptoms. |
| HP:0001627 | Abnormal heart morphology | Any structural anomaly of the heart. |
| HP:0001363 | Craniosynostosis | Craniosynostosis refers to the premature closure of the cranial sutures. Primary craniosynostosis refers to the closure of one or more sutures due to abnormalities in skull development, and secondary craniosynostosis results from failure of brain growth. |
| HP:0001332 | Dystonia | An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk. |
| HP:0001256 | Intellectual disability, mild | Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69. |
pLI : 1
LOEUF : 0.14
sHet : 0.208
pHaplo : 0.95
pTriplo : 1
Localisation : 30,969,075 - 30,995,985
Localisation : 30,969,075 - 30,995,985
Maladie : intellectual disability
Source : DDG2P
Base de donnée :
DecipherGenomics PanelApp OMIM:611052 GTEx Portal Human Protein Atlas Ensembl
Human Phenotype Ontology Montrer/Cacher
| HP:0003593 | Infantile onset | Onset of signs or symptoms of disease between 28 days to one year of life. |
|---|---|---|
| HP:0011968 | Feeding difficulties | Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it. |
| HP:0001270 | Motor delay | A type of Developmental delay characterized by a delay in acquiring motor skills. |
| HP:0000293 | Full cheeks | Increased prominence or roundness of soft tissues between zygomata and mandible. |
| HP:0001290 | Generalized hypotonia | Generalized muscular hypotonia (abnormally low muscle tone). |
| HP:0010803 | Everted upper lip vermilion | Inner aspect of the upper lip vermilion (normally apposing the teeth) visible in a frontal view, i.e., the presence of an everted upper lip. |
| HP:0100753 | Schizophrenia | A mental disorder characterized by a disintegration of thought processes and emotional responsiveness. It most commonly manifests as auditory hallucinations, paranoid or bizarre delusions, or disorganized speech and thinking. It is accompanied by significant social or occupational dysfunction. The onset of symptoms typically occurs in young adulthood, with a global lifetime prevalence of about 1%. This term is not a helpful parent term to describe abnormal experiences. |
| HP:0000718 | Aggressive behavior | Behavior or an act aimed at harming a person, animal, or physical property (e.g., acts of physical violence; shouting, swearing, and using harsh language; slashing someone's tires). |
| HP:0001250 | Seizure | A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. |
| HP:0000369 | Low-set ears | Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear. |
| HP:0012450 | Chronic constipation | Constipation for longer than three months with fewer than 3 bowel movements per week, straining, lumpy or hard stools, and a sensation of anorectal obstruction or incomplete defecation. |
| HP:0000739 | Anxiety | Intense feelings of nervousness, tension, or panic often arise in response to interpersonal stresses. There is worry about the negative effects of past unpleasant experiences and future negative possibilities. Individuals may feel fearful, apprehensive, or threatened by uncertainty, and they may also have fears of falling apart or losing control. |
| HP:0001562 | Oligohydramnios | Diminished amniotic fluid volume in pregnancy. |
| HP:0000736 | Short attention span | Reduced attention span characterized by distractibility and impulsivity. |
| HP:0000750 | Delayed speech and language development | A degree of language development that is significantly below the norm for a child of a specified age. |
| HP:0000256 | Macrocephaly | Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium. |
| HP:0000729 | Autistic behavior | Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior. |
| HP:0000365 | Hearing impairment | A decreased magnitude of the sensory perception of sound. |
| HP:0000034 | Hydrocele testis | Accumulation of clear fluid in the between the layers of membrane (tunica vaginalis) surrounding the testis. |
| HP:0001263 | Global developmental delay | A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age. |
| HP:0000286 | Epicanthus | A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus. |
| HP:0008551 | Microtia | Underdevelopment of the external ear. |
| HP:0000348 | High forehead | An abnormally increased height of the forehead. |
| HP:0000490 | Deeply set eye | An eye that is more deeply recessed into the plane of the face than is typical. |
| HP:0000687 | Widely spaced teeth | Increased spaces (diastemata) between most of the teeth in the same dental arch. |
| HP:0000154 | Wide mouth | Distance between the oral commissures more than 2 SD above the mean. Alternatively, an apparently increased width of the oral aperture (subjective). |
| HP:0004322 | Short stature | A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). |
| HP:0000494 | Downslanted palpebral fissures | The palpebral fissure inclination is more than two standard deviations below the mean. |
| HP:0000463 | Anteverted nares | Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip). |
| HP:0011463 | Childhood onset | Onset of disease at the age of between 1 and 5 years. |
| HP:0000505 | Visual impairment | Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery. |
| HP:0000006 | Autosomal dominant inheritance | A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. |
| HP:0002069 | Bilateral tonic-clonic seizure | A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase. |
| HP:0000316 | Hypertelorism | Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes). |
| HP:0002188 | Delayed CNS myelination | Delayed myelination in the central nervous system. |
| HP:0001249 | Intellectual disability | Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70. |
| HP:0001655 | Patent foramen ovale | Failure of the foramen ovale to seal postnatally, leaving a potential conduit between the left and right cardiac atria. |
| HP:0001363 | Craniosynostosis | Craniosynostosis refers to the premature closure of the cranial sutures. Primary craniosynostosis refers to the closure of one or more sutures due to abnormalities in skull development, and secondary craniosynostosis results from failure of brain growth. |
| HP:0002719 | Recurrent infections | Increased susceptibility to infections. |
| HP:0001382 | Joint hypermobility | The ability of a joint to move beyond its normal range of motion. |
| HP:0000445 | Wide nose | Interalar distance more than two standard deviations above the mean for age, i.e., an apparently increased width of the nasal base and alae. |
| HP:0001513 | Obesity | Accumulation of substantial excess body fat. |
SFARI (Base de donnée sur l'autisme) :
Score du gène : 1
N'est pas syndromique
Score EAGLE : 4.35
Rapports : 7
pLI : 0
LOEUF : 0.85
sHet : 0.005
pHaplo : 0.55
pTriplo : 0.37
Localisation : 28,889,726 - 28,915,787
Localisation : 28,889,726 - 28,915,787
Maladie : Brody myopathy
Source : Orphanet
Base de donnée :
DecipherGenomics PanelApp OMIM:108730 Orphanet:53347 HGNC:811 PMID:10914677 GTEx Portal Human Protein Atlas Ensembl
Human Phenotype Ontology Montrer/Cacher
| HP:0100284 | EMG: myotonic discharges | High frequency discharges in electromyography (EMG) that vary in amplitude and frequency, waxing and waning continuously with firing frequencies ranging from 150/second down to 20/second and producing a sound that has been referred to as a dive bomber sound. |
|---|---|---|
| HP:0003623 | Neonatal onset | Onset of signs or symptoms of disease within the first 28 days of life. |
| HP:0003710 | Exercise-induced muscle cramps | Sudden and involuntary contractions of one or more muscles brought on by physical exertion. |
| HP:0001270 | Motor delay | A type of Developmental delay characterized by a delay in acquiring motor skills. |
| HP:0002047 | Malignant hyperthermia | Malignant hyperthermia is characterized by a rapid increase in temperature to 39-42 degrees C. Malignant hyperthermia may occur in response to either inhalational anesthetics such as halothane, to muscle relaxants such as succinylcholine, or to exercise. |
| HP:0001371 | Flexion contracture | A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints. |
| HP:0001324 | Muscle weakness | Reduced strength of muscles. |
| HP:0011463 | Childhood onset | Onset of disease at the age of between 1 and 5 years. |
| HP:0003474 | Somatic sensory dysfunction | An abnormality of the primary sensation that is mediated by peripheral nerves (pain, temperature, touch, vibration, joint position). The word hypoesthesia (or hypesthesia) refers to a reduction in cutaneous sensation to a specific type of testing. |
| HP:0031826 | Abnormal reflex | Any anomaly of a reflex, i.e., of an automatic response mediated by the nervous system (a reflex does not need the intervention of conscious thought to occur). |
| HP:0002380 | Fasciculations | Fasciculations are observed as small, local, involuntary muscle contractions (twitching) visible under the skin. Fasciculations result from increased irritability of an axon (which in turn is often a manifestation of disease of a motor neuron). This leads to sporadic discharges of all the muscle fibers controlled by the axon in isolation from other motor units. |
| HP:0003326 | Myalgia | Pain in muscle. |
| HP:0002411 | Myokymia | Myokymia consists of involuntary, fine, continuous, undulating contractions that spread across the affected striated muscle. |
| HP:0009046 | Difficulty running | Reduced ability to run. |
| HP:0008967 | Exercise-induced muscle stiffness | A type of muscle stiffness that occurs following physical exertion. |
| HP:0010548 | Percussion myotonia | A localized myotonic contraction in a muscle in reaction to percussion (tapping with the examiner's finger, a rubber percussion hammer, or a similar object). |
| HP:0003712 | Skeletal muscle hypertrophy | Abnormal increase in muscle size and mass not due to training. |
| HP:0000007 | Autosomal recessive inheritance | A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). |
| HP:0002486 | Myotonia | An involuntary and painless delay in the relaxation of skeletal muscle following contraction or electrical stimulation. |
pLI : 1
LOEUF : 0.1
pHaplo : 0.86
pTriplo : 1
Localisation : 30,934,376 - 30,960,104
Localisation : 30,934,376 - 30,960,104
Base de donnée :
DecipherGenomics OMIM:609085 GTEx Portal Human Protein Atlas Ensembl
pLI : 0
LOEUF : 0.91
sHet : 0.007
pHaplo : 0.18
pTriplo : 0.31
Localisation : 28,485,432 - 28,506,896
Localisation : 28,485,432 - 28,506,896
Maladie : CLN3 disease
Source : Orphanet
Base de donnée :
DecipherGenomics PanelApp OMIM:607042 Orphanet:228346 HGNC:2074 PMID:21990111 GTEx Portal Human Protein Atlas Ensembl
Human Phenotype Ontology Montrer/Cacher
| HP:0000501 | Glaucoma | Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure. |
|---|---|---|
| HP:0001250 | Seizure | A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. |
| HP:0002360 | Sleep abnormality | An abnormal pattern in the quality, quantity, or characteristics of sleep. |
| HP:0007663 | Reduced visual acuity | |
| HP:0000739 | Anxiety | Intense feelings of nervousness, tension, or panic often arise in response to interpersonal stresses. There is worry about the negative effects of past unpleasant experiences and future negative possibilities. Individuals may feel fearful, apprehensive, or threatened by uncertainty, and they may also have fears of falling apart or losing control. |
| HP:0002015 | Dysphagia | Difficulty in swallowing. |
| HP:0002067 | Bradykinesia | Bradykinesia literally means slow movement, and is used clinically to denote a slowness in the execution of movement (in contrast to hypokinesia, which is used to refer to slowness in the initiation of movement). |
| HP:0003621 | Juvenile onset | Onset of signs or symptoms of disease between the age of 5 and 15 years. |
| HP:0003205 | Curvilinear intracellular accumulation of autofluorescent lipopigment storage material | An intracellular accumulation of autofluorescent lipopigment storage material in a curved pattern. |
| HP:0001922 | Vacuolated lymphocytes | The presence of clear, sharply defined vacuoles in the lymphocyte cytoplasm. |
| HP:0010872 | T-wave inversion | An inversion of the T-wave (which is normally positive). |
| HP:0000580 | Pigmentary retinopathy | An abnormality of the retina characterized by pigment deposition. It is typically associated with migration and proliferation of macrophages or retinal pigment epithelial cells into the retina; melanin from these cells causes the pigmentary changes. Pigmentary retinopathy is a common final pathway of many retinal conditions and is often associated with visual loss. |
| HP:0001583 | Rotary nystagmus | A form of nystagmus in which the eyeball makes rotary motions around the axis. |
| HP:0000007 | Autosomal recessive inheritance | A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). |
| HP:0032794 | Myoclonic seizure | A myoclonic seizure is a type of motor seizure characterised by sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus. |
| HP:0002059 | Cerebral atrophy | Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum. |
| HP:0000646 | Amblyopia | Reduced visual acuity that is uncorrectable by lenses in the absence of detectable anatomic defects in the eye or visual pathways. |
| HP:0001317 | Abnormal cerebellum morphology | Any structural abnormality of the cerebellum. |
| HP:0001251 | Ataxia | Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly). |
| HP:0030348 | Increased circulating androgen concentration | An elevation of the blood concentration of an androgen, that is, of a steroid hormone that controls development and maintenance of masculine characteristics. The androgens include testosterone and Dehydroepiandrosterone. |
| HP:0000518 | Cataract | A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule. |
| HP:0001272 | Cerebellar atrophy | Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa with normal size, which displays enlarged fissures (interfolial spaces) in comparison to the foliae secondary to loss of tissue. Cerebellar atrophy implies irreversible loss of tissue and result from an ongoing progressive disease until a final stage is reached or a single injury, e.g. an intoxication or infectious event. |
| HP:0001249 | Intellectual disability | Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70. |
| HP:0000529 | Progressive visual loss | A reduction of previously attained ability to see. |
| HP:0001712 | Left ventricular hypertrophy | Enlargement or increased size of the heart left ventricle. |
| HP:0007076 | Extrapyramidal muscular rigidity | Muscular rigidity (continuous contraction of muscles with constant resistance to passive movement). |
| HP:0002071 | Abnormality of extrapyramidal motor function | A neurological condition related to lesions of the basal ganglia leading to typical abnormalities including akinesia (inability to initiate changes in activity and perform volitional movements rapidly and easily), muscular rigidity (continuous contraction of muscles with constant resistance to passive movement), chorea (widespread arrhythmic movements of a forcible, rapid, jerky, and restless nature), athetosis (inability to sustain the muscles of the fingers, toes, or other group of muscles in a fixed position), and akathisia (inability to remain motionless). |
| HP:0000726 | Dementia | A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior. |
| HP:0000608 | Macular degeneration | A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells of the macula lutea. |
| HP:0002354 | Memory impairment | An impairment of memory as manifested by a reduced ability to remember things such as dates and names, and increased forgetfulness. |
| HP:0000510 | Rod-cone dystrophy | An inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. Typical presentation is with nyctalopia (due to rod dysfunction) followed by loss of mid-peripheral field of vision, which gradually extends and leaves many patients with a small central island of vision due to the preservation of macular cones. |
| HP:0007359 | Focal-onset seizure | A focal-onset seizure is a type of seizure originating within networks limited to one hemisphere. They may be discretely localized or more widely distributed, and may originate in subcortical structures. |
| HP:0000709 | Psychosis | A condition characterized by changes in personality and thought patterns, often accompanied by hallucinations and delusional beliefs, is known as psychosis. |
| HP:0002074 | Increased neuronal autofluorescent lipopigment | Lipofuscin, a generic term applied to autofluorescent lipopigment, is a mixture of protein and lipid that accumulates in most aging cells, particularly those involved in high lipid turnover (e.g., the adrenal medulla) or phagocytosis of other cell types (e g., the retinal pigment epithelium or RPE; macrophage). This term pertains if there is an increase in the neuronal accumulation of lipofuscin (also known as autofluorescent lipoprotein) more than expected for the age of the patient. |
| HP:0000718 | Aggressive behavior | Behavior or an act aimed at harming a person, animal, or physical property (e.g., acts of physical violence; shouting, swearing, and using harsh language; slashing someone's tires). |
| HP:0011504 | Bull's eye maculopathy | Progressive maculopathy characterized by concentric regions of hyper- and hypo-pigmentation. |
| HP:0002367 | Visual hallucination | Visual perception in the absence of a visual stimulus. |
| HP:0001260 | Dysarthria | Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed. |
| HP:0002362 | Shuffling gait | A type of gait (walking) characterized by by dragging one's feet along or without lifting the feet fully from the ground. |
| HP:0007058 | Generalized cerebral atrophy/hypoplasia | Generalized atrophy or hypoplasia of the cerebrum. |
| HP:0005157 | Concentric hypertrophic cardiomyopathy | Hypertrophic cardiomyopathy with an symmetrical and concentric pattern of hypertrophy. |
| HP:0001662 | Bradycardia | A slower than normal heart rate (in adults, slower than 60 beats per minute). |
| HP:0000550 | Undetectable electroretinogram | Lack of any response to stimulation upon electroretinography. |
| HP:0002839 | Urinary bladder sphincter dysfunction | Abnormal function of a sphincter of the urinary bladder. |
| HP:0001300 | Parkinsonism | Characteristic neurologic anomaly resulting from degeneration of dopamine-generating cells in the substantia nigra, a region of the midbrain, characterized clinically by shaking, rigidity, slowness of movement and difficulty with walking and gait. |
| HP:0003463 | Increased extraneuronal autofluorescent lipopigment | Lipofuscin, a generic term applied to autofluorescent lipopigment, is a mixture of protein and lipid that accumulates in most aging cells, particularly those involved in high lipid turnover (e.g., the adrenal medulla) or phagocytosis of other cell types (e g., the retinal pigment epithelium or RPE; macrophage). This term pertains if there is an increase in the extraneuronal accumulation of lipofuscin (also known as autofluorescent lipoprotein) more than expected for the age of the patient. |
| HP:0001007 | Hirsutism | Abnormally increased hair growth referring to a male pattern of body hair (androgenic hair). |
| HP:0002361 | Psychomotor deterioration | Loss of previously present mental and motor abilities. |
| HP:0000648 | Optic atrophy | Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy. |
| HP:0001336 | Myoclonus | Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements. |
| HP:0002069 | Bilateral tonic-clonic seizure | A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase. |
| HP:0000716 | Depression | Frequently experiencing feelings of being down, miserable, and/or hopeless; struggling to recover from these moods; having a pessimistic outlook on the future; feeling a pervasive sense of shame; having a low self-worth; experiencing thoughts of suicide and engaging in suicidal behavior. |
| HP:0001268 | Mental deterioration | Loss of previously present mental abilities, generally in adults. |
| HP:0000546 | Retinal degeneration | A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells. |
| HP:0002505 | Loss of ambulation | Inability to walk in a person who previous had the ability to walk. |
| HP:0000618 | Blindness | Blindness is the condition of lacking visual perception defined as visual perception below 3/60 and/or a visual field of no greater than 10 degrees in radius around central fixation. |
| HP:0001061 | Acne | A skin condition in which there is an increase in sebum secretion by the pilosebaceous apparatus associated with open comedones (blackheads), closed comedones (whiteheads), and pustular nodules (papules, pustules, and cysts). |
| HP:0003208 | Fingerprint intracellular accumulation of autofluorescent lipopigment storage material | An intracellular accumulation of autofluorescent lipopigment storage material in a trabecular or fingerprint-like pattern. |
pLI : 0.42
LOEUF : 0.5
sHet : 0.056
pHaplo : 0.17
pTriplo : 0.82
Localisation : 30,613,879 - 30,635,333
Localisation : 30,613,879 - 30,635,333
Base de donnée :
DecipherGenomics OMIM:618033 GTEx Portal Human Protein Atlas Ensembl
pLI : 0.99
LOEUF : 0.27
sHet : 0.065
pHaplo : 0.36
pTriplo : 0.91
Localisation : 31,000,577 - 31,021,959
Localisation : 31,000,577 - 31,021,959
Maladie : Generalized epilepsy with febrile seizures-plus
Source : Orphanet
Base de donnée :
DecipherGenomics PanelApp OMIM:601485 Orphanet:36387 HGNC:18539 PMID:25362483 GTEx Portal Human Protein Atlas Ensembl
Human Phenotype Ontology Montrer/Cacher
| HP:0003593 | Infantile onset | Onset of signs or symptoms of disease between 28 days to one year of life. |
|---|---|---|
| HP:0007359 | Focal-onset seizure | A focal-onset seizure is a type of seizure originating within networks limited to one hemisphere. They may be discretely localized or more widely distributed, and may originate in subcortical structures. |
| HP:0002197 | Generalized-onset seizure | A generalized-onset seizure is a type of seizure originating at some point within, and rapidly engaging, bilaterally distributed networks. The networks may include cortical and subcortical structures but not necessarily the entire cortex. |
| HP:0007010 | Poor fine motor coordination | An abnormality of the ability (skills) to perform a precise movement of small muscles with the intent to perform a specific act. Fine motor skills are required to mediate movements of the wrists, hands, fingers, feet, and toes. |
| HP:0007058 | Generalized cerebral atrophy/hypoplasia | Generalized atrophy or hypoplasia of the cerebrum. |
| HP:0002539 | Cortical dysplasia | The presence of developmental dysplasia of the cerebral cortex. |
| HP:0000739 | Anxiety | Intense feelings of nervousness, tension, or panic often arise in response to interpersonal stresses. There is worry about the negative effects of past unpleasant experiences and future negative possibilities. Individuals may feel fearful, apprehensive, or threatened by uncertainty, and they may also have fears of falling apart or losing control. |
| HP:0003066 | Limited knee extension | Reduced ability to extend (straighten) the knee joint. |
| HP:0100543 | Cognitive impairment | Abnormal cognition is characterized by deficits in thinking, reasoning, or remembering. |
| HP:0002067 | Bradykinesia | Bradykinesia literally means slow movement, and is used clinically to denote a slowness in the execution of movement (in contrast to hypokinesia, which is used to refer to slowness in the initiation of movement). |
| HP:0010819 | Atonic seizure | Atonic seizure is a type of motor seizure characterized by a sudden loss or diminution of muscle tone without apparent preceding myoclonic or tonic event lasting about 1 to 2 seconds, involving head, trunk, jaw, or limb musculature. |
| HP:0100694 | Tibial torsion | Twisted position of the tibia (shin bone) associated with pathological rotation of the leg. |
| HP:0000750 | Delayed speech and language development | A degree of language development that is significantly below the norm for a child of a specified age. |
| HP:0003621 | Juvenile onset | Onset of signs or symptoms of disease between the age of 5 and 15 years. |
| HP:0000729 | Autistic behavior | Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior. |
| HP:0008770 | Obsessive-compulsive trait | The presence of one or more obsessive-compulsive personality traits. Obsessions refer to persistent intrusive thoughts, and compulsions to intrusive behaviors, which the affected person experiences as involuntary, senseless, or repugnant. |
| HP:0002384 | Focal impaired awareness seizure | Focal impaired awareness seizure (or focal seizure with impaired or lost awareness) is a type of focal-onset seizure characterized by some degree (which may be partial) of impairment of the person's awareness of themselves or their surroundings at any point during the seizure. |
| HP:0001263 | Global developmental delay | A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age. |
| HP:0002121 | Generalized non-motor (absence) seizure | A generalized non-motor (absence) seizure is a type of a type of dialeptic seizure that is of electrographically generalized onset. It is a generalized seizure characterised by an interruption of activities, a blank stare, and usually the person will be unresponsive when spoken to. Any ictal motor phenomena are minor in comparison to these non-motor features. |
| HP:0001337 | Tremor | An unintentional, oscillating to-and-fro muscle movement about a joint axis. |
| HP:0002133 | Status epilepticus | Status epilepticus is a type of prolonged seizure resulting either from the failure of the mechanisms responsible for seizure termination or from the initiation of mechanisms which lead to abnormally prolonged seizures (after time point t1). It is a condition that can have long-term consequences (after time point t2), including neuronal death, neuronal injury, and alteration of neuronal networks, depending on the type and duration of seizures. |
| HP:0001763 | Pes planus | A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced. |
| HP:0001251 | Ataxia | Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly). |
| HP:0002123 | Generalized myoclonic seizure | A generalized myoclonic seizure is a type of generalized motor seizure characterised by bilateral, sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus. |
| HP:0011463 | Childhood onset | Onset of disease at the age of between 1 and 5 years. |
| HP:0000006 | Autosomal dominant inheritance | A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. |
| HP:0002069 | Bilateral tonic-clonic seizure | A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase. |
| HP:0011151 | Atypical absence status epilepticus | Atypical absence status epilepticus is a type of generalized non-convulsive status epilepticus without coma that is semiologically a prolonged atypical absence seizure. |
| HP:0002376 | Developmental regression | Loss of developmental skills, as manifested by loss of developmental milestones. |
| HP:0010850 | EEG with spike-wave complexes | Complexes of spikes (<70 ms) and sharp waves (70-200 ms), which are sharp transient waves that have a strong association with epilepsy, in cerebral electrical activity recorded along the scalp by electroencephalography (EEG). |
| HP:0004684 | Talipes valgus | Outward turning of the heel, resulting in clubfoot with the person walking on the inner part of the foot. |
| HP:0001252 | Hypotonia | Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist. |
| HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | A febrile seizure is any type of seizure (most often a generalized tonic-clonic seizure) occurring with fever (at least 38 degrees Celsius) but in the absence of central nervous system infection, severe metabolic disturbance or other alternative precipitant in children between the ages of 3 months and 6 years. |
| HP:0032792 | Tonic seizure | A tonic seizure is a type of motor seizure characterised by unilateral or bilateral limb stiffening or elevation, often with neck stiffening. |
| HP:0002311 | Incoordination |
pLI : 0
LOEUF : 0.95
sHet : 0.171
Localisation : 29,916,333 - 29,937,557
Localisation : 29,916,333 - 29,937,557
Base de donnée :
DecipherGenomics PanelApp OMIM:608947 GTEx Portal Human Protein Atlas Ensembl
SFARI (Base de donnée sur l'autisme) :
Score du gène : 2
N'est pas syndromique
Pas de score EAGLE
Rapports : 8
pLI : 1
LOEUF : 0.24
sHet : 0.172
pHaplo : 0.56
pTriplo : 1
Localisation : 29,985,189 - 30,003,582
Localisation : 29,985,189 - 30,003,582
Base de donnée :
DecipherGenomics PanelApp OMIM:613199 GTEx Portal Human Protein Atlas Ensembl
SFARI (Base de donnée sur l'autisme) :
Score du gène : 2
N'est pas syndromique
Pas de score EAGLE
Rapports : 7
pLI : 0
LOEUF : 0.83
sHet : 0.022
pHaplo : 0.62
pTriplo : 0.52
Localisation : 27,214,829 - 27,233,089
Localisation : 27,214,829 - 27,233,089
Base de donnée :
DecipherGenomics OMIM:611917 GTEx Portal Human Protein Atlas Ensembl
pLI : 0
LOEUF : 0.97
Localisation : 30,389,456 - 30,407,312
Localisation : 30,389,456 - 30,407,312
Base de donnée :
DecipherGenomics OMIM:612897 GTEx Portal Human Protein Atlas Ensembl
Human Phenotype Ontology Montrer/Cacher
| HP:0012207 | Reduced sperm motility | An abnormal reduction in the mobility of ejaculated sperm. |
|---|---|---|
| HP:0003251 | Male infertility | |
| HP:0000006 | Autosomal dominant inheritance | A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. |
| HP:0012864 | Abnormal sperm morphology | A structural anomaly of sperm. |
| HP:0000798 | Oligozoospermia | Reduced count of spermatozoa in the semen, defined as a sperm count below 20 million per milliliter semen. |
| HP:0011462 | Young adult onset | Onset of disease at the age of between 16 and 40 years. |
pLI : 0.01
LOEUF : 0.69
sHet : 0.02
pHaplo : 0.16
pTriplo : 0.3
Localisation : 30,016,835 - 30,034,591
Localisation : 30,016,835 - 30,034,591
Base de donnée :
DecipherGenomics OMIM:604567 GTEx Portal Human Protein Atlas Ensembl
pLI : 0
LOEUF : 1.05
sHet : 0.005
pHaplo : 0.43
pTriplo : 0.65
Localisation : 31,225,412 - 31,242,858
Localisation : 31,225,412 - 31,242,858
Base de donnée :
DecipherGenomics OMIM:613288 GTEx Portal Human Protein Atlas Ensembl
pLI : 0.38
LOEUF : 0.44
sHet : 0.019
pHaplo : 0.25
pTriplo : 0.99
Localisation : 31,125,810 - 31,142,714
Localisation : 31,125,810 - 31,142,714
Maladie : Non-specific syndromic intellectual disability
Source : Orphanet
Base de donnée :
DecipherGenomics PanelApp OMIM:609912 Orphanet:528084 HGNC:17933 PMID:31794431 GTEx Portal Human Protein Atlas Ensembl
Human Phenotype Ontology Montrer/Cacher
| HP:0001250 | Seizure | A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. |
|---|---|---|
| HP:0000369 | Low-set ears | Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear. |
| HP:0004209 | Clinodactyly of the 5th finger | Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger). |
| HP:0008872 | Feeding difficulties in infancy | Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention. |
| HP:0002119 | Ventriculomegaly | An increase in size of the ventricular system of the brain. |
| HP:0002079 | Hypoplasia of the corpus callosum | Underdevelopment of the corpus callosum. |
| HP:0001631 | Atrial septal defect | Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum. |
| HP:0000750 | Delayed speech and language development | A degree of language development that is significantly below the norm for a child of a specified age. |
| HP:0000729 | Autistic behavior | Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior. |
| HP:0001263 | Global developmental delay | A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age. |
| HP:0000426 | Prominent nasal bridge | Anterior positioning of the nasal root in comparison to the usual positioning for age. |
| HP:0000286 | Epicanthus | A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus. |
| HP:0000540 | Hypermetropia | An abnormality of refraction characterized by the ability to see objects in the distance clearly, while objects nearby appear blurry. |
| HP:0002194 | Delayed gross motor development | A type of motor delay characterized by a delay in acquiring the ability to control the large muscles of the body for walking, running, sitting, and crawling. |
| HP:0001643 | Patent ductus arteriosus | In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences. |
| HP:0005280 | Depressed nasal bridge | Posterior positioning of the nasal root in relation to the overall facial profile for age. |
| HP:0000601 | Hypotelorism | Interpupillary distance less than 2 SD below the mean (alternatively, the appearance of an decreased interpupillary distance or closely spaced eyes). |
| HP:0007018 | Attention deficit hyperactivity disorder | Attention deficit hyperactivity disorder (ADHD) manifests at age 2-3 years or by first grade at the latest. The main symptoms are distractibility, impulsivity, hyperactivity, and often trouble organizing tasks and projects, difficulty going to sleep, and social problems from being aggressive, loud, or impatient. |
| HP:0001629 | Ventricular septal defect | A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum. |
| HP:0000006 | Autosomal dominant inheritance | A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. |
| HP:0000506 | Telecanthus | Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi. |
| HP:0000582 | Upslanted palpebral fissure | The palpebral fissure inclination is more than two standard deviations above the mean for age (objective); or, the inclination of the palpebral fissure is greater than typical for age. |
| HP:0000565 | Esotropia | A form of strabismus with one or both eyes turned inward ('crossed') to a relatively severe degree, usually defined as 10 diopters or more. |
| HP:0007165 | Periventricular heterotopia | A form of gray matter heterotopia were the mislocalized gray matter is typically located periventricularly, also sometimes called subependymal heterotopia. Periventricular means beside the ventricles. This is by far the most common location for heterotopia. Subependymal heterotopia present in a wide array of variations. There can be a small single node or a large number of nodes, can exist on either or both sides of the brain at any point along the higher ventricle margins, can be small or large, single or multiple, and can form a small node or a large wavy or curved mass. |
| HP:0012471 | Thick vermilion border | Increased width of the skin of vermilion border region of upper lip. |
| HP:0002714 | Downturned corners of mouth | A morphological abnormality of the mouth in which the angle of the mouth is downturned. The oral commissures are positioned inferior to the midline labial fissure. |
| HP:0010862 | Delayed fine motor development | A type of motor delay characterized by a delay in acquiring the ability to control the fingers and hands. |
| HP:0001845 | Overlapping toe | Describes a foot digit resting on the dorsal surface of an adjacent digit when the foot is at rest. Initially clawing may be dynamic and only noticeable on walking. Over time the plantar plate tears, subluxation occurs at the metatarsophalangeal joint (MTPJ), and the deformity becomes permanent. |
pLI : 0
LOEUF : 1.02
sHet : 0.015
pHaplo : 0.17
pTriplo : 0.66
Localisation : 28,962,128 - 28,978,413
Localisation : 28,962,128 - 28,978,413
Base de donnée :
DecipherGenomics OMIM:614525 GTEx Portal Human Protein Atlas Ensembl
pLI : 0
LOEUF : 0.85
sHet : 0.019
pHaplo : 0.15
pTriplo : 0.65
Localisation : 29,802,048 - 29,816,706
Localisation : 29,802,048 - 29,816,706
Maladie : Spondyloepimetaphyseal dysplasia with multiple dislocations
Source : Orphanet
Base de donnée :
DecipherGenomics PanelApp OMIM:603213 Orphanet:93360 HGNC:6391 PMID:22152677 GTEx Portal Human Protein Atlas Ensembl
Human Phenotype Ontology Montrer/Cacher
| HP:0003083 | Dislocated radial head | A dislocation of the head of the radius from its socket in the elbow joint. |
|---|---|---|
| HP:0010582 | Irregular epiphyses | An alteration of the normally smooth contour of the epiphysis leading to an irregular appearance. |
| HP:0006016 | Delayed phalangeal epiphyseal ossification | Delay in the process of formation and maturation of the epiphysis of one or more phalanx. |
| HP:0001250 | Seizure | A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. |
| HP:0008819 | Narrow femoral neck | An abnormally reduced diameter of the femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft). |
| HP:0003025 | Metaphyseal irregularity | Irregularity of the normally smooth surface of the metaphyses. |
| HP:0008457 | Caudal interpedicular narrowing | Narrowing (becoming gradually narrower) of the distance between vertebral pedicles that gets progressively more severe towards to caudal (lower) end of the vertebral column. Note that normally, the interpedicular distances get progressively wider as one proceeds down the spine. |
| HP:0001058 | Poor wound healing | A reduced ability to heal cutaneous wounds. |
| HP:0002987 | Elbow flexion contracture | An elbow contracture that limits the ability of the elbow joint to be extended (straightened), meaning that the elbow is fixed in an flexed (bent) position. |
| HP:0011800 | Midface retrusion | Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle. |
| HP:0002651 | Spondyloepimetaphyseal dysplasia | |
| HP:0031367 | Metaphyseal striations | Longitudinal densities on radiographs located in a metaphysis (the narrow region of a long bone between the epiphysis and the diaphysis). |
| HP:0009815 | Aplasia/hypoplasia of the extremities | Absence (due to failure to form) or underdevelopment of the extremities. |
| HP:0002857 | Genu valgum | The legs angle inward, such that the knees are close together and the ankles far apart. |
| HP:0012296 | Slender distal phalanx of finger | Reduced diameter of the distal phalanx of finger. |
| HP:0002663 | Delayed epiphyseal ossification | |
| HP:0001238 | Slender finger | Fingers that are disproportionately narrow (reduced girth) for the hand/foot size or build of the individual. |
| HP:0002808 | Kyphosis | Exaggerated anterior convexity of the thoracic vertebral column. |
| HP:0001374 | Congenital hip dislocation | |
| HP:0005619 | Thoracolumbar kyphosis | Hyperconvexity of the thoracolumbar spine producing a rounded or humped appearance. |
| HP:0004322 | Short stature | A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). |
| HP:0010674 | Abnormal curvature of the vertebral column | The presence of an abnormal curvature of the vertebral column. |
| HP:0000006 | Autosomal dominant inheritance | A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. |
| HP:0002827 | Hip dislocation | Displacement of the femur from its normal location in the hip joint. |
| HP:0002650 | Scoliosis | The presence of an abnormal lateral curvature of the spine. |
| HP:0006454 | Delayed patellar ossification | Formation of bone in the patella later than normal. |
| HP:0003301 | Irregular vertebral endplates | An irregular surface of the vertebral end plates, which are normally relatively smooth. |
| HP:0003015 | Flared metaphysis | The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones. |
| HP:0001252 | Hypotonia | Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist. |
| HP:0002652 | Skeletal dysplasia | A general term describing features characterized by abnormal development of bones and connective tissues. |
| HP:0005092 | Streaky metaphyseal sclerosis | The presence of streaks (bands) of abnormally increased density of metaphyseal bone. |
| HP:0100168 | Fragmented epiphyses | Fragmented appearance of the epiphyses. |
| HP:0005008 | Large joint dislocations | |
| HP:0003370 | Flat capital femoral epiphysis | An abnormal flattening of the proximal epiphysis of the femur. |
| HP:0006236 | Slender metacarpals | Decreased width of the metacarpal bones (that is, reduced diameter). |
| HP:0001602 | Laryngeal stenosis | Stricture or narrowing of the larynx that may be associated with symptoms of respiratory difficulty depending on the degree of laryngeal narrowing. |
| HP:0001498 | Carpal bone hypoplasia | Underdevelopment of one or more carpal bones. |
| HP:0001290 | Generalized hypotonia | Generalized muscular hypotonia (abnormally low muscle tone). |
| HP:0012297 | Slender proximal phalanx of finger | Reduced diameter of the proximal phalanx of finger. |
| HP:0003048 | Radial head subluxation | Partial dislocation of the head of the radius. |
| HP:0005121 | Posterior scalloping of vertebral bodies | An excessive concavity of the posterior surface of one or more vertebral bodies. |
| HP:0002970 | Genu varum | A positional abnormality marked by outward bowing of the legs in which the knees stay wide apart when a person stands with the feet and ankles together. |
| HP:0003071 | Flattened epiphysis | Abnormal flatness (decreased height) of epiphyses. |
| HP:0012299 | Long distal phalanx of finger | Increased length of the distal phalanx of finger. |
| HP:0003088 | Premature osteoarthritis | |
| HP:0030043 | Hip subluxation | A partial dislocation of the hip joint, whereby the head of the femur is partially displaced from the socket. |
| HP:0004875 | Neonatal inspiratory stridor | |
| HP:0002656 | Epiphyseal dysplasia | |
| HP:0006127 | Long proximal phalanx of finger | Increased length of the proximal phalanx of finger. |
| HP:0009836 | Broad distal phalanx of finger | Abnormally wide (broad) distal phalanx of finger. |
| HP:0010301 | Spinal dysraphism | A heterogeneous group of congenital spinal anomalies that result from defective closure of the neural tube early in fetal life. |
| HP:0002761 | Generalized joint laxity | Joint hypermobility (ability of a joint to move beyond its normal range of motion) affecting many or all joints of the body. |
| HP:0000977 | Soft skin | Subjective impression of increased softness upon palpation of the skin. |
| HP:0001518 | Small for gestational age | Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age. |
| HP:0003090 | Hypoplasia of the capital femoral epiphysis | Underdevelopment of the proximal epiphysis of the femur. |
| HP:0012368 | Flat face | Absence of concavity or convexity of the face when viewed in profile. |
| HP:0008857 | Neonatal short-trunk short stature | A type of disproportionate short stature characterized by a short trunk but a average-sized limbs with congenital onset recognizable at birth. |
| HP:0001388 | Joint laxity | Lack of stability of a joint. |
| HP:0006014 | Abnormally shaped carpal bones | |
| HP:0000486 | Strabismus | A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error. |
| HP:0006536 | Airway obstruction | Obstruction of conducting airways of the lung. |
| HP:0001832 | Abnormal metatarsal morphology | Abnormalities of the metatarsal bones (i.e. of five tubular bones located between the tarsal bones of the hind- and mid-foot and the phalanges of the toes). |
| HP:0010585 | Small epiphyses | Reduction in the size or volume of epiphyses. |
| HP:0008755 | Laryngotracheomalacia | |
| HP:0002751 | Kyphoscoliosis | An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane. |
| HP:0040064 | Abnormality of limbs | |
| HP:0000926 | Platyspondyly | A flattened vertebral body shape with reduced distance between the vertebral endplates. |
| HP:0000272 | Malar flattening | Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation. |
| HP:0012095 | Multiple joint dislocation | Dislocation of many joints. |
pLI : 1
LOEUF : 0.24
sHet : 0.004
pHaplo : 0.53
pTriplo : 0.99
Localisation : 30,773,066 - 30,787,628
Localisation : 30,773,066 - 30,787,628
Base de donnée :
DecipherGenomics OMIM:607700 GTEx Portal Human Protein Atlas Ensembl
pLI : 1
LOEUF : 0.17
sHet : 0.387
pHaplo : 0.96
pTriplo : 0.98
Localisation : 28,834,320 - 28,848,558
Localisation : 28,834,320 - 28,848,558
Base de donnée :
DecipherGenomics PanelApp OMIM:607931 GTEx Portal Human Protein Atlas Ensembl
pLI : 0.13
LOEUF : 0.57
sHet : 0.022
pHaplo : 0.25
pTriplo : 0.78
Localisation : 31,072,164 - 31,085,561
Localisation : 31,072,164 - 31,085,561
Base de donnée :
DecipherGenomics PanelApp OMIM:617103 GTEx Portal Human Protein Atlas Ensembl
Human Phenotype Ontology Montrer/Cacher
| HP:0003593 | Infantile onset | Onset of signs or symptoms of disease between 28 days to one year of life. |
|---|---|---|
| HP:0011968 | Feeding difficulties | Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it. |
| HP:0430028 | Hyperplasia of the maxilla | Abnormally increased dimension of the maxilla, especially relative to the mandible, resulting in a malocclusion or malalignment between the upper and lower teeth or in anterior positioning of the nasal base, increased convexity of the face, increased nasolabial angle, or increased width (transverse dimension of the maxilla. |
| HP:0001250 | Seizure | A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. |
| HP:0002061 | Lower limb spasticity | Spasticity (velocity-dependent increase in tonic stretch reflexes with increased muscle tone and hyperexcitable tendon reflexes) in the muscles of the lower limbs, hips, and pelvis |
| HP:0000938 | Osteopenia | Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5. |
| HP:0001822 | Hallux valgus | Lateral deviation of the great toe (i.e., in the direction of the little toe). |
| HP:0030084 | Clinodactyly | An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe). |
| HP:0000347 | Micrognathia | Developmental hypoplasia of the mandible. |
| HP:0002783 | Recurrent lower respiratory tract infections | An increased susceptibility to lower respiratory tract infections as manifested by a history of recurrent lower respiratory tract infections. |
| HP:0200134 | Epileptic encephalopathy | A condition in which epileptiform abnormalities are believed to contribute to the progressive disturbance in cerebral function. Epileptic encephalaopathy is characterized by (1) electrographic EEG paroxysmal activity that is often aggressive, (2) seizures that are usually multiform and intractable, (3) cognitive, behavioral and neurological deficits that may be relentless, and (4) sometimes early death. |
| HP:0000252 | Microcephaly | Head circumference below 2 standard deviations below the mean for age and gender. |
| HP:0001263 | Global developmental delay | A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age. |
| HP:0000007 | Autosomal recessive inheritance | A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). |
| HP:0001508 | Failure to thrive | Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. |
| HP:0001684 | Secundum atrial septal defect | A kind of atrial septum defect arising from an enlarged foramen ovale, inadequate growth of the septum secundum, or excessive absorption of the septum primum. |
| HP:0001847 | Long hallux | Increased length of the big toe. |
| HP:0000490 | Deeply set eye | An eye that is more deeply recessed into the plane of the face than is typical. |
| HP:0000567 | Chorioretinal coloboma | Absence of a region of the retina, retinal pigment epithelium, and choroid. |
| HP:0011304 | Broad thumb | Increased thumb width without increased dorso-ventral dimension. |
| HP:0001518 | Small for gestational age | Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age. |
| HP:0000384 | Preauricular skin tag | A rudimentary tag of skin often containing ear tissue including a core of cartilage and located just anterior to the auricle (outer part of the ear). |
| HP:0001249 | Intellectual disability | Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70. |
| HP:0000218 | High palate | Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective). |
| HP:0000819 | Diabetes mellitus | A group of abnormalities characterized by hyperglycemia and glucose intolerance. |
| HP:0000400 | Macrotia | Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent increase in length and width of the pinna (subjective). |
| HP:0001252 | Hypotonia | Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist. |
| HP:0000768 | Pectus carinatum | A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum. |
| HP:0012444 | Brain atrophy | Partial or complete wasting (loss) of brain tissue that was once present. |
| HP:0000448 | Prominent nose | Distance between subnasale and pronasale more than two standard deviations above the mean, or alternatively, an apparently increased anterior protrusion of the nasal tip. |
pLI : 1
LOEUF : 0.21
sHet : 0.093
pHaplo : 0.53
pTriplo : 0.98
Localisation : 30,368,423 - 30,381,815
Localisation : 30,368,423 - 30,381,815
Base de donnée :
DecipherGenomics OMIM:613620 GTEx Portal Human Protein Atlas Ensembl
pLI : 0
LOEUF : 1.12
sHet : 0.02
pHaplo : 0.32
pTriplo : 0.53
Localisation : 25,227,052 - 25,240,253
Localisation : 25,227,052 - 25,240,253
Base de donnée :
DecipherGenomics OMIM:603750 GTEx Portal Human Protein Atlas Ensembl
pLI : 0
LOEUF : 0.66
sHet : 0.028
pHaplo : 0.1
pTriplo : 0.9
Localisation : 30,759,614 - 30,772,497
Localisation : 30,759,614 - 30,772,497
Maladie : Glycogen storage disease due to liver phosphorylase kinase deficiency
Source : Orphanet
Base de donnée :
DecipherGenomics PanelApp OMIM:172471 Orphanet:264580 HGNC:8931 GTEx Portal Human Protein Atlas Ensembl
Human Phenotype Ontology Montrer/Cacher
| HP:0001943 | Hypoglycemia | A decreased concentration of glucose in the blood. |
|---|---|---|
| HP:0001946 | Ketosis | Presence of elevated levels of ketone bodies in the body. |
| HP:0002360 | Sleep abnormality | An abnormal pattern in the quality, quantity, or characteristics of sleep. |
| HP:0002014 | Diarrhea | Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day. |
| HP:0001408 | Bile duct proliferation | Proliferative changes of the bile ducts. |
| HP:0002910 | Elevated hepatic transaminase | Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage. |
| HP:0001397 | Hepatic steatosis | Steatosis is a term used to denote lipid accumulation within hepatocytes. |
| HP:0003621 | Juvenile onset | Onset of signs or symptoms of disease between the age of 5 and 15 years. |
| HP:0000007 | Autosomal recessive inheritance | A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). |
| HP:0001508 | Failure to thrive | Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. |
| HP:0002913 | Myoglobinuria | Presence of myoglobin in the urine. |
| HP:0002194 | Delayed gross motor development | A type of motor delay characterized by a delay in acquiring the ability to control the large muscles of the body for walking, running, sitting, and crawling. |
| HP:0002018 | Nausea | A sensation of unease in the stomach together with an urge to vomit. |
| HP:0001395 | Hepatic fibrosis | The presence of excessive fibrous connective tissue in the liver. Fibrosis is a reparative or reactive process. |
| HP:0012379 | Abnormal circulating enzyme concentration or activity | Concentration or activity of an enzyme is above or below the limits of normal in the blood circulation. |
| HP:0006580 | Portal fibrosis | Fibroblast proliferation and fiber expansion from the portal areas to the lobule. |
| HP:0000823 | Delayed puberty | Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty. |
| HP:0003236 | Elevated circulating creatine kinase concentration | An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase (CK; EC 2.7.3.2) in the blood. CK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy. |
| HP:0004322 | Short stature | A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). |
| HP:0003124 | Hypercholesterolemia | An increased concentration of cholesterol in the blood. |
| HP:0002151 | Increased serum lactate | Abnormally increased level of blood lactate (2-hydroxypropanoic acid). Lactate is produced from pyruvate by lactate dehydrogenase during normal metabolism. The terms lactate and lactic acid are often used interchangeably but lactate (the component measured in blood) is strictly a weak base whereas lactic acid is the corresponding acid. Lactic acidosis is often used clinically to describe elevated lactate but should be reserved for cases where there is a corresponding acidosis (pH below 7.35). |
| HP:0004324 | Increased body weight | Abnormally increased body weight. |
| HP:0003162 | Fasting hypoglycemia | |
| HP:0000876 | Oligomenorrhea | Infrequent menses (less than 6 per year or more than 35 days between cycles). |
| HP:0001744 | Splenomegaly | Abnormal increased size of the spleen. |
| HP:0001249 | Intellectual disability | Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70. |
| HP:0003128 | Lactic acidosis | An abnormal buildup of lactic acid in the body, leading to acidification of the blood and other bodily fluids. |
| HP:0001947 | Renal tubular acidosis | Acidosis owing to malfunction of the kidney tubules with accumulation of metabolic acids and hyperchloremia, potentially leading to complications including hypokalemia, hypercalcinuria, nephrolithiasis and nephrocalcinosis. |
| HP:0001252 | Hypotonia | Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist. |
| HP:0006568 | Increased hepatic glycogen content | An increase in the amount of glycogen stored in hepatocytes compared to normal. |
| HP:0003593 | Infantile onset | Onset of signs or symptoms of disease between 28 days to one year of life. |
| HP:0030272 | Abnormal erythrocyte enzyme level | An altered level of any enzyme to act as catalysts within erythrocytes. This term includes changes due to altered activity of an enzyme. |
| HP:0003546 | Exercise intolerance | A functional motor deficit where individuals whose responses to the challenges of exercise fail to achieve levels considered normal for their age and gender. |
| HP:0001270 | Motor delay | A type of Developmental delay characterized by a delay in acquiring motor skills. |
| HP:0002013 | Vomiting | Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions. |
| HP:0002040 | Esophageal varix | Extreme dilation of the submucusoal veins in the lower portion of the esophagus. |
| HP:0000147 | Polycystic ovaries | |
| HP:0012028 | Hepatocellular adenoma | A benign tumor of the liver of presumably epithelial origin. |
| HP:0012378 | Fatigue | A subjective feeling of tiredness characterized by a lack of energy and motivation. |
| HP:0410175 | Hyperketonemia | An increase in the level of ketone bodies (acetoacetic acid, beta-hydroxybutyric acid, and acetone) in the blood. |
| HP:0000750 | Delayed speech and language development | A degree of language development that is significantly below the norm for a child of a specified age. |
| HP:0001903 | Anemia | A reduction in erythrocytes volume or hemoglobin concentration. |
| HP:0002155 | Hypertriglyceridemia | An abnormal increase in the level of triglycerides in the blood. |
| HP:0030232 | Increased sarcoplasmic glycogen | Elevated glycogen content in the sarcoplasm (cytoplasm) of muscle fibers. |
| HP:0001263 | Global developmental delay | A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age. |
| HP:0001510 | Growth delay | A deficiency or slowing down of growth pre- and postnatally. |
| HP:0000939 | Osteoporosis | Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD). |
| HP:0003394 | Muscle spasm | Sudden and involuntary contractions of one or more muscles. |
| HP:0001394 | Cirrhosis | A chronic disorder of the liver in which liver tissue becomes scarred and is partially replaced by regenerative nodules and fibrotic tissue resulting in loss of liver function. |
| HP:0002240 | Hepatomegaly | Abnormally increased size of the liver. |
| HP:0008897 | Postnatal growth retardation | Slow or limited growth after birth. |
| HP:0100607 | Dysmenorrhea | Pain during menstruation that interferes with daily activities. |
| HP:0001638 | Cardiomyopathy | A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality. |
| HP:0003323 | Progressive muscle weakness | |
| HP:0011463 | Childhood onset | Onset of disease at the age of between 1 and 5 years. |
| HP:0000858 | Irregular menstruation | Abnormally high variation in the amount of time between periods. |
| HP:0003326 | Myalgia | Pain in muscle. |
| HP:0001396 | Cholestasis | Impairment of bile flow due to obstruction in bile ducts. |
| HP:0003202 | Skeletal muscle atrophy | The presence of skeletal muscular atrophy (which is also known as amyotrophy). |
| HP:0002719 | Recurrent infections | Increased susceptibility to infections. |
pLI : 0.78
LOEUF : 0.51
sHet : 0.139
pHaplo : 0.4
pTriplo : 0.34
Localisation : 28,510,683 - 28,523,372
Localisation : 28,510,683 - 28,523,372
Base de donnée :
DecipherGenomics OMIM:608273 GTEx Portal Human Protein Atlas Ensembl
pLI : 1
LOEUF : 0.16
pHaplo : 0.53
pTriplo : 0.9
Localisation : 30,669,752 - 30,682,131
Localisation : 30,669,752 - 30,682,131
Base de donnée :
DecipherGenomics PanelApp OMIM:608601 GTEx Portal Human Protein Atlas Ensembl
pLI : 1
LOEUF : 0.24
sHet : 0.314
pHaplo : 0.9
pTriplo : 0.94
Localisation : 31,191,459 - 31,202,926
Localisation : 31,191,459 - 31,202,926
Maladie : Myxoid/round cell liposarcoma
Source : Orphanet
Base de donnée :
DecipherGenomics PanelApp OMIM:137070 Orphanet:99967 HGNC:4010 GTEx Portal Human Protein Atlas Ensembl
Human Phenotype Ontology Montrer/Cacher
| HP:0007373 | Motor neuron atrophy | Wasting involving the motor neuron. |
|---|---|---|
| HP:0002544 | Retrocollis | A form of torticollis in which the head is drawn back, either due to a permanent contractures of neck extensor muscles, or to a spasmodic contracture. |
| HP:0002169 | Clonus | A series of rhythmic and involuntary muscle contractions (at a frequency of about 5 to 7 Hz) that occur in response to an abruptly applied and sustained stretch. |
| HP:0001482 | Subcutaneous nodule | Slightly elevated lesions on or in the skin with a diameter of over 5 mm. |
| HP:0031936 | Delayed ability to walk | A failure to achieve the ability to walk at an appropriate developmental stage. Most children learn to walk in a series of stages, and learn to walk short distances independently between 12 and 15 months. |
| HP:0002273 | Tetraparesis | Weakness of all four limbs. |
| HP:0003722 | Neck flexor weakness | Weakness of the muscles involved in neck flexion (sternocleidomastoid, longus capitus, longus colli, and scalenus anterior). |
| HP:0000739 | Anxiety | Intense feelings of nervousness, tension, or panic often arise in response to interpersonal stresses. There is worry about the negative effects of past unpleasant experiences and future negative possibilities. Individuals may feel fearful, apprehensive, or threatened by uncertainty, and they may also have fears of falling apart or losing control. |
| HP:0002015 | Dysphagia | Difficulty in swallowing. |
| HP:0000712 | Emotional lability | Unstable emotional experiences and frequent mood changes; emotions that are easily aroused, intense, and/or disproportionate to events and circumstances. |
| HP:0001288 | Gait disturbance | The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease. |
| HP:0002283 | Global brain atrophy | Unlocalized atrophy of the brain with decreased total brain matter volume and increased ventricular size. |
| HP:0000508 | Ptosis | The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective). |
| HP:0000252 | Microcephaly | Head circumference below 2 standard deviations below the mean for age and gender. |
| HP:0030195 | Fatigable weakness of swallowing muscles | A type of weakness of the muscles involved in swallowing that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions. |
| HP:0002017 | Nausea and vomiting | Nausea is a commonly encountered symptom that has been defined as an unpleasant painless subjective feeling that one will imminently vomit. Vomiting has been defined as the forceful expulsion of the contents of the stomach, duodenum, or jejunum through the oral cavity. While nausea and vomiting are often thought to exist on a temporal continuum, this is not always the case. There are situations when severe nausea may be present without emesis and less frequently, when emesis may be present without preceding nausea. |
| HP:0003700 | Generalized amyotrophy | Generalized (diffuse, unlocalized) amyotrophy (muscle atrophy) affecting multiple muscles. |
| HP:0002878 | Respiratory failure | A severe form of respiratory insufficiency characterized by inadequate gas exchange such that the levels of oxygen or carbon dioxide cannot be maintained within normal limits. |
| HP:0003487 | Babinski sign | Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract. |
| HP:0001317 | Abnormal cerebellum morphology | Any structural abnormality of the cerebellum. |
| HP:0012048 | Oromandibular dystonia | A kind of focal dystonia characterized by forceful contractions of the face, jaw, and/or tongue causing difficulty in opening and closing the mouth and often affecting chewing and speech. |
| HP:0031960 | Arm dystonia | A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the arms. |
| HP:0000006 | Autosomal dominant inheritance | A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. |
| HP:0002027 | Abdominal pain | An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen. |
| HP:0007190 | Neuronal loss in the cerebral cortex | |
| HP:0007354 | Amyotrophic lateral sclerosis | |
| HP:0002179 | Opisthotonus | |
| HP:0005750 | Lower-limb joint contracture | A limitation in the passive range of motion of a joint of the lower limb resulting from loss of elasticity in the periarticular tissues owing to structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules or skin. |
| HP:0000217 | Xerostomia | Dryness of the mouth due to salivary gland dysfunction. |
| HP:0006986 | Upper limb spasticity | |
| HP:0002071 | Abnormality of extrapyramidal motor function | A neurological condition related to lesions of the basal ganglia leading to typical abnormalities including akinesia (inability to initiate changes in activity and perform volitional movements rapidly and easily), muscular rigidity (continuous contraction of muscles with constant resistance to passive movement), chorea (widespread arrhythmic movements of a forcible, rapid, jerky, and restless nature), athetosis (inability to sustain the muscles of the fingers, toes, or other group of muscles in a fixed position), and akathisia (inability to remain motionless). |
| HP:0002171 | Gliosis | Gliosis is the focal proliferation of glial cells in the central nervous system. |
| HP:0002314 | Degeneration of the lateral corticospinal tracts | Deterioration of the tissues of the lateral corticospinal tracts. |
| HP:0001260 | Dysarthria | Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed. |
| HP:0100543 | Cognitive impairment | Abnormal cognition is characterized by deficits in thinking, reasoning, or remembering. |
| HP:0100360 | Upper-limb joint contracture | A limitation in the passive range of motion of a joint of the upper limb resulting from loss of elasticity in the periarticular tissues owing to structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules or skin. |
| HP:0030051 | Tip-toe gait | An abnormal gait pattern characterized by the failure of the heel to contact the floor at the onset of stance during gait. |
| HP:0002145 | Frontotemporal dementia | A dementia associated with degeneration of the frontotemporal lobe and clinically associated with personality and behavioral changes such as disinhibition, apathy, and lack of insight. The hallmark feature of frontotemporal dementia is the presentation with focal syndromes such as progressive language dysfunction, or aphasia, or behavioral changes characteristic of frontal lobe disorders. |
| HP:0001257 | Spasticity | A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes. |
| HP:0003394 | Muscle spasm | Sudden and involuntary contractions of one or more muscles. |
| HP:0001265 | Hyporeflexia | Reduction of neurologic reflexes such as the knee-jerk reaction. |
| HP:0001324 | Muscle weakness | Reduced strength of muscles. |
| HP:0008322 | Abnormal mitochondrial morphology | Any structural anomaly of the mitochondria. |
| HP:0002385 | Paraparesis | Weakness or partial paralysis in the lower limbs. |
| HP:0003470 | Paralysis | Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Motor paralysis results from deficits of the upper motor neurons (corticospinal, corticobulbar, or subcorticospinal). Motor paralysis is often accompanied by an impairment in the facility of movement. |
| HP:0100295 | Muscle fiber atrophy | |
| HP:0030223 | Perseverative thought | Manifestations of perseverative thoughts are behaviors that do not meet the demands of the situation, are not the product of deliberation, and may unfold despite counter intention. |
| HP:0002127 | Abnormal upper motor neuron morphology | Any structural anomaly that affects the upper motor neuron. |
| HP:0003202 | Skeletal muscle atrophy | The presence of skeletal muscular atrophy (which is also known as amyotrophy). |
| HP:0004326 | Cachexia | Severe weight loss, wasting of muscle, loss of appetite, and general debility related to a chronic disease. |
| HP:0002073 | Progressive cerebellar ataxia | |
| HP:0002795 | Abnormal respiratory system physiology | |
| HP:0001276 | Hypertonia | A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move. |
| HP:0000605 | Supranuclear gaze palsy | A supranuclear gaze palsy is an inability to look in a particular direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal. |
| HP:0030196 | Fatigable weakness of respiratory muscles | A type of weakness of the muscles involved in breathing (respiration) that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions. |
| HP:0002599 | Head titubation | A head tremor of moderate speed (3 to 4 Hz) in the anterior-posterior direction. |
| HP:0003429 | CNS hypomyelination | Reduced amount of myelin in the central nervous system resulting from defective myelinogenesis. |
| HP:0002061 | Lower limb spasticity | Spasticity (velocity-dependent increase in tonic stretch reflexes with increased muscle tone and hyperexcitable tendon reflexes) in the muscles of the lower limbs, hips, and pelvis |
| HP:0002442 | Dyscalculia | A specific learning disability involving mathematics and arithmetic. |
| HP:0000708 | Atypical behavior | Atypical behavior is an abnormality in a person's actions, which can be controlled or modulated by the will of the individual. While abnormal behaviors can be difficult to control, they are distinct from other abnormal actions that cannot be affected by the individual's will. |
| HP:0002460 | Distal muscle weakness | Reduced strength of the musculature of the distal extremities. |
| HP:0001348 | Brisk reflexes | Tendon reflexes that are noticeably more active than usual (conventionally denoted 3+ on clinical examination). Brisk reflexes may or may not indicate a neurological lesion. They are distinguished from hyperreflexia by the fact that hyerreflexia is characterized by hyperactive repeating (clonic) reflexes, which are considered to be always abnormal. |
| HP:0000020 | Urinary incontinence | Loss of the ability to control the urinary bladder leading to involuntary urination. |
| HP:0002072 | Chorea | Chorea (Greek for 'dance') refers to widespread arrhythmic involuntary movements of a forcible, jerky and restless fashion. It is a random-appearing sequence of one or more discrete involuntary movements or movement fragments. Movements appear random because of variability in timing, duration or location. Each movement may have a distinct start and end. However, movements may be strung together and thus may appear to flow randomly from one muscle group to another. Chorea can involve the trunk, neck, face, tongue, and extremities. |
| HP:0011471 | Gastrostomy tube feeding in infancy | Feeding problem necessitating gastrostomy tube feeding. |
| HP:0002094 | Dyspnea | Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale. |
| HP:0008619 | Bilateral sensorineural hearing impairment | A bilateral form of sensorineural hearing impairment. |
| HP:0010549 | Weakness due to upper motor neuron dysfunction | Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Paralysis due to lesions of the principle motor tracts is related to a lesion in the corticospinal, corticobulbar or brainstem descending (subcorticospinal) neurons. |
| HP:0000734 | Disinhibition | Reduced ability to control, or a failure to resist a temptation, urge, or impulse. Examples include disregard for social conventions, general impulsivity, and poor risk assessment. |
| HP:0000738 | Hallucinations | Perceptions in a conscious and awake state that, in the absence of external stimuli, have qualities of real perception. These perceptions are vivid, substantial, and located in external objective space. |
| HP:0002530 | Axial dystonia | A type of dystonia that affects the midline muscles, i.e., the chest, abdominal, and back muscles. |
| HP:0001251 | Ataxia | Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly). |
| HP:0002425 | Anarthria | A defect in the motor ability that enables speech. |
| HP:0000639 | Nystagmus | Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms. |
| HP:0002650 | Scoliosis | The presence of an abnormal lateral curvature of the spine. |
| HP:0002180 | Neurodegeneration | Progressive loss of neural cells and tissue. |
| HP:0001264 | Spastic diplegia | Spasticity (neuromuscular hypertonia) primarily in the muscles of the legs, hips, and pelvis. |
| HP:0001283 | Bulbar palsy | Bulbar weakness (or bulbar palsy) refers to bilateral impairment of function of the lower cranial nerves IX, X, XI and XII, which occurs due to lower motor neuron lesion either at nuclear or fascicular level in the medulla or from bilateral lesions of the lower cranial nerves outside the brain-stem. Bulbar weakness is often associated with difficulty in chewing, weakness of the facial muscles, dysarthria, palatal weakness and regurgitation of fluids, dysphagia, and dysphonia. |
| HP:0030192 | Fatigable weakness of bulbar muscles | A type of weakness of the bulbar muscles (muscles of the mouth and throat responsible for speech and swallowing) that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions. |
| HP:0003701 | Proximal muscle weakness | A lack of strength of the proximal muscles. |
| HP:0003693 | Distal amyotrophy | Muscular atrophy affecting muscles in the distal portions of the extremities. |
| HP:0012378 | Fatigue | A subjective feeling of tiredness characterized by a lack of energy and motivation. |
| HP:0002540 | Inability to walk | Incapability to ambulate. |
| HP:0002483 | Bulbar signs | |
| HP:0002366 | Abnormal lower motor neuron morphology | Any structural anomaly of the lower motor neuron. |
| HP:0002355 | Difficulty walking | Reduced ability to walk (ambulate). |
| HP:0001263 | Global developmental delay | A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age. |
| HP:0001300 | Parkinsonism | Characteristic neurologic anomaly resulting from degeneration of dopamine-generating cells in the substantia nigra, a region of the midbrain, characterized clinically by shaking, rigidity, slowness of movement and difficulty with walking and gait. |
| HP:0003324 | Generalized muscle weakness | Generalized weakness or decreased strength of the muscles, affecting both distal and proximal musculature. |
| HP:0007126 | Proximal amyotrophy | Amyotrophy (muscular atrophy) affecting the proximal musculature. |
| HP:0012531 | Pain | An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage. |
| HP:0025425 | Laryngospasm | A spasm (involuntary contraction) of the vocal cords that can make it difficult to speak or breathe. |
| HP:0000716 | Depression | Frequently experiencing feelings of being down, miserable, and/or hopeless; struggling to recover from these moods; having a pessimistic outlook on the future; feeling a pervasive sense of shame; having a low self-worth; experiencing thoughts of suicide and engaging in suicidal behavior. |
| HP:0002380 | Fasciculations | Fasciculations are observed as small, local, involuntary muscle contractions (twitching) visible under the skin. Fasciculations result from increased irritability of an axon (which in turn is often a manifestation of disease of a motor neuron). This leads to sporadic discharges of all the muscle fibers controlled by the axon in isolation from other motor units. |
| HP:0002345 | Action tremor | A tremor present when the limbs are active, either when outstretched in a certain position or throughout a voluntary movement. |
| HP:0002300 | Mutism | Inability to speak or communicate verbally past the age of typical language development. |
| HP:0000741 | Apathy | Apathy is a quantitative reduction of motivation and the initiation and persistence of goal-directed behavior, where the accompanying emotions, thoughts, and social interactions are also suppressed. |
| HP:0000713 | Agitation | A state of extreme restlessness and excessive motor activity is associated with mental distress or a feeling of inner tension. |
| HP:0002167 | Abnormality of speech or vocalization | Abnormalities in the sound of a person's speech or vocalization are not necessarily associated with a known physical cause or due to stuttering or stammering. |
| HP:0002186 | Apraxia | A defect in the understanding of complex motor commands and in the execution of certain learned movements, i.e., deficits in the cognitive components of learned movements. |
| HP:0001332 | Dystonia | An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk. |
| HP:0002174 | Postural tremor | A type of tremors that is triggered by holding a limb in a fixed position. |
| HP:0002579 | Gastrointestinal dysmotility | Abnormal intestinal contractions, such as spasms and intestinal paralysis, related to the loss of the ability of the gut to coordinate muscular activity because of endogenous or exogenous causes. |
| HP:0002529 | Neuronal loss in central nervous system |
pLI : 0
LOEUF : 1.07
sHet : 0.004
pHaplo : 0.21
pTriplo : 0.68
Localisation : 31,150,247 - 31,161,404
Localisation : 31,150,247 - 31,161,404
Base de donnée :
DecipherGenomics OMIM:610560 GTEx Portal Human Protein Atlas Ensembl
pLI : 0.02
LOEUF : 0.6
sHet : 0.073
pHaplo : 0.07
pTriplo : 0.73
Localisation : 28,985,542 - 28,995,869
Localisation : 28,985,542 - 28,995,869
Base de donnée :
DecipherGenomics OMIM:612583 GTEx Portal Human Protein Atlas Ensembl
pLI : 0
LOEUF : 1.16
sHet : 0.004
pHaplo : 0.06
pTriplo : 0.34
Localisation : 31,044,210 - 31,054,296
Localisation : 31,044,210 - 31,054,296
Base de donnée :
DecipherGenomics PanelApp OMIM:186591 GTEx Portal Human Protein Atlas Ensembl
pLI : 0
LOEUF : 0.52
sHet : 0.065
pHaplo : 0.33
pTriplo : 0.8
Localisation : 31,085,743 - 31,095,517
Localisation : 31,085,743 - 31,095,517
Base de donnée :
DecipherGenomics OMIM:619299 GTEx Portal Human Protein Atlas Ensembl
pLI : 0.04
LOEUF : 0.61
sHet : 0.026
pHaplo : 0.08
pTriplo : 0.95
Localisation : 30,125,426 - 30,134,827
Localisation : 30,125,426 - 30,134,827
Base de donnée :
DecipherGenomics PanelApp OMIM:601795 GTEx Portal Human Protein Atlas Ensembl
SFARI (Base de donnée sur l'autisme) :
Score du gène : 2
N'est pas syndromique
Pas de score EAGLE
Rapports : 6
pLI : 0.46
LOEUF : 0.49
sHet : 0.065
pHaplo : 0.34
pTriplo : 0.99
Localisation : 30,087,299 - 30,096,697
Localisation : 30,087,299 - 30,096,697
Base de donnée :
DecipherGenomics OMIM:602035 GTEx Portal Human Protein Atlas Ensembl
pLI : 0.11
LOEUF : 0.49
sHet : 0.039
pHaplo : 0.3
pTriplo : 0.8
Localisation : 31,469,401 - 31,478,487
Localisation : 31,469,401 - 31,478,487
Maladie : Cushing syndrome due to macronodular adrenal hyperplasia
Source : Orphanet
Base de donnée :
DecipherGenomics PanelApp OMIM:615549 Orphanet:189427 HGNC:25781 PMID:24283224 GTEx Portal Human Protein Atlas Ensembl
Human Phenotype Ontology Montrer/Cacher
| HP:0002354 | Memory impairment | An impairment of memory as manifested by a reduced ability to remember things such as dates and names, and increased forgetfulness. |
|---|---|---|
| HP:0100754 | Mania | A state of abnormally elevated or irritable mood, arousal, and/or energy levels. |
| HP:0001952 | Glucose intolerance | Glucose intolerance (GI) can be defined as dysglycemia that comprises both prediabetes and diabetes. It includes the conditions of impaired fasting glucose (IFG) and impaired glucose tolerance (IGT) and diabetes mellitus (DM). |
| HP:0003701 | Proximal muscle weakness | A lack of strength of the proximal muscles. |
| HP:0008231 | Macronodular adrenal hyperplasia | |
| HP:0002659 | Increased susceptibility to fractures | An abnormally increased tendency to fractures of bones caused by an abnormal reduction in bone strength that is generally associated with an increased risk of fracture. |
| HP:0000787 | Nephrolithiasis | The presence of calculi (stones) in the kidneys. |
| HP:0003077 | Hyperlipidemia | An elevated lipid concentration in the blood. |
| HP:0000859 | Hyperaldosteronism | Overproduction of the mineralocorticoid aldosterone by the adrenal cortex. |
| HP:0100634 | Neuroendocrine neoplasm | A tumor that originates from a neuroendocrine cell. |
| HP:0012378 | Fatigue | A subjective feeling of tiredness characterized by a lack of energy and motivation. |
| HP:0000712 | Emotional lability | Unstable emotional experiences and frequent mood changes; emotions that are easily aroused, intense, and/or disproportionate to events and circumstances. |
| HP:0100543 | Cognitive impairment | Abnormal cognition is characterized by deficits in thinking, reasoning, or remembering. |
| HP:0500011 | Moon facies | A rounded, puffy face with fat deposits in the temporal fossa and cheeks, a double chin. |
| HP:0001397 | Hepatic steatosis | Steatosis is a term used to denote lipid accumulation within hepatocytes. |
| HP:0003581 | Adult onset | Onset of disease manifestations in adulthood, defined here as at the age of 16 years or later. |
| HP:0008200 | Primary hyperparathyroidism | A type of hyperparathyroidism caused by a primary abnormality of the parathyroid glands (e.g., adenoma, carcinoma, hyperplasia). Primary hyperparathyroidism is associated with hyercalcemia. |
| HP:0002893 | Pituitary adenoma | A benign epithelial tumor derived from intrinsic cells of the adenohypophysis (anterior pituitary). |
| HP:0012030 | Increased urinary cortisol level | Abnormally increased concentration of cortisol in the urine. |
| HP:0012743 | Abdominal obesity | Excessive fat around the stomach and abdomen. |
| HP:0000725 | Psychotic episodes | Periods of time during which an individual experiences significant disturbances in their thoughts, perceptions, emotions, and behavior, resulting in a loss of touch with reality. These episodes are hallmark features of psychotic disorders such as schizophrenia, schizoaffective disorder, and certain forms of bipolar disorder. |
| HP:0007126 | Proximal amyotrophy | Amyotrophy (muscular atrophy) affecting the proximal musculature. |
| HP:0000939 | Osteoporosis | Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD). |
| HP:0001007 | Hirsutism | Abnormally increased hair growth referring to a male pattern of body hair (androgenic hair). |
| HP:0031845 | Abnormal libido | Any deviation from the normal sexual drive or desire for sexual activity. |
| HP:0001596 | Alopecia | A noncongenital process of hair loss, which may progress to partial or complete baldness. |
| HP:0025383 | Dorsocervical fat pad | An area of fat accumulation at the back of the neck in the form of a hump. |
| HP:0002858 | Meningioma | The presence of a meningioma, i.e., a benign tumor originating from the dura mater or arachnoid mater. |
| HP:0003466 | Paradoxical increased cortisol secretion on dexamethasone suppression test | |
| HP:0000006 | Autosomal dominant inheritance | A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. |
| HP:0002920 | Decreased circulating ACTH concentration | The concentration of corticotropin, also known as adrenocorticotropic hormone (ACTH), is below the lower limit of normal in the blood circulation. |
| HP:0000858 | Irregular menstruation | Abnormally high variation in the amount of time between periods. |
| HP:0000716 | Depression | Frequently experiencing feelings of being down, miserable, and/or hopeless; struggling to recover from these moods; having a pessimistic outlook on the future; feeling a pervasive sense of shame; having a low self-worth; experiencing thoughts of suicide and engaging in suicidal behavior. |
| HP:0004324 | Increased body weight | Abnormally increased body weight. |
| HP:0003074 | Hyperglycemia | An increased concentration of glucose in the blood. |
| HP:0000311 | Round face | The facial appearance is more circular than usual as viewed from the front. |
| HP:0001050 | Plethora | |
| HP:0001442 | Typified by somatic mosaicism | Description of conditions in which affected individuals typically display somatic mosaicism, i.e., genetically distinct populations of somatic cells in a given organism caused by DNA mutations, epigenetic alterations of DNA, chromosomal abnormalities or the spontaneous reversion of inherited mutations. In many conditions typified by somatic mosaicism, constitutive mutation is lethal and cases are exclusively or predominantly mosaic. |
| HP:0001065 | Striae distensae | Thinned, erythematous, depressed bands of atrophic skin. Initially, striae appear as flattened and thinned, pinkish linear regions of the skin. Striae tend to enlarge in length and become reddish or purplish. Later, striae tend to appear as white, depressed bands that are parallel to the lines of skin tension. Striae distensae occur most often in areas that have been subject to distension such as the lower back, buttocks, thighs, breast, abdomen, and shoulders. |
| HP:0031077 | Abnormal response to corticotropin releasing hormone stimulation test | An anomalous response to the corticotropin releasing hormone (CRH) stimulation test. Normally,CRH is released by the hypothalamus to induce adrenocorticotropic hormone (ACTH) release by the anterior pituitary. In the stimulation test, CRH is administered intravenously and ACTH and cortisol are measured at intervals. |
| HP:0005584 | Renal cell carcinoma | A type of carcinoma of the kidney with origin in the epithelium of the proximal convoluted renal tubule. |
| HP:0000978 | Bruising susceptibility | An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma. |
| HP:0000822 | Hypertension | The presence of chronic increased pressure in the systemic arterial system. |
| HP:0001061 | Acne | A skin condition in which there is an increase in sebum secretion by the pilosebaceous apparatus associated with open comedones (blackheads), closed comedones (whiteheads), and pustular nodules (papules, pustules, and cysts). |
| HP:0003118 | Increased circulating cortisol level | Overproduction of the hormone of cortisol by the adrenal cortex, resulting in a characteristic combination of clinical symptoms termed Cushing syndrome, with truncal obesity, a round, full face, striae atrophicae and acne, muscle weakness, and other features. |
pLI : 0
LOEUF : 1.54
sHet : 0.005
pHaplo : 0.29
pTriplo : 0.41
Localisation : 28,616,517 - 28,625,600
Localisation : 28,616,517 - 28,625,600
Base de donnée :
DecipherGenomics OMIM:171150 GTEx Portal Human Protein Atlas Ensembl
pLI : 1
LOEUF : 0.17
sHet : 0.234
pHaplo : 0.56
pTriplo : 0.96
Localisation : 30,789,777 - 30,798,526
Localisation : 30,789,777 - 30,798,526
Base de donnée :
DecipherGenomics OMIM:619587 GTEx Portal Human Protein Atlas Ensembl
pLI : 0
LOEUF : 1.51
sHet : 0.004
pHaplo : 0.13
pTriplo : 0.35
Localisation : 30,116,131 - 30,124,858
Localisation : 30,116,131 - 30,124,858
Base de donnée :
DecipherGenomics OMIM:616318 GTEx Portal Human Protein Atlas Ensembl
pLI : 0.01
LOEUF : 1.94
sHet : 0.031
pHaplo : 0.09
pTriplo : 0.16
Localisation : 29,674,300 - 29,682,197
Localisation : 29,674,300 - 29,682,197
Base de donnée :
DecipherGenomics OMIM:182160 GTEx Portal Human Protein Atlas Ensembl
Human Phenotype Ontology Montrer/Cacher
| HP:0006233 | Osteoarthritis of the distal interphalangeal joint | |
|---|---|---|
| HP:0000006 | Autosomal dominant inheritance | A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. |
| HP:0002829 | Arthralgia | Joint pain. |
| HP:0002758 | Osteoarthritis | Degeneration (wear and tear) of articular cartilage, i.e., of the joint surface. Joint degeneration may be accompanied by osteophytes (bone overgrowth), narrowing of the joint space, regions of sclerosis at the joint surface, or joint deformity. |
| HP:0001387 | Joint stiffness | Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time. |
| HP:0006226 | Osteoarthritis of the first carpometacarpal joint |
pLI : 0
LOEUF : 1.12
sHet : 0.007
pHaplo : 0.23
pTriplo : 0.38
Localisation : 31,494,323 - 31,502,181
Localisation : 31,494,323 - 31,502,181
Maladie : Familial renal glucosuria
Source : Orphanet
Base de donnée :
DecipherGenomics PanelApp OMIM:182381 Orphanet:69076 HGNC:11037 PMID:14614622 PMID:21165652 PMID:24255686 GTEx Portal Human Protein Atlas Ensembl
Human Phenotype Ontology Montrer/Cacher
| HP:0004924 | Abnormal oral glucose tolerance | An abnormal resistance to glucose, i.e., a reduction in the ability to maintain glucose levels in the blood stream within normal limits following oral administration of glucose. |
|---|---|---|
| HP:0000010 | Recurrent urinary tract infections | Repeated infections of the urinary tract. |
| HP:0008855 | Moderate postnatal growth retardation | A moderate degree of slow or limited growth after birth, being between three and four standard deviations below age- and sex-related norms. |
| HP:0001946 | Ketosis | Presence of elevated levels of ketone bodies in the body. |
| HP:0040214 | Abnormal circulating insulin concentration | An abnormal concentration of insulin in the body. |
| HP:0000006 | Autosomal dominant inheritance | A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. |
| HP:0003074 | Hyperglycemia | An increased concentration of glucose in the blood. |
| HP:0010677 | Enuresis nocturna | Enuresis occurring during sleeping hours. |
| HP:0000112 | Nephropathy | A nonspecific term referring to disease or damage of the kidneys. |
| HP:0000805 | Enuresis | Lack of the ability to control the urinary bladder leading to involuntary urination at an age where control of the bladder should already be possible. |
| HP:0000124 | Renal tubular dysfunction | Abnormal function of the renal tubule. The basic functional unit of the kidney, the nephron, consists of a renal corpuscle attached to a renal tubule, with roughly 0.8 to 1.5 nephrons per adult kidney. The functions of the renal tubule include reabsorption of water, electrolytes, glucose, and amino acids and secretion of substances such as uric acid. |
| HP:0001959 | Polydipsia | Excessive thirst manifested by excessive fluid intake. |
| HP:0003076 | Glycosuria | An increased concentration of glucose in the urine. |
| HP:0002591 | Polyphagia | A neurological anomaly with gross overeating associated with an abnormally strong desire or need to eat. |
| HP:0003828 | Variable expressivity | A variable severity of phenotypic features. |
| HP:0040217 | Elevated hemoglobin A1c | An increased concentration of hemoglobin A1c (HbA1c), which is the product of nonenzymatic attachment of a hexose molecule to the N-terminal amino acid of the hemoglobin molecule. This reaction is dependent on blood glucose concentration, and therefore reflects the mean glucose concentration over the previous 8 to 12 weeks. The HbA1c level provides a better indication of long-term glycemic control than one-time blood or urinary glucose measurements. |
| HP:0000103 | Polyuria | An increased rate of urine production. |
| HP:0000007 | Autosomal recessive inheritance | A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). |
| HP:0000855 | Insulin resistance | Increased resistance towards insulin, that is, diminished effectiveness of insulin in reducing blood glucose levels. |
| HP:0001944 | Dehydration |
pLI : 0.03
LOEUF : 1.23
sHet : 0.006
pHaplo : 0.14
pTriplo : 0.49
Localisation : 30,960,389 - 30,967,782
Localisation : 30,960,389 - 30,967,782
Base de donnée :
DecipherGenomics OMIM:610930 GTEx Portal Human Protein Atlas Ensembl
pLI : 0.9
LOEUF : 0.35
sHet : 0.047
pHaplo : 0.4
pTriplo : 0.34
Localisation : 28,943,286 - 28,950,663
Localisation : 28,943,286 - 28,950,663
Maladie : Common variable immunodeficiency
Source : Orphanet
Base de donnée :
DecipherGenomics PanelApp OMIM:107265 Orphanet:1572 HGNC:1633 GTEx Portal Human Protein Atlas Ensembl
Human Phenotype Ontology Montrer/Cacher
| HP:0002633 | Vasculitis | Inflammation of blood vessel. |
|---|---|---|
| HP:0002205 | Recurrent respiratory infections | An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections. |
| HP:0002023 | Anal atresia | Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract. |
| HP:0002014 | Diarrhea | Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day. |
| HP:0002960 | Autoimmunity | The occurrence of an immune reaction against the organism's own cells or tissues. |
| HP:0002829 | Arthralgia | Joint pain. |
| HP:0002910 | Elevated hepatic transaminase | Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage. |
| HP:0002837 | Recurrent bronchitis | An increased susceptibility to bronchitis as manifested by a history of recurrent bronchitis. |
| HP:0002091 | Restrictive ventilatory defect | A functional defect characterized by reduced total lung capacity (TLC) not associated with abnormalities of expiratory airflow or airway resistance. Spirometrically, a restrictive defect is defined as FEV1 (forced expiratory volume in 1 second) and FVC (forced vital capacity) less than 80 per cent. Restrictive lung disease may be caused by alterations in lung parenchyma or because of a disease of the pleura, chest wall, or neuromuscular apparatus. |
| HP:0002097 | Emphysema | |
| HP:0003621 | Juvenile onset | Onset of signs or symptoms of disease between the age of 5 and 15 years. |
| HP:0001878 | Hemolytic anemia | A type of anemia caused by premature destruction of red blood cells (hemolysis). |
| HP:0011839 | Abnormal T cell count | A deviation from the normal count of T cells. |
| HP:0011108 | Recurrent sinusitis | A recurrent form of sinusitis. |
| HP:0000007 | Autosomal recessive inheritance | A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). |
| HP:0002718 | Recurrent bacterial infections | Increased susceptibility to bacterial infections, as manifested by recurrent episodes of bacterial infection. |
| HP:0002721 | Immunodeficiency | Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance. |
| HP:0030388 | Decreased proportion of class-switched memory B cells | A reduction in the normal proportion of class-switched memory B cells (CD19+/CD27+/IgM+/IgD+) relative to the total number of B cells. Marginal zone B cells undergo limited somatic hypermutation and produce high-affinity IgM and some IgG, whereas class-switched memory B cells synthetize IgG, IgM, and IgA. |
| HP:0006783 | Posterior pharyngeal cleft | |
| HP:0002850 | Decreased circulating total IgM | An abnormally decreased level of immunoglobulin M (IgM) in blood. |
| HP:0000006 | Autosomal dominant inheritance | A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. |
| HP:0001744 | Splenomegaly | Abnormal increased size of the spleen. |
| HP:0000388 | Otitis media | Inflammation or infection of the middle ear. |
| HP:0002729 | Follicular hyperplasia | Lymphadenopathy (enlargement of lymph nodes) owing to hyperplasia of follicular (germinal) centers. |
| HP:0001287 | Meningitis | Inflammation of the meninges. |
| HP:0005387 | Combined immunodeficiency | A group of phenotypically heterogeneous genetic disorders characterized by profound deficiencies of T- and B-cell function, which predispose the patients to both infectious and noninfectious complications. |
| HP:0005435 | Impaired T cell function | Abnormally reduced ability of T cells to perform their functions in cell-mediated immunity. |
| HP:0000248 | Brachycephaly | An abnormality of skull shape characterized by a decreased anterior-posterior diameter. That is, a cephalic index greater than 81%. Alternatively, an apparently shortened anteroposterior dimension (length) of the head compared to width. |
| HP:0002716 | Lymphadenopathy | Enlargment (swelling) of a lymph node. |
| HP:0000389 | Chronic otitis media | Chronic otitis media refers to fluid, swelling, or infection of the middle ear that does not heal and may cause permanent damage to the ear. |
| HP:0003593 | Infantile onset | Onset of signs or symptoms of disease between 28 days to one year of life. |
| HP:0001392 | Abnormality of the liver | An abnormality of the liver. |
| HP:0032139 | Reduced isohemagglutinin level | Level of isohemagglutinin reduced below expected concentration. An isohemagglutinin refers to the naturally occurring antibodies in the ABO blood group system (i.e., anti-A in a group B person, anti-B in a group A person, and anti-A, anti-B, and anti-A,B in a group O person). |
| HP:0004313 | Decreased circulating antibody level | An abnormally decreased level of immunoglobulin in blood. |
| HP:0002090 | Pneumonia | Inflammation of any part of the lung parenchyma. |
| HP:0032134 | Chronic decreased circulating total IgG | A lasting reduction beneath the normal level of total immunoglobulin G (IgG) in the blood. |
| HP:0100723 | Gastrointestinal stroma tumor | |
| HP:0410301 | Partial absence of specific antibody response to unconjugated pneumococcus vaccine | A reduced ability to synthesize postvaccination antibodies against a pneumococcus antigen, as measured by antibody titer determination following vaccination. |
| HP:0000403 | Recurrent otitis media | Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media. |
| HP:0002720 | Decreased circulating IgA level | Decreased levels of immunoglobulin A (IgA). |
| HP:0002664 | Neoplasm | An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant neoplasm (tumor). |
| HP:0001973 | Autoimmune thrombocytopenia | The presence of thrombocytopenia in combination with detection of antiplatelet antibodies. |
| HP:0001531 | Failure to thrive in infancy | |
| HP:0002110 | Bronchiectasis | Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways. |
| HP:0002240 | Hepatomegaly | Abnormally increased size of the liver. |
| HP:0011463 | Childhood onset | Onset of disease at the age of between 1 and 5 years. |
| HP:0000509 | Conjunctivitis | Inflammation of the conjunctiva. |
| HP:0002665 | Lymphoma | A cancer originating in lymphocytes and presenting as a solid tumor of lymhpoid cells. |
| HP:0001888 | Lymphopenia | A reduced number of lymphocytes in the blood. |
| HP:0000979 | Purpura | Purpura (from Latin: purpura, meaning "purple") is the appearance of red or purple discolorations on the skin that do not blanch on applying pressure. They are caused by bleeding underneath the skin. This term refers to an abnormally increased susceptibility to developing purpura. Purpura are larger than petechiae. |
| HP:0004315 | Decreased circulating IgG level | An abnormally decreased level of immunoglobulin G (IgG) in blood. |
| HP:0010975 | Abnormal B cell count | A deviation from the normal count of B cells, i.e., the cells that are formed in the bone marrow, migrate to the peripheral lymphatic system, and mature into plasma cells or memory cells. |
| HP:0006532 | Recurrent pneumonia | An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia. |
pLI : 0.76
LOEUF : 0.52
Localisation : 30,382,255 - 30,389,312
Localisation : 30,382,255 - 30,389,312
Maladie : mylpf arthrogryposis (monoallelic)
Source : DDG2P
Base de donnée :
DecipherGenomics OMIM:617378 GTEx Portal Human Protein Atlas Ensembl
Human Phenotype Ontology Montrer/Cacher
| HP:0000278 | Retrognathia | An abnormality in which the mandible is mislocalised posteriorly. |
|---|---|---|
| HP:0004209 | Clinodactyly of the 5th finger | Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger). |
| HP:0000175 | Cleft palate | Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate). |
| HP:0100490 | Camptodactyly of finger | The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers cannot be extended to 180 degrees by either active or passive extension. |
| HP:0002987 | Elbow flexion contracture | An elbow contracture that limits the ability of the elbow joint to be extended (straightened), meaning that the elbow is fixed in an flexed (bent) position. |
| HP:0000028 | Cryptorchidism | Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum. |
| HP:0000205 | Pursed lips | An abnormality of the appearance of the face caused by constant contraction of the lips leading to a puckered or pursed appearance. |
| HP:0001239 | Wrist flexion contracture | A chronic loss of wrist joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevent normal movement of the joints of the wrist. |
| HP:0003044 | Shoulder flexion contracture | Chronic reduction in active and passive mobility of the shoulder joint due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement. |
| HP:0006380 | Knee flexion contracture | A type of knee joint contracture in which the knee is in a fixed bent (flexed) configuration such that it cannot be straightened actively or passively. |
| HP:0001836 | Camptodactyly of toe | Camptodactyly is a painless flexion contracture of the proximal interphalangeal (PIP) joint that is usually gradually progressive. This term refers to camptodactyly of one or more toes. |
| HP:0000233 | Thin vermilion border | Height of the vermilion of the medial part of the lip more than 2 SD below the mean, or apparently reduced height of the vermilion of the lip in the frontal view. The vermilion is the red part of the lips (and confusingly, the vermilion itself is also often referred to as being equivalent the lips). |
| HP:0001762 | Talipes equinovarus | Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg. |
| HP:0003577 | Congenital onset | A phenotypic abnormality that is present at birth. |
| HP:0003273 | Hip contracture | Lack of full passive range of motion (restrictions in flexion, extension, or other movements) of the hip joint resulting from structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules and/or skin. |
| HP:0000007 | Autosomal recessive inheritance | A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). |
| HP:0001181 | Adducted thumb | In the resting position, the tip of the thumb is on, or near, the palm, close to the base of the fourth or fifth finger. |
| HP:0000160 | Narrow mouth | Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective). |
| HP:0000581 | Blepharophimosis | A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures. |
| HP:0000466 | Limited neck range of motion | |
| HP:0004322 | Short stature | A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). |
| HP:0000470 | Short neck | Diminished length of the neck. |
| HP:0000006 | Autosomal dominant inheritance | A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. |
| HP:0006070 | Metacarpophalangeal joint contracture | A chronic loss of joint motion in metacarpophalangeal joints due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement. |
| HP:0002650 | Scoliosis | The presence of an abnormal lateral curvature of the spine. |
| HP:0410030 | Cleft lip | A gap in the lip or lips. |
| HP:0000218 | High palate | Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective). |
| HP:0033357 | Limited head rotation | Reduced range of motion turning the head side to side. |
| HP:0004325 | Decreased body weight | Abnormally low body weight. |
| HP:0010880 | Increased nuchal translucency | Nuchal translucency is the sonographic appearance of subcutaneous accumulation of liquid in the back of the fetal neck in the first trimester of pregnancy (11-14 gestational weeks of pregnancy). |
| HP:0000193 | Bifid uvula | Uvula separated into two parts most easily seen at the tip. |
| HP:0001838 | Rocker bottom foot | The presence of both a prominent heel and a convex contour of the sole. |
pLI : 0.04
LOEUF : 1.74
pHaplo : 0.16
pTriplo : 0.22
Localisation : 30,907,935 - 30,914,868
Localisation : 30,907,935 - 30,914,868
Base de donnée :
DecipherGenomics PanelApp OMIM:600435 GTEx Portal Human Protein Atlas Ensembl
pLI : 0
LOEUF : 0.87
sHet : 0.016
pHaplo : 0.07
pTriplo : 0.68
Localisation : 31,117,428 - 31,124,112
Localisation : 31,117,428 - 31,124,112
Maladie : Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency
Source : Orphanet
Base de donnée :
DecipherGenomics PanelApp OMIM:614901 Orphanet:308410 HGNC:16902 PMID:22956686 GTEx Portal Human Protein Atlas Ensembl
Human Phenotype Ontology Montrer/Cacher
| HP:0001249 | Intellectual disability | Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70. |
|---|---|---|
| HP:0000717 | Autism | Autism is a neurodevelopmental disorder characterized by impaired social interaction and communication, and by restricted and repetitive behavior. Autism begins in childhood. It is marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest. Manifestations of the disorder vary greatly depending on the developmental level and chronological age of the individual (DSM-IV). |
| HP:0001250 | Seizure | A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. |
| HP:0010892 | Abnormal circulating branched chain amino acid concentration | Any deviation from the normal concentration of a branched chain family amino acid in the blood circulation. |
SFARI (Base de donnée sur l'autisme) :
Score du gène : 1
N'est pas syndromique
Score EAGLE : 3.1
Rapports : 6
pLI : 0.46
LOEUF : 0.84
sHet : 0.017
pHaplo : 0.16
pTriplo : 0.59
Localisation : 30,434,936 - 30,441,351
Localisation : 30,434,936 - 30,441,351
Base de donnée :
DecipherGenomics OMIM:615840 GTEx Portal Human Protein Atlas Ensembl
pLI : 0.03
LOEUF : 0.58
sHet : 0.01
pHaplo : 0.35
pTriplo : 0.5
Localisation : 31,482,906 - 31,489,281
Localisation : 31,482,906 - 31,489,281
Base de donnée :
DecipherGenomics OMIM:602353 GTEx Portal Human Protein Atlas Ensembl
pLI : 0.74
LOEUF : 0.54
sHet : 0.013
pHaplo : 0.4
pTriplo : 0.59
Localisation : 29,827,473 - 29,833,810
Localisation : 29,827,473 - 29,833,810
Base de donnée :
DecipherGenomics OMIM:612033 GTEx Portal Human Protein Atlas Ensembl
pLI : 0
LOEUF : 1.88
sHet : 0.006
pHaplo : 0.17
pTriplo : 0.41
Localisation : 28,544,029 - 28,550,329
Localisation : 28,544,029 - 28,550,329
Base de donnée :
DecipherGenomics OMIM:614812 GTEx Portal Human Protein Atlas Ensembl
pLI : 0
LOEUF : 0.76
sHet : 0.03
pHaplo : 0.19
pTriplo : 0.31
Localisation : 30,075,485 - 30,081,778
Localisation : 30,075,485 - 30,081,778
Maladie : Glycogen storage disease due to aldolase A deficiency
Source : Orphanet
Base de donnée :
DecipherGenomics PanelApp OMIM:103850 Orphanet:57 HGNC:414 GTEx Portal Human Protein Atlas Ensembl
Human Phenotype Ontology Montrer/Cacher
| HP:0003593 | Infantile onset | Onset of signs or symptoms of disease between 28 days to one year of life. |
|---|---|---|
| HP:0003557 | Increased variability in muscle fiber diameter | An abnormally high degree of muscle fiber size variation. This phenotypic feature can be observed upon muscle biopsy. |
| HP:0000952 | Jaundice | Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream. |
| HP:0003555 | Muscle fiber splitting | Fiber splitting or branching is a common finding in human and rat skeletal muscle pathology. Fiber splitting refers to longitudinal halving of the complete fiber, while branching originates from a regenerating end of a necrotic fiber as invaginations of the sarcolemma. In fiber branching, one end of the fiber remains intact as a single entity, while the other end has several branches. |
| HP:0001919 | Acute kidney injury | Sudden loss of renal function, as manifested by decreased urine production, and a rise in serum creatinine or blood urea nitrogen concentration (azotemia). |
| HP:0001270 | Motor delay | A type of Developmental delay characterized by a delay in acquiring motor skills. |
| HP:0003199 | Decreased muscle mass | |
| HP:0020181 | Reduced haptoglobin level | An abnormally low concentration of haptoglobin in the blood circulation. Decreased haptoglobin in conjunction with increased reticulocyte count and anemia may indicate hemolysis. Decreased haptoglobin levels can also occur in the absence of hemolysis, due to cirrhosis of the liver, disseminated ovarian carcinomatosis, pulmonary sarcoidosis, and elevated estrogen state. |
| HP:0001082 | Cholecystitis | The presence of inflammatory changes in the gallbladder. |
| HP:0002162 | Low posterior hairline | Hair on the neck extends more inferiorly than usual. |
| HP:0003198 | Myopathy | A disorder of muscle unrelated to impairment of innervation or neuromuscular junction. |
| HP:0003458 | EMG: myopathic abnormalities | The presence of abnormal electromyographic patterns indicative of myopathy, such as small-short polyphasic motor unit potentials. |
| HP:0011675 | Arrhythmia | Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both. |
| HP:0000750 | Delayed speech and language development | A degree of language development that is significantly below the norm for a child of a specified age. |
| HP:0001903 | Anemia | A reduction in erythrocytes volume or hemoglobin concentration. |
| HP:0009045 | Exercise-induced rhabdomyolysis | Rhabdomyolysis induced by exercise. |
| HP:0000508 | Ptosis | The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective). |
| HP:0001878 | Hemolytic anemia | A type of anemia caused by premature destruction of red blood cells (hemolysis). |
| HP:0000007 | Autosomal recessive inheritance | A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). |
| HP:0002913 | Myoglobinuria | Presence of myoglobin in the urine. |
| HP:0000286 | Epicanthus | A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus. |
| HP:0001510 | Growth delay | A deficiency or slowing down of growth pre- and postnatally. |
| HP:0025435 | Increased circulating lactate dehydrogenase concentration | An elevated level of the enzyme lactate dehydrogenase in the blood circulation. |
| HP:0003558 | Viral infection-induced rhabdomyolysis | Rhabdomyolysis induced by a viral infection. |
| HP:0001945 | Fever | Body temperature elevated above the normal range. |
| HP:0002240 | Hepatomegaly | Abnormally increased size of the liver. |
| HP:0000823 | Delayed puberty | Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty. |
| HP:0031964 | Elevated circulating alanine aminotransferase concentration | An abnormally high concentration in the circulation of alanine aminotransferase (ALT). |
| HP:0003236 | Elevated circulating creatine kinase concentration | An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase (CK; EC 2.7.3.2) in the blood. CK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy. |
| HP:0004322 | Short stature | A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). |
| HP:0008331 | Elevated creatine kinase after exercise | |
| HP:0012545 | Reduced circulating aldolase concentration | Concentration of fructose 1,6-bisphosphate aldolase in the blood circulation below the lower limit of normal. |
| HP:0001324 | Muscle weakness | Reduced strength of muscles. |
| HP:0000470 | Short neck | Diminished length of the neck. |
| HP:0003326 | Myalgia | Pain in muscle. |
| HP:0001744 | Splenomegaly | Abnormal increased size of the spleen. |
| HP:0001249 | Intellectual disability | Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70. |
| HP:0100295 | Muscle fiber atrophy | |
| HP:0001895 | Normochromic anemia | |
| HP:0001930 | Nonspherocytic hemolytic anemia | |
| HP:0001897 | Normocytic anemia | A kind of anemia in which the volume of the red blood cells is normal. |
| HP:0001081 | Cholelithiasis | Hard, pebble-like deposits that form within the gallbladder. |
| HP:0002153 | Hyperkalemia | An abnormally increased potassium concentration in the blood. |
| HP:0001252 | Hypotonia | Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist. |
| HP:0002904 | Hyperbilirubinemia | An increased amount of bilirubin in the blood. |
| HP:0003641 | Hemoglobinuria | The presence of free hemoglobin in the urine. |
| HP:0001328 | Specific learning disability | Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence. |
| HP:0003756 | Skeletal myopathy |
pLI : 0.97
LOEUF : 0.32
sHet : 0.07
pHaplo : 0.24
pTriplo : 0.73
Localisation : 30,194,148 - 30,200,397
Localisation : 30,194,148 - 30,200,397
Maladie : Severe combined immunodeficiency due to CORO1A deficiency
Source : Orphanet
Base de donnée :
DecipherGenomics PanelApp OMIM:605000 Orphanet:228003 HGNC:2252 PMID:23522482 GTEx Portal Human Protein Atlas Ensembl
Human Phenotype Ontology Montrer/Cacher
| HP:0003593 | Infantile onset | Onset of signs or symptoms of disease between 28 days to one year of life. |
|---|---|---|
| HP:0002020 | Gastroesophageal reflux | A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter. |
| HP:0007018 | Attention deficit hyperactivity disorder | Attention deficit hyperactivity disorder (ADHD) manifests at age 2-3 years or by first grade at the latest. The main symptoms are distractibility, impulsivity, hyperactivity, and often trouble organizing tasks and projects, difficulty going to sleep, and social problems from being aggressive, loud, or impatient. |
| HP:0009098 | Chronic oral candidiasis | Chronic accumulation and overgrowth of the fungus Candida albicans on the mucous membranes of the mouth, generally manifested as associated with creamy white lesions on the tongue or inner cheeks, occasionally spreading to the gums, tonsils, palate or oropharynx. |
| HP:0410300 | Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vaccine | The inability to synthesize postvaccination antibodies against a pneumococcus antigen, as measured by antibody titer determination following vaccination. |
| HP:0000403 | Recurrent otitis media | Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media. |
| HP:0001888 | Lymphopenia | A reduced number of lymphocytes in the blood. |
| HP:0002783 | Recurrent lower respiratory tract infections | An increased susceptibility to lower respiratory tract infections as manifested by a history of recurrent lower respiratory tract infections. |
| HP:0410295 | Complete or near-complete absence of specific antibody response to tetanus vaccine | The inability to synthesize postvaccination antibodies against a tetanus antigen, as measured by antibody titer determination following vaccination. |
| HP:4000166 | Post-vaccination varicella zoster virus infection | Infection with live, attenuated varicella-zoster virus following vaccination. This is an extreemely rare event that may indicate immunocompromise. |
| HP:0002788 | Recurrent upper respiratory tract infections | An increased susceptibility to upper respiratory tract infections as manifested by a history of recurrent upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis). |
| HP:0001263 | Global developmental delay | A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age. |
| HP:0000007 | Autosomal recessive inheritance | A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). |
| HP:0002721 | Immunodeficiency | Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance. |
SFARI (Base de donnée sur l'autisme) :
Score du gène : 1
N'est pas syndromique
Score EAGLE : 0.7
Rapports : 2
pLI : 0
LOEUF : 1.36
sHet : 0.004
pHaplo : 0.22
pTriplo : 0.66
Localisation : 31,094,758 - 31,100,949
Localisation : 31,094,758 - 31,100,949
Base de donnée :
DecipherGenomics OMIM:610561 GTEx Portal Human Protein Atlas Ensembl
pLI : 0.01
LOEUF : 0.69
sHet : 0.01
pHaplo : 0.14
pTriplo : 0.57
Localisation : 30,097,114 - 30,103,245
Localisation : 30,097,114 - 30,103,245
Maladie : Autosomal dominant spondylocostal dysostosis
Source : Orphanet
Base de donnée :
DecipherGenomics PanelApp OMIM:602427 Orphanet:1797 HGNC:11605 PMID:23335591 GTEx Portal Human Protein Atlas Ensembl
Human Phenotype Ontology Montrer/Cacher
| HP:0005815 | Supernumerary ribs | The presence of more than 12 rib pairs. |
|---|---|---|
| HP:0003298 | Spina bifida occulta | The closed form of spina bifida with incomplete closure of a vertebral body with intact overlying skin. |
| HP:0010306 | Short thorax | Reduced inferior to superior extent of the thorax. |
| HP:0003422 | Vertebral segmentation defect | An abnormality related to a defect of vertebral separation during development. |
| HP:0002205 | Recurrent respiratory infections | An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections. |
| HP:0000175 | Cleft palate | Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate). |
| HP:0000269 | Prominent occiput | Increased convexity of the occiput (posterior part of the skull). |
| HP:0000256 | Macrocephaly | Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium. |
| HP:0003577 | Congenital onset | A phenotypic abnormality that is present at birth. |
| HP:0000913 | Posterior rib fusion | Complete or partial merging of the posterior part of adjacent ribs. |
| HP:0000252 | Microcephaly | Head circumference below 2 standard deviations below the mean for age and gender. |
| HP:0000007 | Autosomal recessive inheritance | A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). |
| HP:0000431 | Wide nasal bridge | Increased breadth of the nasal bridge (and with it, the nasal root). |
| HP:0000921 | Missing ribs | A developmental anomaly with absence of one or more ribs. |
| HP:0001511 | Intrauterine growth retardation | An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age. |
| HP:0003510 | Severe short stature | A severe degree of short stature, more than -4 SD from the mean corrected for age and sex. |
| HP:0003521 | Disproportionate short-trunk short stature | A type of disproportionate short stature characterized by a short trunk but a average-sized limbs. |
| HP:0003316 | Butterfly vertebrae | A butterfly vertebra (sagittal cleft vertebra or anterior rachischisis) is a sagittal defect in the vertebral body caused by failure of fusion of the two lateral chondrification centers during embryogenesis. The name is based on the appearance of the two hemivertebrae emerging as butterfly wings from the central cleft on x-ray. |
| HP:0000470 | Short neck | Diminished length of the neck. |
| HP:0002948 | Vertebral fusion | A developmental defect leading to the union of two adjacent vertebrae. |
| HP:0002937 | Hemivertebrae | Absence of one half of the vertebral body. |
| HP:0003307 | Hyperlordosis | Abnormally increased curvature (anterior concavity) of the lumbar or cervical spine. |
| HP:0000463 | Anteverted nares | Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip). |
| HP:0000006 | Autosomal dominant inheritance | A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. |
| HP:0000008 | Abnormal morphology of female internal genitalia | An abnormality of the female internal genitalia. |
| HP:0002650 | Scoliosis | The presence of an abnormal lateral curvature of the spine. |
| HP:0005107 | Abnormal sacrum morphology | An abnormality of the sacral bone. |
| HP:0000582 | Upslanted palpebral fissure | The palpebral fissure inclination is more than two standard deviations above the mean for age (objective); or, the inclination of the palpebral fissure is greater than typical for age. |
| HP:0030680 | Abnormal cardiovascular system morphology | Any structural anomaly of the heart and great vessels. |
| HP:0003396 | Syringomyelia | Dilated, glial-lined cavity in spinal cord. This cavity does not communicate with the central canal, and usually is between the dorsal columns unilaterally or bilaterally along the side of the cord. |
| HP:0003419 | Low back pain | An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the lower back. |
| HP:0000768 | Pectus carinatum | A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum. |
| HP:0000772 | Abnormal rib morphology | An anomaly of the rib. |
pLI : 0.02
LOEUF : 0.67
sHet : 0.042
pHaplo : 0.17
pTriplo : 0.43
Localisation : 28,996,147 - 29,002,105
Localisation : 28,996,147 - 29,002,105
Maladie : Severe combined immunodeficiency due to LAT deficiency
Source : Orphanet
Base de donnée :
DecipherGenomics PanelApp OMIM:602354 Orphanet:504523 HGNC:18874 PMID:27522155 GTEx Portal Human Protein Atlas Ensembl
Human Phenotype Ontology Montrer/Cacher
| HP:0011968 | Feeding difficulties | Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it. |
|---|---|---|
| HP:0002395 | Lower limb hyperreflexia | |
| HP:0025335 | Delayed ability to stand | A failure to achieve the ability to stand up at an appropriate developmental stage. Most children begin to walk alone at 11 to 15 months of age. On average, children can stand while holding on at the age of 9 to 10 months, can pull up to stand and walk with one hand being held at 12 months, and can stand alone and walk well at 18 months. |
| HP:0031936 | Delayed ability to walk | A failure to achieve the ability to walk at an appropriate developmental stage. Most children learn to walk in a series of stages, and learn to walk short distances independently between 12 and 15 months. |
| HP:0025331 | Upgaze palsy | A limitation of the ability to direct one's gaze above the horizontal meridian. |
| HP:0002454 | Eye of the tiger anomaly of globus pallidus | The presence, on T2-weighted magnetic resonance imaging, of markedly low signal intensity of the globus pallidus that surrounds a central region of high signal intensity in the anteromedial globus pallidus, producing an eye-of-the-tiger appearance. The sign is thought to represent iron accumulation in the globus pallidus. |
| HP:0000739 | Anxiety | Intense feelings of nervousness, tension, or panic often arise in response to interpersonal stresses. There is worry about the negative effects of past unpleasant experiences and future negative possibilities. Individuals may feel fearful, apprehensive, or threatened by uncertainty, and they may also have fears of falling apart or losing control. |
| HP:0007994 | Peripheral visual field loss | Loss of peripheral vision with retention of central vision, resulting in a constricted circular tunnel-like field of vision. |
| HP:0000657 | Oculomotor apraxia | Ocular motor apraxia is a deficiency in voluntary, horizontal, lateral, fast eye movements (saccades) with retention of slow pursuit movements. The inability to follow objects visually is often compensated by head movements. There may be decreased smooth pursuit, and cancellation of the vestibulo-ocular reflex. |
| HP:0001288 | Gait disturbance | The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease. |
| HP:0000708 | Atypical behavior | Atypical behavior is an abnormality in a person's actions, which can be controlled or modulated by the will of the individual. While abnormal behaviors can be difficult to control, they are distinct from other abnormal actions that cannot be affected by the individual's will. |
| HP:0005656 | Positional foot deformity | A foot deformity resulting due to an abnormality affecting the muscle and soft tissue. In contrast if the bones of the foot are affected the term structural foot deformity applies. |
| HP:0020045 | Esodeviation | A manifest or latent ocular deviation in which one or both eyes tends to deviate nasally. |
| HP:0001348 | Brisk reflexes | Tendon reflexes that are noticeably more active than usual (conventionally denoted 3+ on clinical examination). Brisk reflexes may or may not indicate a neurological lesion. They are distinguished from hyperreflexia by the fact that hyerreflexia is characterized by hyperactive repeating (clonic) reflexes, which are considered to be always abnormal. |
| HP:0002928 | Decreased activity of the pyruvate dehydrogenase complex | |
| HP:0000508 | Ptosis | The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective). |
| HP:0002136 | Broad-based gait | An abnormal gait pattern in which persons stand and walk with their feet spaced widely apart. This is often a component of cerebellar ataxia. |
| HP:0000252 | Microcephaly | Head circumference below 2 standard deviations below the mean for age and gender. |
| HP:0000007 | Autosomal recessive inheritance | A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). |
| HP:0001266 | Choreoathetosis | Involuntary movements characterized by both athetosis (inability to sustain muscles in a fixed position) and chorea (widespread jerky arrhythmic movements). |
| HP:0001319 | Neonatal hypotonia | Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period. |
| HP:0002194 | Delayed gross motor development | A type of motor delay characterized by a delay in acquiring the ability to control the large muscles of the body for walking, running, sitting, and crawling. |
| HP:0012379 | Abnormal circulating enzyme concentration or activity | Concentration or activity of an enzyme is above or below the limits of normal in the blood circulation. |
| HP:0003487 | Babinski sign | Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract. |
| HP:0002465 | Poor speech | |
| HP:0001251 | Ataxia | Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly). |
| HP:0031960 | Arm dystonia | A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the arms. |
| HP:0500231 | Abnormal CSF pyruvate family amino acid concentration | Any deviation from the normal concentration of pyruvate-family amino acids in the cerebrospinal fluid. |
| HP:0002307 | Drooling | Habitual flow of saliva out of the mouth. |
| HP:0000639 | Nystagmus | Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms. |
| HP:0000707 | Abnormality of the nervous system | An abnormality of the nervous system. |
| HP:0012043 | Pendular nystagmus | Rhythmic, involuntary sinusoidal oscillations of one or both eyes. The waveform of pendular nystagmus may occur in any direction. |
| HP:0003128 | Lactic acidosis | An abnormal buildup of lactic acid in the body, leading to acidification of the blood and other bodily fluids. |
| HP:0002180 | Neurodegeneration | Progressive loss of neural cells and tissue. |
| HP:0001252 | Hypotonia | Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist. |
| HP:0100503 | Low levels of vitamin B1 | A reduced concentration of vitamin B1. |
| HP:0010864 | Intellectual disability, severe | Severe mental retardation is defined as an intelligence quotient (IQ) in the range of 20-34. |
| HP:0000726 | Dementia | A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior. |
| HP:0003593 | Infantile onset | Onset of signs or symptoms of disease between 28 days to one year of life. |
| HP:0001270 | Motor delay | A type of Developmental delay characterized by a delay in acquiring motor skills. |
| HP:0001260 | Dysarthria | Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed. |
| HP:0002355 | Difficulty walking | Reduced ability to walk (ambulate). |
| HP:0002268 | Paroxysmal dystonia | A form of dystonia characterized by episodes of dystonia (often hemidystonia or generalized) lasting from minutes to hours. There are no dystonic symptoms between episodes. |
| HP:0001263 | Global developmental delay | A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age. |
| HP:0011098 | Speech apraxia | A type of apraxia that is characterized by difficulty or inability to execute speech movements because of problems with coordination and motor problems, leading to incorrect articulation. An increase of errors with increasing word and phrase length may occur. |
| HP:0000496 | Abnormality of eye movement | An abnormality in voluntary or involuntary eye movements or their control. |
| HP:0032988 | Persistent head lag | The Premie-Neuro and the Dubowitz Neurological Examination score head lag in the same manner. Scoring for both is as follows: 0 = head drops and stays back, 1 = tries to lift head but drops it back, 2 = able to lift head slightly, 3 = lifts head in line with body, and 4 = head in front of body. This term applies if head lag persists beyond an expected age at a level of 0 or 1. Persistent head lag beyond age 4 mo has been linked to poor outcomes. |
| HP:0000486 | Strabismus | A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error. |
| HP:0004302 | Functional motor deficit | |
| HP:0007325 | Generalized dystonia | A type of dystonia that affects all or most of the body. |
| HP:0000546 | Retinal degeneration | A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells. |
| HP:0001332 | Dystonia | An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk. |
| HP:0006961 | Jerky head movements | |
| HP:0001256 | Intellectual disability, mild | Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69. |
| HP:0001276 | Hypertonia | A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move. |
| HP:0031139 | Frog-leg posture | A type of rest posture in an infant that indicated a generalized reduction in muscle tone. The hips are flexed and the legs are abducted to an extent that causes the lateral thigh to rest upon the supporting surface. This posture is said to resemble the legs of a frog. |
| HP:0001347 | Hyperreflexia | Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles. |
pLI : 0.17
LOEUF : 0.47
sHet : 0.067
pHaplo : 0.19
pTriplo : 0.73
Localisation : 30,662,038 - 30,667,734
Localisation : 30,662,038 - 30,667,734
Base de donnée :
DecipherGenomics OMIM:617423 GTEx Portal Human Protein Atlas Ensembl
pLI : 0.16
LOEUF : 1.02
sHet : 0.012
pHaplo : 0.12
pTriplo : 0.74
Localisation : 31,102,163 - 31,107,301
Localisation : 31,102,163 - 31,107,301
Maladie : Hereditary combined deficiency of vitamin K-dependent clotting factors
Source : Orphanet
Base de donnée :
DecipherGenomics PanelApp OMIM:608547 Orphanet:98434 HGNC:23663 PMID:14765194 GTEx Portal Human Protein Atlas Ensembl
Human Phenotype Ontology Montrer/Cacher
| HP:0001871 | Abnormality of blood and blood-forming tissues | An abnormality of the hematopoietic system. |
|---|---|---|
| HP:0011858 | Reduced factor IX activity | Decreased activity of coagulation factor IX. Factor IX, which itself is activated by factor Xa or factor VIIa to form factor IXa, activates factor X into factor Xa. |
| HP:0040250 | Reduced prothrombin antigen | Reduced prothrombin antigen as measured by ELISA assay. Prothrombin is a vitamin K-dependent coagulation factor that is proteolytically cleaved to form thrombin. |
| HP:0000007 | Autosomal recessive inheritance | A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). |
| HP:0000006 | Autosomal dominant inheritance | A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. |
| HP:0008321 | Reduced factor X activity | Reduced activity of coagulation factor X. The extrinsic and intrinsic pathways converge at factor X (fX). The extrinsic pathway activates fX by means of d factor VII with its cofactor, tissue factor. The intrinsic pathway activates fX by means of the tenase complex (Ca2+ and factors VIIIa, IXa and X) on the surface of activated platelets. Factor Xa in turn activates prothrombin (factor II) to thrombin (factor IIa). |
| HP:0001892 | Abnormal bleeding | An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects. |
| HP:0008169 | Reduced factor VII activity | Reduced activity of coagulation factor VII. Factor VII is part of the extrinsic coagulation pathway, which is initiated at the site of injury in response to the release of tissue factor (fIII). Tissue factor and activated factor VII catalyze the activation of factor X. |
pLI : 0
LOEUF : 1.58
sHet : 0.006
pHaplo : 0.16
pTriplo : 0.32
Localisation : 28,603,264 - 28,608,371
Localisation : 28,603,264 - 28,608,371
Base de donnée :
DecipherGenomics OMIM:601292 GTEx Portal Human Protein Atlas Ensembl
pLI : 0.36
LOEUF : 1.79
pHaplo : 0.14
pTriplo : 0.53
Localisation : 30,210,549 - 30,215,631
Localisation : 30,210,549 - 30,215,631
Base de donnée :
DecipherGenomics OMIM:600641 GTEx Portal Human Protein Atlas Ensembl
pLI : 0.93
LOEUF : 0.37
sHet : 0.16
pHaplo : 0.61
pTriplo : 0.84
Localisation : 29,817,427 - 29,822,485
Localisation : 29,817,427 - 29,822,485
Base de donnée :
DecipherGenomics OMIM:600999 GTEx Portal Human Protein Atlas Ensembl
pLI : 0.13
LOEUF : 0.79
sHet : 0.034
pHaplo : 0.04
pTriplo : 0.5
Localisation : 29,869,678 - 29,874,735
Localisation : 29,869,678 - 29,874,735
Base de donnée :
DecipherGenomics OMIM:605893 GTEx Portal Human Protein Atlas Ensembl
pLI : 0.38
LOEUF : 1.74
pHaplo : 0.12
pTriplo : 0.59
Localisation : 29,471,234 - 29,476,287
Localisation : 29,471,234 - 29,476,287
Base de donnée :
DecipherGenomics OMIM:615819 GTEx Portal Human Protein Atlas Ensembl
pLI : 0
LOEUF : 1.18
Localisation : 30,768,744 - 30,773,542
Localisation : 30,768,744 - 30,773,542
Base de donnée :
DecipherGenomics OMIM:618318 GTEx Portal Human Protein Atlas Ensembl
pLI : 0.62
LOEUF : 0.65
pHaplo : 0.29
pTriplo : 0.59
Localisation : 29,789,577 - 29,794,294
Localisation : 29,789,577 - 29,794,294
Base de donnée :
DecipherGenomics OMIM:617311 GTEx Portal Human Protein Atlas Ensembl
pLI : 0
LOEUF : 1.17
pHaplo : 0.1
pTriplo : 0.64
Localisation : 30,565,085 - 30,569,695
Localisation : 30,565,085 - 30,569,695
Base de donnée :
DecipherGenomics OMIM:619524 GTEx Portal Human Protein Atlas Ensembl
pLI : 0.04
LOEUF : 1.15
sHet : 0.026
pHaplo : 0.14
pTriplo : 0.57
Localisation : 30,103,635 - 30,108,236
Localisation : 30,103,635 - 30,108,236
Base de donnée :
DecipherGenomics OMIM:609724 GTEx Portal Human Protein Atlas Ensembl
pLI : 0.03
LOEUF : 1.26
sHet : 0.013
pHaplo : 0.14
pTriplo : 0.2
Localisation : 30,034,519 - 30,039,057
Localisation : 30,034,519 - 30,039,057
Base de donnée :
DecipherGenomics OMIM:618911 GTEx Portal Human Protein Atlas Ensembl
pLI : 0
LOEUF : 1.04
sHet : 0.009
pHaplo : 0.09
pTriplo : 0.47
Localisation : 30,362,094 - 30,366,629
Localisation : 30,362,094 - 30,366,629
Base de donnée :
DecipherGenomics OMIM:604470 GTEx Portal Human Protein Atlas Ensembl
pLI : 0.59
LOEUF : 0.56
sHet : 0.152
pHaplo : 0.39
pTriplo : 0.39
Localisation : 29,822,703 - 29,827,213
Localisation : 29,822,703 - 29,827,213
Maladie : Paroxysmal exertion-induced dyskinesia
Source : Orphanet
Base de donnée :
DecipherGenomics PanelApp OMIM:614386 Orphanet:98811 HGNC:30500 PMID:22902309 PMID:22209761 PMID:23398397 GTEx Portal Human Protein Atlas Ensembl
Human Phenotype Ontology Montrer/Cacher
| HP:0012469 | Infantile spasms | Infantile spasms represent a subset of "epileptic spasms". Infantile Spasms are epileptic spasms starting in the first year of life (infancy). |
|---|---|---|
| HP:0001304 | Torsion dystonia | Sustained involuntary muscle contractions that produce twisting and repetitive movements of the body. |
| HP:0032044 | Decreased vigilance | A decrease in the ability to maintain sustained attention is characterized by reduced alertness. |
| HP:0002321 | Vertigo | An abnormal sensation of spinning while the body is actually stationary. |
| HP:0003621 | Juvenile onset | Onset of signs or symptoms of disease between the age of 5 and 15 years. |
| HP:0011468 | Facial tics | Sudden, repetitive, nonrhythmic motor movements (spasms), involving the eyes and muscles of the face. |
| HP:0002181 | Cerebral edema | Abnormal accumulation of fluid in the brain. |
| HP:0007166 | Paroxysmal dyskinesia | Episodic bouts of involuntary movements with dystonic, choreic, ballistic movements, or a combination thereof. There is no loss of consciousness during the attacks. |
| HP:0002133 | Status epilepticus | Status epilepticus is a type of prolonged seizure resulting either from the failure of the mechanisms responsible for seizure termination or from the initiation of mechanisms which lead to abnormally prolonged seizures (after time point t1). It is a condition that can have long-term consequences (after time point t2), including neuronal death, neuronal injury, and alteration of neuronal networks, depending on the type and duration of seizures. |
| HP:0008959 | Distal upper limb muscle weakness | Reduced strength of the distal musculature of the arms. |
| HP:0011169 | Generalized clonic seizure | Generalized clonic seizure is a type of generalized motor seizure characterised by sustained bilateral jerking, either symmetric or asymmetric, that is regularly repetitive and involves the same muscle groups. |
| HP:0001308 | Tongue fasciculations | Fasciculations or fibrillation affecting the tongue muscle. |
| HP:0000006 | Autosomal dominant inheritance | A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. |
| HP:0002381 | Aphasia | An acquired language impairment of some or all of the abilities to produce or comprehend speech and to read or write. |
| HP:0011171 | Simple febrile seizure | A short generalized seizure, of a duration of <15 min, not recurring within 24 h, occurring during a febrile episode not caused by an acute disease of the nervous system intracranial infection or severe metabolic disturbance. |
| HP:0010835 | Dissociated sensory loss | A pattern of sensory loss with selective loss of touch sensation and proprioception without loss of pain and temperature, or vice-versa. |
| HP:0002353 | EEG abnormality | Abnormality observed by electroencephalogram (EEG), which is used to record of the brain's spontaneous electrical activity from multiple electrodes placed on the scalp. |
| HP:0025708 | Early young adult onset | Onset of disease at an age of greater than or equal to 16 to under 19 years. |
| HP:0012229 | CSF pleocytosis | An increased white blood cell count in the cerebrospinal fluid. |
| HP:0001289 | Confusion | Lack of clarity and coherence of thought, perception, understanding, or action. |
| HP:0002197 | Generalized-onset seizure | A generalized-onset seizure is a type of seizure originating at some point within, and rapidly engaging, bilaterally distributed networks. The networks may include cortical and subcortical structures but not necessarily the entire cortex. |
| HP:0000718 | Aggressive behavior | Behavior or an act aimed at harming a person, animal, or physical property (e.g., acts of physical violence; shouting, swearing, and using harsh language; slashing someone's tires). |
| HP:0001260 | Dysarthria | Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed. |
| HP:0007240 | Progressive gait ataxia | A type of gait ataxia displaying progression of clinical severity. |
| HP:0012508 | Metamorphopsia | A visual anomaly in which images appear distorted. A grid of straight lines appears wavy and parts of the grid may appear blank. |
| HP:0002372 | Normal interictal EEG | Lack of observable abnormal electroencephalographic (EEG) patterns in an individual with a history of seizures. About half of individuals with epilepsy show interictal epileptiform discharges upon the first investigation. The yield can be increased by repeated studies, sleep studies, or by ambulatory EEG recordings over 24 hours. Normal interictal EEG is a sign that can be useful in the differential diagnosis. |
| HP:0030786 | Photopsia | Perceived flashes of light. |
| HP:0011153 | Focal motor seizure | A type of focal-onset seizure characterized by a motor sign as its initial semiological manifestation. |
| HP:0011196 | EEG with focal sharp waves | EEG with focal sharp transient waves of a duration between 80 and 200 msec. |
| HP:0002268 | Paroxysmal dystonia | A form of dystonia characterized by episodes of dystonia (often hemidystonia or generalized) lasting from minutes to hours. There are no dystonic symptoms between episodes. |
| HP:0003401 | Paresthesia | Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause. |
| HP:0000651 | Diplopia | Diplopia is a condition in which a single object is perceived as two images, it is also known as double vision. |
| HP:0025401 | Staring gaze | An abnormality in which the eyes are held permanently wide open. |
| HP:0002384 | Focal impaired awareness seizure | Focal impaired awareness seizure (or focal seizure with impaired or lost awareness) is a type of focal-onset seizure characterized by some degree (which may be partial) of impairment of the person's awareness of themselves or their surroundings at any point during the seizure. |
| HP:0012044 | Seesaw nystagmus | Seesaw nystagmus is a type of pendular nystagmus where a half cycle consists of the elevation and intorsion of one eye, concurrently with the depression and extortion of the fellow eye. In the other half cycle, there is an inversion of the ocular movements. |
| HP:0002361 | Psychomotor deterioration | Loss of previously present mental and motor abilities. |
| HP:0011182 | Interictal epileptiform activity | Epileptiform activity refers to distinctive EEG waves or complexes distinguished from background activity found in in a proportion of human subjects with epilepsy, but which can also be found in subjects without seizures. Interictal epileptiform activity refers to such activity that occurs in the absence of a clinical or subclinical seizure. |
| HP:0002266 | Focal clonic seizure | A focal clonic seizure is a type of focal motor seizure characterized by sustained rhythmic jerking, that is regularly repetitive. |
| HP:0032506 | Alien limb phenomenon | Alien limb phenomenon refers to involuntary motor activity of a limb in conjunction with the feeling of estrangement from that limb. |
| HP:0001324 | Muscle weakness | Reduced strength of muscles. |
| HP:0003392 | First dorsal interossei muscle weakness | |
| HP:0010833 | Spontaneous pain sensation | Spontaneous pain is a kind of neuropathic pain which occurs without an identifiable trigger. |
| HP:0000360 | Tinnitus | Tinnitus is an auditory perception that can be described as the experience of sound, in the ear or in the head, in the absence of external acoustic stimulation. |
| HP:0010544 | Vertical nystagmus | Vertical nystagmus may present with either up-beating or down-beating eye movements or both. When present in the straight-ahead position of gaze it is referred to as upbeat nystagmus or downbeat nystagmus. |
| HP:0002076 | Migraine | Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associated symptoms. |
| HP:0010829 | Impaired temperature sensation | A reduced ability to discriminate between different temperatures. |
| HP:0001276 | Hypertonia | A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move. |
| HP:0003829 | Typified by incomplete penetrance | Description of conditions in which not all individuals with a given genotype exhibit the disease. Penetrance is the proportion that develop disease given a lifespan of 80 years. |
| HP:0045084 | Limb myoclonus | |
| HP:0011167 | Focal tonic seizure | A type of focal motor seizure characterized by sustained increase in muscle contraction, lasting a few seconds to minutes. |
| HP:0001250 | Seizure | A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. |
| HP:0001259 | Coma | The complete absence of wakefulness and consciousness, which is evident through a lack of response to any form of external stimuli. |
| HP:0002922 | Increased CSF protein concentration | Increased concentration of protein in the cerebrospinal fluid. |
| HP:0002356 | Writer's cramp | A focal dystonia of the fingers, hand, and/or forearm that appears when the affected person attempts to do a task that requires fine motor movements such as writing or playing a musical instrument. |
| HP:0002061 | Lower limb spasticity | Spasticity (velocity-dependent increase in tonic stretch reflexes with increased muscle tone and hyperexcitable tendon reflexes) in the muscles of the lower limbs, hips, and pelvis |
| HP:0004305 | Involuntary movements | Involuntary contractions of muscle leading to involuntary movements of extremities, neck, trunk, or face. |
| HP:0002310 | Orofacial dyskinesia | |
| HP:0100576 | Amaurosis fugax | A transient visual disturbance that is typically caused by a circulatory, ocular or neurological underlying condition. |
| HP:0002072 | Chorea | Chorea (Greek for 'dance') refers to widespread arrhythmic involuntary movements of a forcible, jerky and restless fashion. It is a random-appearing sequence of one or more discrete involuntary movements or movement fragments. Movements appear random because of variability in timing, duration or location. Each movement may have a distinct start and end. However, movements may be strung together and thus may appear to flow randomly from one muscle group to another. Chorea can involve the trunk, neck, face, tongue, and extremities. |
| HP:0002094 | Dyspnea | Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale. |
| HP:0007979 | Gaze-evoked horizontal nystagmus | Horizontal nystagmus made apparent by looking to the right or to the left. |
| HP:0000365 | Hearing impairment | A decreased magnitude of the sensory perception of sound. |
| HP:0001266 | Choreoathetosis | Involuntary movements characterized by both athetosis (inability to sustain muscles in a fixed position) and chorea (widespread jerky arrhythmic movements). |
| HP:0012759 | Neurodevelopmental abnormality | A deviation from normal of the neurological development of a child, which may include any or all of the aspects of the development of personal, social, gross or fine motor, and cognitive abilities. |
| HP:0000961 | Cyanosis | Bluish discoloration of the skin and mucosa due to poor circulation or inadequate oxygenation of arterial or capillary blood. |
| HP:0000473 | Torticollis | Involuntary contractions of the neck musculature resulting in an abnormal posture of or abnormal movements of the head. |
| HP:0001251 | Ataxia | Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly). |
| HP:0001387 | Joint stiffness | Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time. |
| HP:0001272 | Cerebellar atrophy | Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa with normal size, which displays enlarged fissures (interfolial spaces) in comparison to the foliae secondary to loss of tissue. Cerebellar atrophy implies irreversible loss of tissue and result from an ongoing progressive disease until a final stage is reached or a single injury, e.g. an intoxication or infectious event. |
| HP:0002172 | Postural instability | A tendency to fall or the inability to keep oneself from falling; imbalance. The retropulsion test is widely regarded as the gold standard to evaluate postural instability, Use of the retropulsion test includes a rapid balance perturbation in the backward direction, and the number of balance correcting steps (or total absence thereof) is used to rate the degree of postural instability. Healthy subjects correct such perturbations with either one or two large steps, or without taking any steps, hinging rapidly at the hips while swinging the arms forward as a counterweight. In patients with balance impairment, balance correcting steps are often too small, forcing patients to take more than two steps. Taking three or more steps is generally considered to be abnormal, and taking more than five steps is regarded as being clearly abnormal. Markedly affected patients continue to step backward without ever regaining their balance and must be caught by the examiner (this would be called true retropulsion). Even more severely affected patients fail to correct entirely, and fall backward like a pushed toy soldier, without taking any corrective steps. |
| HP:0002077 | Migraine with aura | A type of migraine in which there is an aura characterized by focal neurological phenomena that usually proceed, but may accompany or occur in the absence of, the headache. The symptoms of an aura may include fully reversible visual, sensory, and speech symptoms but not motor weakness. Visual symptoms may include flickering lights, spots and lines and/or loss of vision and/or unilateral sensory symptoms such as paresthesias or numbness. At least one of the symptoms of an aura develops gradually over 5 or more minutes and/or different symptoms occur in succession. |
| HP:0001249 | Intellectual disability | Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70. |
| HP:0410263 | Brain imaging abnormality | An anomaly of metabolism or structure of the brain identified by imaging. |
| HP:0001328 | Specific learning disability | Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence. |
| HP:0100660 | Dyskinesia | A movement disorder which consists of effects including diminished voluntary movements and the presence of involuntary movements. |
| HP:0007209 | Facial paralysis | Complete loss of ability to move facial muscles innervated by the facial nerve (i.e., the seventh cranial nerve). |
| HP:0003593 | Infantile onset | Onset of signs or symptoms of disease between 28 days to one year of life. |
| HP:0002104 | Apnea | Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event. |
| HP:0007359 | Focal-onset seizure | A focal-onset seizure is a type of seizure originating within networks limited to one hemisphere. They may be discretely localized or more widely distributed, and may originate in subcortical structures. |
| HP:0011157 | Focal sensory seizure | A focal sensory seizure is a type seizure beginning with a subjective sensation. |
| HP:0007334 | Bilateral tonic-clonic seizure with focal onset | A bilateral tonic-clonic seizure with focal onset is a focal-onset seizure which progresses into a bilateral tonic-clonic phase. |
| HP:0006801 | Hyperactive deep tendon reflexes | |
| HP:0002305 | Athetosis | A slow, continuous, involuntary writhing movement that prevents maintenance of a stable posture. Athetosis involves continuous smooth movements that appear random and are not composed of recognizable sub-movements or movement fragments. In contrast to chorea, in athetosis, the same regions of the body are repeatedly involved. Athetosis may worsen with attempts at movement of posture, but athetosis can also occur at rest. |
| HP:0011172 | Complex febrile seizure | A febrile seizure that has any of the following features: focal semiology (or associated with post-ictal neurologic abnormalities beyond drowsiness, such as a Todd's paresis), prolonged seizure beyond 15 minutes, or recurring (occurring more than once) in a 24 hour period. |
| HP:0000575 | Scotoma | A regional and pathological increase of the light detection threshold in any region of the visual field surrounded by a field of normal or relatively well-preserved vision. |
| HP:0002301 | Hemiplegia | Paralysis (complete loss of muscle function) in the arm, leg, and in some cases the face on one side of the body. |
| HP:0002487 | Hyperkinetic movements | Motor hyperactivity with excessive movement of muscles of the body as a whole. |
| HP:0200149 | CSF lymphocytic pleiocytosis | An increased lymphocyte count in the cerebrospinal fluid. |
| HP:0003324 | Generalized muscle weakness | Generalized weakness or decreased strength of the muscles, affecting both distal and proximal musculature. |
| HP:0002121 | Generalized non-motor (absence) seizure | A generalized non-motor (absence) seizure is a type of a type of dialeptic seizure that is of electrographically generalized onset. It is a generalized seizure characterised by an interruption of activities, a blank stare, and usually the person will be unresponsive when spoken to. Any ictal motor phenomena are minor in comparison to these non-motor features. |
| HP:0031179 | Nuchal rigidity | Resistance of the extensor muscles of the neck to being bent forwards (i.e., impaired neck flexion) as a result of muscle spasm of the extensor muscles of the neck. Nuchal rigidity is not a fixed rigidity. Nuchal rigidity has been used as a bedside test for meningism, although its sensitivity for this purpose has been debated. |
| HP:0010818 | Generalized tonic seizure | A generalized tonic seizure is a type of generalized motor seizure characterised by bilateral limb stiffening or elevation, often with neck stiffening without a subsequent clonic phase. The tonic activity can be a sustained abnormal posture, either in extension or flexion, sometimes accompanied by tremor of the extremities. |
| HP:0001269 | Hemiparesis | Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a complete loss of strength, whereas hemiparesis refers to an incomplete loss of strength. |
| HP:0012002 | Experiential epileptic aura | Affective, mnemonic or composite perceptual auras with subjective qualities similar to those experienced in life but are recognized by the subject as occurring outside of actual context. |
| HP:0002069 | Bilateral tonic-clonic seizure | A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase. |
| HP:0007098 | Paroxysmal choreoathetosis | Episodes of choreoathetosis that can occur following triggers such as quick voluntary movements. |
| HP:0002063 | Rigidity | Continuous involuntary sustained muscle contraction. When an affected muscle is passively stretched, the degree of resistance remains constant regardless of the rate at which the muscle is stretched. This feature helps to distinguish rigidity from muscle spasticity. |
| HP:0000211 | Trismus | Limitation in the ability to open the mouth. |
| HP:0002167 | Abnormality of speech or vocalization | Abnormalities in the sound of a person's speech or vocalization are not necessarily associated with a known physical cause or due to stuttering or stammering. |
| HP:0011199 | EEG with generalized sharp slow waves | EEG with generalized sharp transient waves of a duration between 80 and 200 msec followed by a slow wave. |
| HP:0001332 | Dystonia | An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk. |
| HP:0001256 | Intellectual disability, mild | Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69. |
| HP:0000737 | Irritability | A proneness to anger, i.e., a tendency to become easily bothered or annoyed. |
pLI : 0
LOEUF : 0.77
sHet : 0.049
pHaplo : 0.24
pTriplo : 0.23
Localisation : 28,505,964 - 28,510,285
Localisation : 28,505,964 - 28,510,285
Base de donnée :
DecipherGenomics OMIM:605220 GTEx Portal Human Protein Atlas Ensembl
pLI : 0.1
LOEUF : 0.69
sHet : 0.042
pHaplo : 0.39
pTriplo : 0.45
Localisation : 31,142,754 - 31,147,048
Localisation : 31,142,754 - 31,147,048
Base de donnée :
DecipherGenomics OMIM:600823 GTEx Portal Human Protein Atlas Ensembl
pLI : 0
LOEUF : 1.33
sHet : 0.006
pHaplo : 0.17
pTriplo : 0.67
Localisation : 30,996,528 - 31,000,468
Localisation : 30,996,528 - 31,000,468
Maladie : Congenital bile acid synthesis defect type 1
Source : Orphanet
Base de donnée :
DecipherGenomics PanelApp OMIM:607764 Orphanet:79301 HGNC:18324 PMID:12679481 GTEx Portal Human Protein Atlas Ensembl
Human Phenotype Ontology Montrer/Cacher
| HP:0000952 | Jaundice | Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream. |
|---|---|---|
| HP:0003623 | Neonatal onset | Onset of signs or symptoms of disease within the first 28 days of life. |
| HP:0002014 | Diarrhea | Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day. |
| HP:0009830 | Peripheral neuropathy | Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course. |
| HP:0002910 | Elevated hepatic transaminase | Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage. |
| HP:0000007 | Autosomal recessive inheritance | A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). |
| HP:0003256 | Abnormality of the coagulation cascade | An abnormality of the coagulation cascade, which is comprised of the contact activation pathway (also known as the intrinsic pathway) and the tissue factor pathway (also known as the extrinsic pathway) as well as cofactors and regulators. |
| HP:0001508 | Failure to thrive | Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. |
| HP:0006566 | Neonatal cholestatic liver disease | |
| HP:0000939 | Osteoporosis | Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD). |
| HP:0001394 | Cirrhosis | A chronic disorder of the liver in which liver tissue becomes scarred and is partially replaced by regenerative nodules and fibrotic tissue resulting in loss of liver function. |
| HP:0002240 | Hepatomegaly | Abnormally increased size of the liver. |
| HP:0002570 | Steatorrhea | Greater than normal amounts of fat in the feces. This is a result of malabsorption of lipids in the small intestine and results in frothy foul-smelling fecal matter that floats. |
| HP:0003146 | Hypocholesterolemia | An decreased concentration of cholesterol in the blood. |
| HP:0000989 | Pruritus | Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus. |
| HP:0002748 | Rickets | Rickets is divided into two major categories including calcipenic and phosphopenic. Hypophosphatemia is described as a common manifestation of both categories. Hypophosphatemic rickets is the most common type of rickets that is characterized by low levels of serum phosphate, resistance to ultraviolet radiation or vitamin D intake. There are several issues involved in hypophosphatemic rickets such as calcium, vitamin D, phosphorus deficiencies. Moreover, other disorder can be associated with its occurrence such as absorption defects due to pancreatic, intestinal, gastric, and renal disorders and hepatobiliary disease. Symptoms are usually seen in childhood and can be varied in severity. Severe forms may be linked to bowing of the legs, poor bone growth, and short stature as well as joint and bone pain. Hypophosphatemic rickets are associated with renal excretion of phosphate, hypophosphatemia, and mineral defects in bones. The familial type of the disease is the most common type of rickets. |
| HP:0001080 | Biliary tract abnormality | An abnormality of the biliary tree. |
| HP:0001399 | Hepatic failure | |
| HP:0002630 | Fat malabsorption | Abnormality of the absorption of fat from the gastrointestinal tract. |
| HP:0001744 | Splenomegaly | Abnormal increased size of the spleen. |
| HP:0000662 | Nyctalopia | Inability to see well at night or in poor light. |
| HP:0002908 | Conjugated hyperbilirubinemia | |
| HP:0200084 | Giant cell hepatitis | Chronic hepatitis characterized by parenchymal inflammation with formation of large multinucleated hepatocytes in response to a variety of insults to the liver. |
| HP:0002239 | Gastrointestinal hemorrhage | Hemorrhage affecting the gastrointestinal tract. |
| HP:0001928 | Abnormality of coagulation | An abnormality of the process of blood coagulation. That is, altered ability or inability of the blood to clot. |
| HP:0002024 | Malabsorption | Impaired ability to absorb one or more nutrients from the intestine. |
| HP:0001892 | Abnormal bleeding | An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects. |
| HP:0001406 | Intrahepatic cholestasis | Impairment of bile flow due to obstruction in the small bile ducts within the liver. |
| HP:0011985 | Acholic stools | Clay colored stools lacking bile pigment. |
pLI : 0
LOEUF : 0.74
sHet : 0.022
pHaplo : 0.17
pTriplo : 0.89
Localisation : 28,853,732 - 28,857,669
Localisation : 28,853,732 - 28,857,669
Maladie : Combined oxidative phosphorylation defect type 4
Source : Orphanet
Base de donnée :
DecipherGenomics PanelApp OMIM:602389 Orphanet:254925 HGNC:12420 PMID:17160893 GTEx Portal Human Protein Atlas Ensembl
Human Phenotype Ontology Montrer/Cacher
| HP:0003593 | Infantile onset | Onset of signs or symptoms of disease between 28 days to one year of life. |
|---|---|---|
| HP:0002240 | Hepatomegaly | Abnormally increased size of the liver. |
| HP:0001942 | Metabolic acidosis | Metabolic acidosis (MA) is characterized by a fall in blood pH due to a reduction of serum bicarbonate concentration. This can occur as a result of either the accumulation of acids (high anion gap MA) or the loss of bicarbonate from the gastrointestinal tract or the kidney (hyperchloremic MA). By definition, MA is not due to a respirary cause. |
| HP:0002151 | Increased serum lactate | Abnormally increased level of blood lactate (2-hydroxypropanoic acid). Lactate is produced from pyruvate by lactate dehydrogenase during normal metabolism. The terms lactate and lactic acid are often used interchangeably but lactate (the component measured in blood) is strictly a weak base whereas lactic acid is the corresponding acid. Lactic acidosis is often used clinically to describe elevated lactate but should be reserved for cases where there is a corresponding acidosis (pH below 7.35). |
| HP:0002415 | Leukodystrophy | Leukodystrophy refers to deterioration of white matter of the brain resulting from degeneration of myelin sheaths in the CNS. Their basic defect is directly related to the synthesis and maintenance of myelin membranes. Symmetric white matter involvement at MRI is a typical finding in patients with leukodystrophies. |
| HP:0001298 | Encephalopathy | Encephalopathy is a term that means brain disease, damage, or malfunction. In general, encephalopathy is manifested by an altered mental state. |
| HP:0000639 | Nystagmus | Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms. |
| HP:0002179 | Opisthotonus | |
| HP:0001987 | Hyperammonemia | An increased concentration of ammonia in the blood. |
| HP:0002376 | Developmental regression | Loss of developmental skills, as manifested by loss of developmental milestones. |
| HP:0003128 | Lactic acidosis | An abnormal buildup of lactic acid in the body, leading to acidification of the blood and other bodily fluids. |
| HP:0002126 | Polymicrogyria | Polymicrogyria is a congenital malformation of the cerebral cortex characterized by abnormal cortical layering (lamination) and an excessive number of small gyri (folds). |
| HP:0001522 | Death in infancy | Death within the first 24 months of life. |
| HP:0000252 | Microcephaly | Head circumference below 2 standard deviations below the mean for age and gender. |
| HP:0000007 | Autosomal recessive inheritance | A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). |
| HP:0001319 | Neonatal hypotonia | Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period. |
| HP:0001511 | Intrauterine growth retardation | An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age. |
| HP:0002878 | Respiratory failure | A severe form of respiratory insufficiency characterized by inadequate gas exchange such that the levels of oxygen or carbon dioxide cannot be maintained within normal limits. |
| HP:0001257 | Spasticity | A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes. |
pLI : 0
LOEUF : 0.87
sHet : 0.094
pHaplo : 0.15
pTriplo : 0.66
Localisation : 30,003,651 - 30,007,395
Localisation : 30,003,651 - 30,007,395
Base de donnée :
DecipherGenomics OMIM:603365 GTEx Portal Human Protein Atlas Ensembl
pLI : 0.04
LOEUF : 1.72
pHaplo : 0.14
pTriplo : 0.81
Localisation : 29,465,854 - 29,469,540
Localisation : 29,465,854 - 29,469,540
Base de donnée :
DecipherGenomics OMIM:615823 GTEx Portal Human Protein Atlas Ensembl
pLI : 0.12
LOEUF : 1.16
pHaplo : 0.13
pTriplo : 0.42
Localisation : 30,205,196 - 30,208,882
Localisation : 30,205,196 - 30,208,882
Base de donnée :
DecipherGenomics OMIM:615822 GTEx Portal Human Protein Atlas Ensembl
pLI : 0.42
LOEUF : 0.5
sHet : 0.029
pHaplo : 0.14
pTriplo : 0.75
Localisation : 30,535,325 - 30,538,142
Localisation : 30,535,325 - 30,538,142
Base de donnée :
DecipherGenomics OMIM:618032 GTEx Portal Human Protein Atlas Ensembl
Localisation : 32,684,849 - 32,687,486
Base de donnée :
DecipherGenomics OMIM:617482 GTEx Portal Human Protein Atlas Ensembl
pLI : 0
LOEUF : 0.99
sHet : 0.012
pHaplo : 0.09
pTriplo : 0.77
Localisation : 30,454,952 - 30,457,195
Localisation : 30,454,952 - 30,457,195
Base de donnée :
DecipherGenomics OMIM:606218 GTEx Portal Human Protein Atlas Ensembl
pLI : 0
LOEUF : 1.9
sHet : 0.004
pHaplo : 0.17
pTriplo : 0.37
Localisation : 31,212,807 - 31,214,771
Localisation : 31,212,807 - 31,214,771
Base de donnée :
DecipherGenomics PanelApp OMIM:606838 GTEx Portal Human Protein Atlas Ensembl
sHet : 0.067
pHaplo : 0.54
pTriplo : 0.43
Localisation : 31,227,283 - 31,228,456
Localisation : 31,227,283 - 31,228,456
Base de donnée :
DecipherGenomics OMIM:615700 GTEx Portal Human Protein Atlas Ensembl
pLI : 0
LOEUF : 1.96
sHet : 0.007
pHaplo : 0.25
pTriplo : 0.13
Localisation : 31,539,221 - 31,540,124
Localisation : 31,539,221 - 31,540,124
Base de donnée :
DecipherGenomics OMIM:605821 GTEx Portal Human Protein Atlas Ensembl
pHaplo : 0.1
pTriplo : 0.41
Localisation : 29,464,911 - 29,465,672
Localisation : 29,464,911 - 29,465,672
Base de donnée :
DecipherGenomics PanelApp OMIM:613182 GTEx Portal Human Protein Atlas Ensembl
pLI : 0.19
LOEUF : 1.58
pHaplo : 0.51
pTriplo : 0.64
Localisation : 31,439,052 - 31,439,681
Localisation : 31,439,052 - 31,439,681
Maladie : Isolated cytochrome C oxidase deficiency
Source : Orphanet
Base de donnée :
DecipherGenomics PanelApp OMIM:602009 Orphanet:254905 HGNC:2279 PMID:31155743 GTEx Portal Human Protein Atlas Ensembl
Human Phenotype Ontology Montrer/Cacher
| HP:0003593 | Infantile onset | Onset of signs or symptoms of disease between 28 days to one year of life. |
|---|---|---|
| HP:0003688 | Cytochrome C oxidase-negative muscle fibers | An abnormally reduced activity of the enzyme cytochrome C oxidase in muscle tissue. |
| HP:0003542 | Increased serum pyruvate | An increased concentration of pyruvate in the blood. |
| HP:0001290 | Generalized hypotonia | Generalized muscular hypotonia (abnormally low muscle tone). |
| HP:0001324 | Muscle weakness | Reduced strength of muscles. |
| HP:0002151 | Increased serum lactate | Abnormally increased level of blood lactate (2-hydroxypropanoic acid). Lactate is produced from pyruvate by lactate dehydrogenase during normal metabolism. The terms lactate and lactic acid are often used interchangeably but lactate (the component measured in blood) is strictly a weak base whereas lactic acid is the corresponding acid. Lactic acidosis is often used clinically to describe elevated lactate but should be reserved for cases where there is a corresponding acidosis (pH below 7.35). |
| HP:0012240 | Increased intramyocellular lipid droplets | An abnormal increase in intracellular lipid droplets In a muscle. The number and size of these drops can increase with somd disorders of lipid metabolism affecting muscle. See PMID 20691590 for histological images. |
| HP:0002643 | Neonatal respiratory distress | Respiratory difficulty as newborn. |
| HP:0000218 | High palate | Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective). |
| HP:0008347 | Decreased activity of mitochondrial complex IV | A reduction in the activity of the mitochondrial respiratory chain complex IV, which is part of the electron transport chain in mitochondria. |
| HP:0003577 | Congenital onset | A phenotypic abnormality that is present at birth. |
| HP:0030319 | Weakness of facial musculature | Reduced strength of one or more muscles innervated by the facial nerve (the seventh cranial nerve). |
| HP:0000007 | Autosomal recessive inheritance | A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). |
501 Gène(s) Non-OMIM chevauché(s)
ENSG00000285882
Taille : 254,360 bases
Localisation : 25,799,308 - 26,053,668
ENSG00000284685
Taille : 191,925 bases
Localisation : 29,150,700 - 29,342,625
ENSG00000288632
Taille : 170,800 bases
Localisation : 29,454,238 - 29,625,038
ENSG00000291188
Taille : 103,143 bases
Localisation : 29,126,038 - 29,229,181
ENSG00000231876
Taille : 38,751 bases
Localisation : 26,313,385 - 26,352,136
ENSG00000286712
Taille : 60,594 bases
Localisation : 26,558,123 - 26,618,717
ENSG00000261329
Taille : 39,866 bases
Localisation : 27,690,261 - 27,730,127
ENSG00000283662
Taille : 33,487 bases
Localisation : 28,270,007 - 28,303,494
ENSG00000261832
Taille : 35,727 bases
Localisation : 28,467,692 - 28,503,419
ENSG00000289754
Taille : 83,093 bases
Localisation : 28,548,361 - 28,631,454
ENSG00000288656
Taille : 31,308 bases
Localisation : 28,603,376 - 28,634,684
ENSG00000261419
Taille : 81,085 bases
Localisation : 28,671,017 - 28,752,102
ENSG00000260908
Taille : 53,713 bases
Localisation : 29,065,053 - 29,118,766
RRN3P2
Taille : 41,742 bases
Localisation : 29,086,297 - 29,128,039
ENSG00000260517
Taille : 77,045 bases
Localisation : 29,150,982 - 29,228,027
ENSG00000198106
Taille : 80,890 bases
Localisation : 29,302,541 - 29,383,431
SMG1P2
Taille : 67,398 bases
Localisation : 29,538,889 - 29,606,287
TMEM219
Taille : 32,165 bases
pLI : 0
LOEUF : 1.47
sHet : 0.031
pHaplo : 0.04
pTriplo : 0.46
Localisation : 29,952,206 - 29,984,371
Localisation : 29,952,206 - 29,984,371
NPIPB13
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Localisation : 30,234,218 - 30,266,589
SMG1P5
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SMG1P5
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ENSG00000282034
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KRBOX5
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pLI : 0.22
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Localisation : 31,724,550 - 31,806,190
ENSG00000261727
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ENSG00000291276
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HERC2P4
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ENSG00000260866
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HERC2P5
Taille : 33,015 bases
Localisation : 32,753,674 - 32,786,689
ENSG00000261259
Taille : 76,044 bases
Localisation : 32,963,314 - 33,039,358
ENSG00000291267
Taille : 47,980 bases
Localisation : 33,054,930 - 33,102,910
ENSG00000260141
Taille : 48,902 bases
Localisation : 33,057,850 - 33,106,752
HERC2P8
Taille : 33,057 bases
Localisation : 33,106,350 - 33,139,407
ENSG00000259882
Taille : 45,045 bases
Localisation : 33,379,969 - 33,425,014
ENSG00000282924
Taille : 40,417 bases
Localisation : 33,525,823 - 33,566,240
CCNYL3
Taille : 44,149 bases
Localisation : 34,274,535 - 34,318,684
ENSG00000260958
Taille : 76,262 bases
Localisation : 34,442,255 - 34,518,517
ENSG00000261669
Taille : 16,288 bases
Localisation : 24,814,772 - 24,831,060
NOVEL
Taille : 1,611 bases
Localisation : 24,930,714 - 24,932,325
ENSG00000260714
Taille : 5,045 bases
Localisation : 25,027,299 - 25,032,344
ENSG00000291179
Taille : 1,082 bases
Localisation : 25,043,016 - 25,044,098
ENSG00000262587
Taille : 26,228 bases
Localisation : 25,043,202 - 25,069,430
LINC02175
Taille : 21,681 bases
Localisation : 25,078,258 - 25,099,939
SCML2P2
Taille : 539 bases
Localisation : 25,080,891 - 25,081,430
ENSG00000263326
Taille : 1,237 bases
Localisation : 25,082,811 - 25,084,048
LCMT1-AS1
Taille : 26,387 bases
Localisation : 25,096,489 - 25,122,876
ENSG00000262700
Taille : 1,868 bases
Localisation : 25,104,708 - 25,106,576
ENSG00000275494
Taille : 576 bases
Localisation : 25,117,889 - 25,118,465
LCMT1-AS2
Taille : 8,455 bases
Localisation : 25,151,898 - 25,160,353
KNOWN
Taille : 280 bases
Localisation : 25,196,528 - 25,196,808
ZKSCAN2
Taille : 21,844 bases
pLI : 0
LOEUF : 0.55
sHet : 0.013
pHaplo : 0.38
pTriplo : 0.33
Localisation : 25,247,322 - 25,269,166
Localisation : 25,247,322 - 25,269,166
ENSG00000259955
Taille : 969 bases
Localisation : 25,249,639 - 25,250,608
ZKSCAN2-DT
Taille : 3,114 bases
Localisation : 25,269,273 - 25,272,387
LINC02191
Taille : 13,874 bases
Localisation : 25,431,133 - 25,445,007
CYCSP39
Taille : 308 bases
Localisation : 25,465,660 - 25,465,968
ENSG00000260255
Taille : 1,620 bases
Localisation : 25,836,031 - 25,837,651
KNOWN
Taille : 73 bases
Localisation : 26,036,558 - 26,036,631
RNA5SP405
Taille : 113 bases
Localisation : 26,040,233 - 26,040,346
HMGN2P3
Taille : 272 bases
Localisation : 26,043,860 - 26,044,132
HSPE1P16
Taille : 347 bases
Localisation : 26,074,071 - 26,074,418
ENSG00000228480
Taille : 3,559 bases
Localisation : 26,366,117 - 26,369,676
LINC02195
Taille : 10,701 bases
Localisation : 26,596,076 - 26,606,777
ENSG00000260580
Taille : 7,252 bases
Localisation : 26,733,195 - 26,740,447
NOVEL
Taille : 88 bases
Localisation : 26,747,550 - 26,747,638
C16orf82
Taille : 2,239 bases
Localisation : 27,078,248 - 27,080,487
ENSG00000261482
Taille : 930 bases
Localisation : 27,078,249 - 27,079,179
EEF1A1P38
Taille : 1,696 bases
Localisation : 27,144,804 - 27,146,500
LINC02129
Taille : 18,136 bases
Localisation : 27,169,772 - 27,187,908
ENSG00000259940
Taille : 1,685 bases
Localisation : 27,224,629 - 27,226,314
NSMCE1-DT
Taille : 22,287 bases
pLI : 0.03
LOEUF : 1.87
Localisation : 27,279,526 - 27,301,813
Localisation : 27,279,526 - 27,301,813
ENSG00000274092
Taille : 714 bases
Localisation : 27,324,708 - 27,325,422
IL21R-AS1
Taille : 5,724 bases
Localisation : 27,458,990 - 27,464,714
ENSG00000261736
Taille : 1,464 bases
Localisation : 27,654,520 - 27,655,984
NOVEL
Taille : 118 bases
Localisation : 27,673,221 - 27,673,339
ENSG00000273553
Taille : 340 bases
Localisation : 27,698,503 - 27,698,843
NOVEL
Taille : 108 bases
Localisation : 27,733,605 - 27,733,713
KNOWN
Taille : 105 bases
Localisation : 27,874,572 - 27,874,677
KNOWN
Taille : 106 bases
Localisation : 28,009,616 - 28,009,722
TPRKBP2
Taille : 474 bases
Localisation : 28,122,494 - 28,122,968
NOVEL
Taille : 125 bases
Localisation : 28,190,419 - 28,190,544
NOVEL
Taille : 112 bases
Localisation : 28,194,639 - 28,194,751
GAPDHP35
Taille : 975 bases
Localisation : 28,251,014 - 28,251,989
ENSG00000246465
Taille : 7,179 bases
Localisation : 28,296,206 - 28,303,385
ENSG00000277191
Taille : 106 bases
Localisation : 28,352,758 - 28,352,864
NPIPB6
Taille : 20,991 bases
pLI : 0
LOEUF : 1.93
pHaplo : 0.17
pTriplo : 0.23
Localisation : 28,353,838 - 28,374,829
Localisation : 28,353,838 - 28,374,829
ENSG00000271623
Taille : 633 bases
Localisation : 28,376,021 - 28,376,654
EIF3CL
Taille : 24,262 bases
pLI : 0.01
LOEUF : 1.7
pHaplo : 0.11
pTriplo : 0.37
Localisation : 28,390,900 - 28,415,162
Localisation : 28,390,900 - 28,415,162
CDC37P2
Taille : 1,315 bases
Localisation : 28,425,024 - 28,426,339
NOVEL
Taille : 103 bases
Localisation : 28,453,987 - 28,454,090
ENSG00000275654
Taille : 3,712 bases
Localisation : 28,462,965 - 28,466,677
ENSG00000270118
Taille : 370 bases
Localisation : 28,465,462 - 28,465,832
KNOWN
Taille : 14,175 bases
Localisation : 28,467,693 - 28,481,868
ENSG00000271495
Taille : 327 bases
Localisation : 28,559,652 - 28,559,979
ENSG00000275441
Taille : 491 bases
Localisation : 28,565,028 - 28,565,519
ENSG00000278665
Taille : 2,640 bases
Localisation : 28,610,562 - 28,613,202
ENSG00000278725
Taille : 2,179 bases
Localisation : 28,613,661 - 28,615,840
ENSG00000289755
Taille : 18,038 bases
Localisation : 28,616,908 - 28,634,946
ENSG00000285020
Taille : 2,753 bases
Localisation : 28,623,452 - 28,626,205
ENSG00000289756
Taille : 3,419 bases
Localisation : 28,631,384 - 28,634,803
NPIPB8
Taille : 21,090 bases
pLI : 0
LOEUF : 1.92
pHaplo : 0.1
pTriplo : 0.17
Localisation : 28,648,975 - 28,670,065
Localisation : 28,648,975 - 28,670,065
NOVEL
Taille : 103 bases
Localisation : 28,683,554 - 28,683,657
CDC37P1
Taille : 1,246 bases
Localisation : 28,711,615 - 28,712,861
ENSG00000270424
Taille : 636 bases
Localisation : 28,761,280 - 28,761,916
NPIPB9
Taille : 21,077 bases
pLI : 0.11
LOEUF : 1.86
pHaplo : 0.07
pTriplo : 0.2
Localisation : 28,763,108 - 28,784,185
Localisation : 28,763,108 - 28,784,185
ENSG00000278528
Taille : 3,710 bases
Localisation : 28,785,145 - 28,788,855
NOVEL
Taille : 103 bases
Localisation : 28,797,731 - 28,797,834
ENSG00000251417
Taille : 15,085 bases
Localisation : 28,814,064 - 28,829,149
ENSG00000240634
Taille : 693 bases
Localisation : 28,825,301 - 28,825,994
ENSG00000260796
Taille : 1,463 bases
Localisation : 28,831,891 - 28,833,354
ENSG00000275807
Taille : 1,538 bases
Localisation : 28,833,752 - 28,835,290
ENSG00000260570
Taille : 6,588 bases
Localisation : 28,841,933 - 28,848,521
KNOWN
Taille : 88 bases
Localisation : 28,855,240 - 28,855,328
ENSG00000261766
Taille : 1,174 bases
Localisation : 28,873,487 - 28,874,661
ATP2A1-AS1
Taille : 2,000 bases
Localisation : 28,889,259 - 28,891,259
NOVEL
Taille : 127 bases
Localisation : 28,892,801 - 28,892,928
NFATC2IP-AS1
Taille : 14,067 bases
Localisation : 28,964,137 - 28,978,204
KNOWN
Taille : 78 bases
Localisation : 28,969,904 - 28,969,982
ENSG00000260367
Taille : 4,862 bases
Localisation : 28,985,283 - 28,990,145
ENSG00000261067
Taille : 15,971 bases
Localisation : 28,986,125 - 29,002,096
ENSG00000261552
Taille : 1,638 bases
Localisation : 29,000,461 - 29,002,099
NPIPB10P
Taille : 14,071 bases
pLI : 0.1
LOEUF : 1.88
Localisation : 29,049,976 - 29,064,047
Localisation : 29,049,976 - 29,064,047
NOVEL
Taille : 103 bases
Localisation : 29,077,576 - 29,077,679
ENSG00000284671
Taille : 29,140 bases
Localisation : 29,086,343 - 29,115,483
ENSG00000290677
Taille : 4,451 bases
Localisation : 29,114,978 - 29,119,429
ENSG00000284649
Taille : 3,276 bases
Localisation : 29,124,371 - 29,127,647
ENSG00000289080
Taille : 2,400 bases
Localisation : 29,156,759 - 29,159,159
ENSG00000279106
Taille : 1,222 bases
Localisation : 29,215,954 - 29,217,176
ENSG00000259807
Taille : 5,655 bases
Localisation : 29,226,706 - 29,232,361
ENSG00000273582
Taille : 754 bases
Localisation : 29,236,915 - 29,237,669
ENSG00000260953
Taille : 2,206 bases
Localisation : 29,273,594 - 29,275,800
ENSG00000277999
Taille : 552 bases
Localisation : 29,283,541 - 29,284,093
ENSG00000289029
Taille : 2,273 bases
Localisation : 29,300,120 - 29,302,393
ENSG00000260413
Taille : 18,927 bases
Localisation : 29,323,671 - 29,342,598
ENSG00000290680
Taille : 19,526 bases
Localisation : 29,362,067 - 29,381,593
SNX29P2
Taille : 9,272 bases
Localisation : 29,367,108 - 29,376,380
ENSG00000278078
Taille : 103 bases
Localisation : 29,391,563 - 29,391,666
NPIPB11
Taille : 25,401 bases
pLI : 0.01
LOEUF : 1.13
pHaplo : 0.1
pTriplo : 0.26
Localisation : 29,392,631 - 29,418,032
Localisation : 29,392,631 - 29,418,032
SMG1P6
Taille : 21,226 bases
Localisation : 29,437,121 - 29,458,347
NOVEL
Taille : 103 bases
Localisation : 29,448,818 - 29,448,921
BOLA2-SMG1P6
Taille : 11,421 bases
Localisation : 29,454,551 - 29,465,972
ENSG00000260335
Taille : 434 bases
Localisation : 29,460,512 - 29,460,946
SLX1B-SULT1A4
Taille : 9,858 bases
pLI : 0.38
LOEUF : 1.74
Localisation : 29,466,426 - 29,476,284
Localisation : 29,466,426 - 29,476,284
ENSG00000290678
Taille : 2,866 bases
Localisation : 29,476,288 - 29,479,154
ENSG00000258150
Taille : 519 bases
Localisation : 29,476,543 - 29,477,062
ENSG00000279228
Taille : 1,196 bases
Localisation : 29,477,390 - 29,478,586
ENSG00000290679
Taille : 417 bases
Localisation : 29,478,482 - 29,478,899
ENSG00000257691
Taille : 291 bases
Localisation : 29,486,385 - 29,486,676
ENSG00000257506
Taille : 3,712 bases
Localisation : 29,490,200 - 29,493,912
NPIPB12
Taille : 22,874 bases
pLI : 0.28
LOEUF : 1.9
Localisation : 29,494,855 - 29,517,729
Localisation : 29,494,855 - 29,517,729
NOVEL
Taille : 103 bases
Localisation : 29,550,583 - 29,550,686
ENSG00000279583
Taille : 1,007 bases
Localisation : 29,606,451 - 29,607,458
KNOWN
Taille : 86 bases
Localisation : 29,610,500 - 29,610,586
SLC7A5P1
Taille : 537 bases
Localisation : 29,624,424 - 29,624,961
CA5AP1
Taille : 17,543 bases
Localisation : 29,630,106 - 29,647,649
ENSG00000260514
Taille : 308 bases
Localisation : 29,635,838 - 29,636,146
ENSG00000289181
Taille : 172 bases
Localisation : 29,720,477 - 29,720,649
KNOWN
Taille : 353 bases
Localisation : 29,742,372 - 29,742,725
C16orf54
Taille : 3,527 bases
pLI : 0.37
LOEUF : 1.01
pHaplo : 0.09
pTriplo : 0.25
Localisation : 29,753,784 - 29,757,311
Localisation : 29,753,784 - 29,757,311
ENSG00000260719
Taille : 3,052 bases
Localisation : 29,756,568 - 29,759,620
ENSG00000275857
Taille : 560 bases
Localisation : 29,815,751 - 29,816,311
ENSG00000259952
Taille : 1,236 bases
Localisation : 29,817,817 - 29,819,053
MVP-DT
Taille : 12,616 bases
Localisation : 29,819,957 - 29,832,573
ENSG00000280607
Taille : 3,548 bases
Localisation : 29,820,000 - 29,823,548
ENSG00000280893
Taille : 7,831 bases
Localisation : 29,823,582 - 29,831,413
ENSG00000281348
Taille : 13,388 bases
Localisation : 29,828,560 - 29,841,948
ENSG00000278713
Taille : 657 bases
Localisation : 29,874,081 - 29,874,738
CDIPTOSP
Taille : 4,460 bases
Localisation : 29,874,914 - 29,879,374
ASPHD1
Taille : 19,489 bases
pLI : 0
LOEUF : 1
sHet : 0.013
pHaplo : 0.23
pTriplo : 0.61
Localisation : 29,911,696 - 29,931,185
Localisation : 29,911,696 - 29,931,185
ENSG00000279789
Taille : 2,193 bases
Localisation : 29,924,465 - 29,926,658
KCTD13-DT
Taille : 2,097 bases
Localisation : 29,938,157 - 29,940,254
INO80E
Taille : 10,078 bases
pLI : 0.01
LOEUF : 0.95
sHet : 0.005
pHaplo : 0.1
pTriplo : 0.51
Localisation : 30,007,036 - 30,017,114
Localisation : 30,007,036 - 30,017,114
ENSG00000285043
Taille : 17,291 bases
Localisation : 30,064,444 - 30,081,735
ENSG00000274904
Taille : 519 bases
Localisation : 30,075,627 - 30,076,146
YPEL3-DT
Taille : 8,763 bases
Localisation : 30,107,751 - 30,116,514
ENSG00000261367
Taille : 2,866 bases
Localisation : 30,118,996 - 30,121,862
ENSG00000275371
Taille : 1,060 bases
Localisation : 30,122,216 - 30,123,276
CORO1A-AS1
Taille : 1,452 bases
Localisation : 30,194,826 - 30,196,278
BOLA2B
Taille : 1,374 bases
pHaplo : 0.15
pTriplo : 0.29
Localisation : 30,204,253 - 30,205,627
Localisation : 30,204,253 - 30,205,627
SLX1A-SULT1A3
Taille : 10,418 bases
Localisation : 30,205,213 - 30,215,631
ENSG00000290692
Taille : 4,755 bases
Localisation : 30,215,637 - 30,220,392
ENSG00000258130
Taille : 519 bases
Localisation : 30,215,892 - 30,216,411
ENSG00000278887
Taille : 1,196 bases
Localisation : 30,216,739 - 30,217,935
ENSG00000290693
Taille : 417 bases
Localisation : 30,217,831 - 30,218,248
ENSG00000261444
Taille : 290 bases
Localisation : 30,225,730 - 30,226,020
ENSG00000261203
Taille : 3,710 bases
Localisation : 30,229,541 - 30,233,251
ENSG00000291047
Taille : 9,905 bases
Localisation : 30,281,386 - 30,291,291
NOVEL
Taille : 103 bases
Localisation : 30,290,569 - 30,290,672
ENSG00000273724
Taille : 6,936 bases
Localisation : 30,347,721 - 30,354,657
CD2BP2-DT
Taille : 8,956 bases
Localisation : 30,365,986 - 30,374,942
ENSG00000274653
Taille : 511 bases
Localisation : 30,371,146 - 30,371,657
ZNF48
Taille : 22,002 bases
pLI : 0.01
LOEUF : 0.69
sHet : 0.024
pHaplo : 0.13
pTriplo : 0.58
Localisation : 30,389,427 - 30,411,429
Localisation : 30,389,427 - 30,411,429
ENSG00000280137
Taille : 347 bases
Localisation : 30,391,084 - 30,391,431
ZNF771
Taille : 23,694 bases
pLI : 0.06
LOEUF : 1.02
sHet : 0.069
pHaplo : 0.07
pTriplo : 0.56
Localisation : 30,418,735 - 30,442,429
Localisation : 30,418,735 - 30,442,429
NOVEL
Taille : 134 bases
Localisation : 30,430,946 - 30,431,080
NOVEL
Taille : 100 bases
Localisation : 30,465,318 - 30,465,418
NOVEL
Taille : 116 bases
Localisation : 30,482,908 - 30,483,024
ENSG00000261346
Taille : 12,173 bases
Localisation : 30,488,501 - 30,500,674
ENSG00000260487
Taille : 758 bases
Localisation : 30,491,909 - 30,492,667
KNOWN
Taille : 60 bases
Localisation : 30,494,456 - 30,494,516
ENSG00000261332
Taille : 788 bases
Localisation : 30,510,087 - 30,510,875
KNOWN
Taille : 82 bases
Localisation : 30,515,240 - 30,515,322
ENSG00000261459
Taille : 8,929 bases
Localisation : 30,537,244 - 30,546,173
ENSG00000278922
Taille : 1,376 bases
Localisation : 30,538,239 - 30,539,615
ZNF747
Taille : 4,980 bases
pLI : 0.07
LOEUF : 1.47
sHet : 0.006
pHaplo : 0.08
pTriplo : 0.47
Localisation : 30,541,688 - 30,546,668
Localisation : 30,541,688 - 30,546,668
ZNF747-DT
Taille : 2,397 bases
Localisation : 30,546,073 - 30,548,470
ENSG00000260494
Taille : 1,029 bases
Localisation : 30,548,523 - 30,549,552
ZNF688
Taille : 3,062 bases
pLI : 0
LOEUF : 1.67
sHet : 0.006
pHaplo : 0.11
pTriplo : 0.75
Localisation : 30,580,993 - 30,584,055
Localisation : 30,580,993 - 30,584,055
ENSG00000239791
Taille : 11,821 bases
Localisation : 30,583,360 - 30,595,181
ZNF785
Taille : 12,029 bases
pLI : 0
LOEUF : 1.94
sHet : 0.004
pHaplo : 0.08
pTriplo : 0.55
Localisation : 30,585,061 - 30,597,090
Localisation : 30,585,061 - 30,597,090
ENSG00000260167
Taille : 22,686 bases
Localisation : 30,597,228 - 30,619,914
ENSG00000261588
Taille : 258 bases
Localisation : 30,598,983 - 30,599,241
ENSG00000289491
Taille : 140 bases
Localisation : 30,621,532 - 30,621,672
ENSG00000260678
Taille : 423 bases
Localisation : 30,626,577 - 30,627,000
ENSG00000261680
Taille : 429 bases
Localisation : 30,635,606 - 30,636,035
ENSG00000260113
Taille : 202 bases
Localisation : 30,638,297 - 30,638,499
ENSG00000288983
Taille : 1,065 bases
Localisation : 30,645,828 - 30,646,893
KNOWN
Taille : 102 bases
Localisation : 30,686,621 - 30,686,723
ENSG00000261840
Taille : 1,354 bases
Localisation : 30,709,025 - 30,710,379
KNOWN
Taille : 98 bases
Localisation : 30,712,658 - 30,712,756
KNOWN
Taille : 128 bases
Localisation : 30,721,858 - 30,721,986
TMEM265
Taille : 4,554 bases
Localisation : 30,751,963 - 30,756,517
ENSG00000260899
Taille : 10,714 bases
Localisation : 30,751,988 - 30,762,702
ENSG00000280211
Taille : 2,501 bases
Localisation : 30,784,853 - 30,787,354
ENSG00000260082
Taille : 1,042 bases
Localisation : 30,832,389 - 30,833,431
ENSG00000274678
Taille : 546 bases
Localisation : 30,832,659 - 30,833,205
MIR762HG
Taille : 19,998 bases
Localisation : 30,886,543 - 30,906,541
KNOWN
Taille : 57 bases
Localisation : 30,886,587 - 30,886,644
ENSG00000262721
Taille : 19,450 bases
Localisation : 30,887,087 - 30,906,537
KNOWN
Taille : 82 bases
Localisation : 30,905,224 - 30,905,306
CTF2P
Taille : 5,860 bases
Localisation : 30,915,669 - 30,921,529
FBXL19-AS1
Taille : 3,950 bases
Localisation : 30,930,640 - 30,934,590
ENSG00000261487
Taille : 8,125 bases
Localisation : 30,959,707 - 30,967,832
ENSG00000275263
Taille : 327 bases
Localisation : 30,968,193 - 30,968,520
ENSG00000279196
Taille : 3,640 bases
Localisation : 30,995,951 - 30,999,591
ENSG00000260911
Taille : 6,718 bases
Localisation : 31,054,471 - 31,061,189
ENSG00000232748
Taille : 6,343 bases
Localisation : 31,067,781 - 31,074,124
ENSG00000261124
Taille : 3,751 bases
Localisation : 31,076,816 - 31,080,567
ENSG00000255439
Taille : 11,517 bases
Localisation : 31,094,760 - 31,106,277
ENSG00000280160
Taille : 2,217 bases
Localisation : 31,105,048 - 31,107,265
NOVEL
Taille : 83 bases
Localisation : 31,120,551 - 31,120,634
ENSG00000262766
Taille : 669 bases
Localisation : 31,129,399 - 31,130,068
ENSG00000278133
Taille : 1,829 bases
Localisation : 31,133,556 - 31,135,385
ENSG00000261385
Taille : 444 bases
Localisation : 31,142,754 - 31,143,198
ENSG00000263343
Taille : 279 bases
Localisation : 31,176,969 - 31,177,248
NDUFA3P6
Taille : 249 bases
Localisation : 31,185,894 - 31,186,143
ENSG00000260304
Taille : 774 bases
Localisation : 31,193,832 - 31,194,606
ENSG00000260060
Taille : 832 bases
Localisation : 31,207,452 - 31,208,284
PYCARD-AS1
Taille : 1,567 bases
pLI : 0.34
LOEUF : 1.82
Localisation : 31,213,206 - 31,214,773
Localisation : 31,213,206 - 31,214,773
KNOWN
Taille : 54 bases
Localisation : 31,278,758 - 31,278,812
ENSG00000289930
Taille : 801 bases
Localisation : 31,363,088 - 31,363,889
ENSG00000261245
Taille : 417 bases
Localisation : 31,372,599 - 31,373,016
ENSG00000260757
Taille : 2,134 bases
Localisation : 31,413,886 - 31,416,020
ENSG00000277543
Taille : 466 bases
Localisation : 31,439,501 - 31,439,967
ZNF843
Taille : 10,567 bases
pLI : 0
LOEUF : 1.48
pHaplo : 0.09
pTriplo : 0.28
Localisation : 31,443,914 - 31,454,481
Localisation : 31,443,914 - 31,454,481
ENSG00000261474
Taille : 3,958 bases
Localisation : 31,460,856 - 31,464,814
ENSG00000260267
Taille : 3,025 bases
Localisation : 31,468,032 - 31,471,057
ENSG00000280132
Taille : 1,904 bases
Localisation : 31,481,525 - 31,483,429
ENSG00000260740
Taille : 1,122 bases
Localisation : 31,498,691 - 31,499,813
RUSF1
Taille : 19,838 bases
pLI : 0
LOEUF : 1.39
Localisation : 31,500,792 - 31,520,630
Localisation : 31,500,792 - 31,520,630
RUSF1-DT
Taille : 1,102 bases
Localisation : 31,519,785 - 31,520,887
ENSG00000289889
Taille : 5,482 bases
Localisation : 31,528,123 - 31,533,605
LINC02190
Taille : 10,856 bases
Localisation : 31,554,069 - 31,564,925
ENSG00000261648
Taille : 539 bases
Localisation : 31,558,019 - 31,558,558
VN1R64P
Taille : 932 bases
Localisation : 31,558,126 - 31,559,058
VN1R65P
Taille : 807 bases
Localisation : 31,565,426 - 31,566,233
FRG2KP
Taille : 1,701 bases
Localisation : 31,574,403 - 31,576,104
FRG2KP
Taille : 4,531 bases
Localisation : 31,574,506 - 31,579,037
ENSG00000278885
Taille : 640 bases
Localisation : 31,577,681 - 31,578,321
YBX3P1
Taille : 1,089 bases
Localisation : 31,579,707 - 31,580,796
KRBOX5P1
Taille : 1,938 bases
Localisation : 31,612,914 - 31,614,852
VN1R66P
Taille : 915 bases
Localisation : 31,659,628 - 31,660,543
RBM22P12
Taille : 1,254 bases
Localisation : 31,692,168 - 31,693,422
ENSG00000260472
Taille : 210 bases
Localisation : 31,708,718 - 31,708,928
ENSG00000260568
Taille : 789 bases
Localisation : 31,710,997 - 31,711,786
ENSG00000290927
Taille : 11,428 bases
Localisation : 31,711,879 - 31,723,307
CLUHP3
Taille : 5,413 bases
Localisation : 31,714,489 - 31,719,902
ENSG00000276867
Taille : 532 bases
Localisation : 31,716,049 - 31,716,581
ENSG00000261731
Taille : 2,871 bases
Localisation : 31,720,434 - 31,723,305
ENSG00000259810
Taille : 2,791 bases
Localisation : 31,799,523 - 31,802,314
VN1R67P
Taille : 912 bases
Localisation : 31,812,906 - 31,813,818
ENSG00000261457
Taille : 5,026 bases
Localisation : 31,814,268 - 31,819,294
VN1R3
Taille : 918 bases
Localisation : 31,819,247 - 31,820,165
RBM22P13
Taille : 1,243 bases
Localisation : 31,874,954 - 31,876,197
ENSG00000259874
Taille : 237 bases
Localisation : 31,882,208 - 31,882,445
ENSG00000259950
Taille : 441 bases
Localisation : 31,905,863 - 31,906,304
ENSG00000261289
Taille : 313 bases
Localisation : 31,963,481 - 31,963,794
ENSG00000197476
Taille : 318 bases
Localisation : 31,973,384 - 31,973,702
ENSG00000260218
Taille : 276 bases
Localisation : 31,975,124 - 31,975,400
ENSG00000260628
Taille : 29,154 bases
Localisation : 31,987,124 - 32,016,278
ENSG00000291271
Taille : 12,615 bases
Localisation : 31,993,191 - 32,005,806
ENSG00000290953
Taille : 1,255 bases
Localisation : 32,006,142 - 32,007,397
IGHV1OR16-1
Taille : 473 bases
Localisation : 32,046,174 - 32,046,647
ENSG00000223931
Taille : 455 bases
Localisation : 32,063,146 - 32,063,601
IGHV1OR16-3
Taille : 288 bases
Localisation : 32,070,405 - 32,070,693
IGHV3OR16-9
Taille : 293 bases
Localisation : 32,077,386 - 32,077,679
ENSG00000260584
Taille : 297 bases
Localisation : 32,128,021 - 32,128,318
ENSG00000286473
Taille : 6,292 bases
Localisation : 32,137,753 - 32,144,045
ENSG00000290845
Taille : 18,123 bases
Localisation : 32,181,305 - 32,199,428
ENSG00000279997
Taille : 687 bases
Localisation : 32,196,945 - 32,197,632
ENSG00000260847
Taille : 5,197 bases
Localisation : 32,199,654 - 32,204,851
ENSG00000260649
Taille : 219 bases
Localisation : 32,200,583 - 32,200,802
ABHD17AP8
Taille : 2,920 bases
Localisation : 32,211,223 - 32,214,143
ENSG00000260344
Taille : 123 bases
Localisation : 32,224,701 - 32,224,824
ENSG00000260575
Taille : 3,802 bases
Localisation : 32,261,941 - 32,265,743
TP53TG3D
Taille : 2,642 bases
pLI : 0.01
LOEUF : 1.83
pHaplo : 0.06
pTriplo : 0.19
Localisation : 32,264,607 - 32,267,249
Localisation : 32,264,607 - 32,267,249
ENSG00000260402
Taille : 2,687 bases
Localisation : 32,274,148 - 32,276,835
ENSG00000259822
Taille : 249 bases
Localisation : 32,290,187 - 32,290,436
ENSG00000261127
Taille : 21,008 bases
Localisation : 32,300,868 - 32,321,876
CHEK2P7
Taille : 6,714 bases
Localisation : 32,368,302 - 32,375,016
ACTR3BP3
Taille : 978 bases
Localisation : 32,390,392 - 32,391,370
PABPC1P13
Taille : 2,090 bases
Localisation : 32,450,390 - 32,452,480
ENSG00000261541
Taille : 4,146 bases
Localisation : 32,465,933 - 32,470,079
ENSG00000260662
Taille : 96 bases
Localisation : 32,471,587 - 32,471,683
ABCD1P3
Taille : 3,199 bases
Localisation : 32,486,372 - 32,489,571
ENSG00000289734
Taille : 15,272 bases
Localisation : 32,611,620 - 32,626,892
FAM153DP
Taille : 13,064 bases
Localisation : 32,613,896 - 32,626,960
ENSG00000262187
Taille : 3,451 bases
Localisation : 32,630,054 - 32,633,505
ENSG00000261111
Taille : 372 bases
Localisation : 32,646,994 - 32,647,366
ENSG00000261569
Taille : 14,763 bases
Localisation : 32,660,514 - 32,675,277
ENSG00000261263
Taille : 715 bases
Localisation : 32,661,516 - 32,662,231
ENSG00000282927
Taille : 244 bases
Localisation : 32,661,995 - 32,662,239
ENSG00000260311
Taille : 2,608 bases
Localisation : 32,675,246 - 32,677,854
TP53TG3F
Taille : 2,637 bases
Localisation : 32,684,849 - 32,687,486
ENSG00000260974
Taille : 3,794 bases
Localisation : 32,686,358 - 32,690,152
ENSG00000261391
Taille : 125 bases
Localisation : 32,727,252 - 32,727,377
ABHD17AP7
Taille : 2,922 bases
Localisation : 32,737,936 - 32,740,858
ENSG00000260845
Taille : 5,185 bases
Localisation : 32,747,230 - 32,752,415
ENSG00000261108
Taille : 539 bases
Localisation : 32,750,948 - 32,751,487
ENSG00000291274
Taille : 12,024 bases
Localisation : 32,752,635 - 32,764,659
ENSG00000291275
Taille : 10,655 bases
Localisation : 32,772,264 - 32,782,919
ENSG00000290984
Taille : 1,267 bases
Localisation : 32,786,250 - 32,787,517
ENSG00000278950
Taille : 2,255 bases
Localisation : 32,793,204 - 32,795,459
ENSG00000279780
Taille : 985 bases
Localisation : 32,797,715 - 32,798,700
ENSG00000279795
Taille : 982 bases
Localisation : 32,799,283 - 32,800,265
ENSG00000260158
Taille : 15,089 bases
Localisation : 32,820,877 - 32,835,966
ENSG00000261719
Taille : 222 bases
Localisation : 32,822,350 - 32,822,572
ENSG00000259934
Taille : 216 bases
Localisation : 32,857,285 - 32,857,501
IGHV2OR16-5
Taille : 443 bases
Localisation : 32,859,034 - 32,859,477
BCAP31P2
Taille : 3,143 bases
Localisation : 32,881,306 - 32,884,449
SLC6A10P
Taille : 7,673 bases
Localisation : 32,888,790 - 32,896,463
SLC6A10P
Taille : 6,795 bases
Localisation : 32,890,027 - 32,896,822
ENSG00000214614
Taille : 6,288 bases
Localisation : 32,893,907 - 32,900,195
IGHV3OR16-15
Taille : 452 bases
Localisation : 32,914,763 - 32,915,215
IGHV3OR16-6
Taille : 462 bases
Localisation : 32,926,395 - 32,926,857
ENSG00000277304
Taille : 29,418 bases
Localisation : 32,928,295 - 32,957,713
ENSG00000260610
Taille : 801 bases
Localisation : 32,943,089 - 32,943,890
IGHV1OR16-2
Taille : 430 bases
Localisation : 32,989,782 - 32,990,212
IGHV3OR16-10
Taille : 457 bases
Localisation : 33,006,369 - 33,006,826
ENSG00000260921
Taille : 1,233 bases
Localisation : 33,006,858 - 33,008,091
IGHV1OR16-4
Taille : 288 bases
Localisation : 33,013,654 - 33,013,942
IGHV3OR16-8
Taille : 445 bases
Localisation : 33,020,496 - 33,020,941
ENSG00000260900
Taille : 162 bases
Localisation : 33,071,257 - 33,071,419
ENSG00000291268
Taille : 1,267 bases
Localisation : 33,105,525 - 33,106,792
ENSG00000290986
Taille : 10,657 bases
Localisation : 33,110,129 - 33,120,786
ENSG00000291269
Taille : 17,408 bases
Localisation : 33,123,003 - 33,140,411
ENSG00000261682
Taille : 5,183 bases
Localisation : 33,140,637 - 33,145,820
ENSG00000259800
Taille : 207 bases
Localisation : 33,141,556 - 33,141,763
ABHD17AP9
Taille : 2,947 bases
Localisation : 33,152,171 - 33,155,118
ENSG00000260414
Taille : 123 bases
Localisation : 33,165,673 - 33,165,796
ENSG00000260419
Taille : 3,793 bases
Localisation : 33,202,882 - 33,206,675
TP53TG3E
Taille : 2,639 bases
Localisation : 33,205,547 - 33,208,186
TP53TG3C
Taille : 2,632 bases
pHaplo : 0.12
pTriplo : 0.31
Localisation : 33,205,547 - 33,208,179
Localisation : 33,205,547 - 33,208,179
ENSG00000260827
Taille : 2,689 bases
Localisation : 33,215,094 - 33,217,783
NOVEL
Taille : 13,831 bases
Localisation : 33,217,752 - 33,231,583
ENSG00000282973
Taille : 214 bases
Localisation : 33,246,423 - 33,246,637
TP53TG3B
Taille : 2,637 bases
pHaplo : 0.07
pTriplo : 0.29
Localisation : 33,262,082 - 33,264,719
Localisation : 33,262,082 - 33,264,719
ENSG00000261009
Taille : 2,442 bases
Localisation : 33,271,714 - 33,274,156
ENSG00000283110
Taille : 244 bases
Localisation : 33,287,346 - 33,287,590
ENSG00000262090
Taille : 150 bases
Localisation : 33,298,410 - 33,298,560
ENSG00000260626
Taille : 1,160 bases
Localisation : 33,336,283 - 33,337,443
ENSG00000261200
Taille : 3,970 bases
Localisation : 33,344,309 - 33,348,279
ENSG00000261466
Taille : 6,111 bases
Localisation : 33,350,764 - 33,356,875
ENSG00000290420
Taille : 1,697 bases
Localisation : 33,365,116 - 33,366,813
CHEK2P6
Taille : 7,905 bases
Localisation : 33,365,497 - 33,373,402
KNOWN
Taille : 129 bases
Localisation : 33,379,962 - 33,380,091
ENSG00000290414
Taille : 1,056 bases
Localisation : 33,489,492 - 33,490,548
BMS1P8
Taille : 11,174 bases
Localisation : 33,489,797 - 33,500,971
ENSG00000291264
Taille : 18,991 bases
Localisation : 33,490,689 - 33,509,680
ENPP7P13
Taille : 258 bases
Localisation : 33,571,888 - 33,572,146
ENSG00000260308
Taille : 213 bases
Localisation : 33,573,502 - 33,573,715
IGHV3OR16-12
Taille : 453 bases
Localisation : 33,605,231 - 33,605,684
ENSG00000261153
Taille : 1,989 bases
Localisation : 33,611,245 - 33,613,234
IGHV3OR16-13
Taille : 447 bases
Localisation : 33,629,681 - 33,630,128
IGHV3OR16-17
Taille : 445 bases
pLI : 0.01
LOEUF : 1.95
Localisation : 33,647,251 - 33,647,696
Localisation : 33,647,251 - 33,647,696
ENSG00000270924
Taille : 168 bases
Localisation : 33,650,943 - 33,651,111
ENSG00000271691
Taille : 284 bases
Localisation : 33,654,252 - 33,654,536
ENSG00000260312
Taille : 929 bases
Localisation : 33,660,402 - 33,661,331
IGHV3OR16-11
Taille : 456 bases
Localisation : 33,661,363 - 33,661,819
ENSG00000260525
Taille : 429 bases
Localisation : 33,677,506 - 33,677,935
ARHGAP23P1
Taille : 29,605 bases
Localisation : 33,709,886 - 33,739,491
ENSG00000290419
Taille : 737 bases
Localisation : 33,738,897 - 33,739,634
IGHV3OR16-7
Taille : 462 bases
Localisation : 33,740,804 - 33,741,266
ENSG00000261607
Taille : 270 bases
Localisation : 33,750,745 - 33,751,015
IGHV3OR16-16
Taille : 444 bases
Localisation : 33,752,443 - 33,752,887
ENSG00000205452
Taille : 11,799 bases
Localisation : 33,767,014 - 33,778,813
ENSG00000270401
Taille : 436 bases
Localisation : 33,768,122 - 33,768,558
ENSG00000198555
Taille : 11,591 bases
Localisation : 33,778,506 - 33,790,097
BCAP31P1
Taille : 3,145 bases
Localisation : 33,790,873 - 33,794,018
ENSG00000259990
Taille : 436 bases
Localisation : 33,815,861 - 33,816,297
ENSG00000283065
Taille : 217 bases
Localisation : 33,817,727 - 33,817,944
ENSG00000261197
Taille : 223 bases
Localisation : 33,853,607 - 33,853,830
ENSG00000262561
Taille : 207 bases
Localisation : 33,922,937 - 33,923,144
DUX4L45
Taille : 1,056 bases
Localisation : 33,938,203 - 33,939,259
PCMTD1P2
Taille : 354 bases
Localisation : 33,941,656 - 33,942,010
DUX4L46
Taille : 750 bases
Localisation : 33,943,723 - 33,944,473
DUX4L47
Taille : 393 bases
Localisation : 33,944,923 - 33,945,316
NOVEL
Taille : 72 bases
Localisation : 33,945,949 - 33,946,021
LINC00273
Taille : 1,451 bases
Localisation : 33,961,052 - 33,962,503
NOVEL
Taille : 114 bases
Localisation : 33,961,652 - 33,961,766
RNA5-8SP2
Taille : 151 bases
Localisation : 33,965,426 - 33,965,577
ENSG00000279165
Taille : 1,903 bases
Localisation : 34,176,348 - 34,178,251
ENSG00000286968
Taille : 2,300 bases
Localisation : 34,197,341 - 34,199,641
ENSG00000287353
Taille : 2,300 bases
Localisation : 34,197,341 - 34,199,641
LINC02184
Taille : 1,100 bases
Localisation : 34,213,115 - 34,214,215
KNOWN
Taille : 240 bases
Localisation : 34,213,746 - 34,213,986
NOVEL
Taille : 363 bases
Localisation : 34,232,106 - 34,232,469
ENSG00000179755
Taille : 2,480 bases
Localisation : 34,256,120 - 34,258,600
ENSG00000288300
Taille : 2,228 bases
Localisation : 34,256,372 - 34,258,600
ENSG00000261566
Taille : 1,399 bases
Localisation : 34,257,222 - 34,258,621
ENSG00000262885
Taille : 426 bases
Localisation : 34,257,710 - 34,258,136
ENSG00000284209
Taille : 29,610 bases
Localisation : 34,265,090 - 34,294,700
CLUHP11
Taille : 16,849 bases
Localisation : 34,302,582 - 34,319,431
NAMPTP3
Taille : 223 bases
Localisation : 34,320,267 - 34,320,490
VPS35P1
Taille : 14,333 bases
Localisation : 34,324,872 - 34,339,205
VN1R68P
Taille : 718 bases
Localisation : 34,352,609 - 34,353,327
VN1R69P
Taille : 561 bases
Localisation : 34,368,885 - 34,369,446
KNOWN
Taille : 510 bases
Localisation : 34,375,269 - 34,375,779
ENSG00000261800
Taille : 2,407 bases
Localisation : 34,378,093 - 34,380,500
KNOWN
Taille : 489 bases
Localisation : 34,378,356 - 34,378,845
ENSG00000280180
Taille : 5,730 bases
Localisation : 34,383,007 - 34,388,737
KNOWN
Taille : 333 bases
Localisation : 34,383,828 - 34,384,161
UBE2MP1
Taille : 549 bases
Localisation : 34,404,063 - 34,404,612
SLC25A1P4
Taille : 777 bases
Localisation : 34,407,687 - 34,408,464
ENSG00000260073
Taille : 2,974 bases
Localisation : 34,427,058 - 34,430,032
ENSG00000260590
Taille : 399 bases
Localisation : 34,427,706 - 34,428,105
ENSG00000261398
Taille : 1,765 bases
Localisation : 34,430,150 - 34,431,915
TP53TG3GP
Taille : 333 bases
Localisation : 34,442,274 - 34,442,607
NOVEL
Taille : 65 bases
Localisation : 34,442,877 - 34,442,942
RARRES2P5
Taille : 465 bases
Localisation : 34,455,954 - 34,456,419
FGFR3P5
Taille : 3,572 bases
Localisation : 34,466,783 - 34,470,355
FRG2JP
Taille : 1,618 bases
Localisation : 34,480,287 - 34,481,905
RARRES2P6
Taille : 441 bases
Localisation : 34,489,563 - 34,490,004
AGGF1P8
Taille : 999 bases
Localisation : 34,493,001 - 34,494,000
NOVEL
Taille : 101 bases
Localisation : 34,510,863 - 34,510,964
FRG2HP
Taille : 1,612 bases
Localisation : 34,569,648 - 34,571,260
RARRES2P9
Taille : 468 bases
Localisation : 34,578,462 - 34,578,930
AGGF1P9
Taille : 912 bases
Localisation : 34,581,756 - 34,582,668
C2orf69P4
Taille : 540 bases
Localisation : 34,586,853 - 34,587,393
LINC01566
Taille : 27,172 bases
Localisation : 34,597,783 - 34,624,955
FRG2GP
Taille : 942 bases
Localisation : 34,618,515 - 34,619,457
AGGF1P4
Taille : 800 bases
Localisation : 34,623,574 - 34,624,374
FRG2IP
Taille : 1,602 bases
Localisation : 34,640,118 - 34,641,720
RARRES2P7
Taille : 468 bases
Localisation : 34,648,650 - 34,649,118
AGGF1P5
Taille : 918 bases
Localisation : 34,654,662 - 34,655,580
C2orf69P3
Taille : 1,119 bases
Localisation : 34,659,735 - 34,660,854
ENSG00000278681
Taille : 1,038 bases
Localisation : 34,669,674 - 34,670,712
ZNF971P
Taille : 2,513 bases
Localisation : 34,681,269 - 34,683,782
ENSG00000287163
Taille : 2,089 bases
Localisation : 34,685,269 - 34,687,358
ENSG00000290413
Taille : 3,067 bases
Localisation : 34,711,785 - 34,714,852
FRG2DP
Taille : 822 bases
Localisation : 34,712,988 - 34,713,810
RARRES2P10
Taille : 459 bases
Localisation : 34,720,137 - 34,720,596
AGGF1P6
Taille : 975 bases
Localisation : 34,723,608 - 34,724,583
ENSG00000261350
Taille : 1,221 bases
Localisation : 34,725,545 - 34,726,766
C2orf69P2
Taille : 1,122 bases
Localisation : 34,726,695 - 34,727,817
ENSG00000261445
Taille : 2,703 bases
Localisation : 34,728,125 - 34,730,828
ENSG00000287448
Taille : 22,971 bases
Localisation : 34,733,865 - 34,756,836
ENSG00000260857
Taille : 2,197 bases
Localisation : 34,738,741 - 34,740,938
TP53TG3HP
Taille : 578 bases
Localisation : 34,740,963 - 34,741,541
ENSG00000282946
Taille : 951 bases
Localisation : 34,762,738 - 34,763,689
RARRES2P8
Taille : 366 bases
Localisation : 34,777,650 - 34,778,016
AGGF1P7
Taille : 912 bases
Localisation : 34,782,288 - 34,783,200
C2orf69P1
Taille : 1,092 bases
Localisation : 34,787,280 - 34,788,372
C1QL1P1
Taille : 660 bases
Localisation : 34,809,205 - 34,809,865
KIF18BP1
Taille : 8,493 bases
Localisation : 34,871,058 - 34,879,551
ENSG00000259791
Taille : 553 bases
Localisation : 34,874,400 - 34,874,953
ENSG00000260522
Taille : 261 bases
Localisation : 34,956,639 - 34,956,900
RNA5SP406
Taille : 111 bases
Localisation : 34,968,764 - 34,968,875
RNA5SP407
Taille : 109 bases
Localisation : 34,969,010 - 34,969,119
RNA5SP408
Taille : 99 bases
Localisation : 34,969,743 - 34,969,842
RNA5SP409
Taille : 108 bases
Localisation : 34,969,996 - 34,970,104
LINC02167
Taille : 13,247 bases
Localisation : 34,977,639 - 34,990,886
RNA5SP410
Taille : 105 bases
Localisation : 34,980,360 - 34,980,465
RNA5SP411
Taille : 113 bases
Localisation : 34,980,894 - 34,981,007
RNA5SP412
Taille : 122 bases
Localisation : 34,981,143 - 34,981,265
RNA5SP413
Taille : 108 bases
Localisation : 34,981,403 - 34,981,511
RNA5SP414
Taille : 135 bases
Localisation : 34,982,891 - 34,983,026
RNA5SP415
Taille : 114 bases
Localisation : 34,984,432 - 34,984,546
RNA5SP416
Taille : 110 bases
Localisation : 34,985,945 - 34,986,055
RNA5SP417
Taille : 107 bases
Localisation : 34,986,199 - 34,986,306
RNA5SP418
Taille : 116 bases
Localisation : 34,987,197 - 34,987,313
RNA5SP419
Taille : 134 bases
Localisation : 34,988,167 - 34,988,301
RNA5SP420
Taille : 136 bases
Localisation : 34,988,417 - 34,988,553
RNA5SP421
Taille : 133 bases
Localisation : 34,988,926 - 34,989,059
RNA5SP422
Taille : 110 bases
Localisation : 34,989,294 - 34,989,404
RNA5SP423
Taille : 108 bases
Localisation : 34,989,548 - 34,989,656
ENSG00000260611
Taille : 1,318 bases
Localisation : 35,019,940 - 35,021,258
HMGN2P41
Taille : 411 bases
Localisation : 35,037,240 - 35,037,651
VN1R70P
Taille : 846 bases
Localisation : 35,071,257 - 35,072,103
ENSG00000261782
Taille : 462 bases
Localisation : 35,113,407 - 35,113,869
NOVEL
Taille : 109 bases
Localisation : 35,136,344 - 35,136,453
ENSG00000279666
Taille : 1,799 bases
Localisation : 35,137,488 - 35,139,287
PPP1R1AP2
Taille : 396 bases
Localisation : 35,146,491 - 35,146,887
0 ClinGen CNV chevauché(s) (>=70% seulement)
0 Bénin CNV 0 Probablement bénin CNV 0 Incertain CNV 0 Probablement pathogénique CNV 0 Pathogénique CNV
0 Decipher CNV chevauché(s) (>=70% seulement)
0 Bénin CNV 0 Inconnu CNV 0 Incertain CNV 0 Pathogénique CNV
8 Gène(s) dans la base SFARI
0 DGV-Gold chévauché(s) (>=50% seulement)
0 DGV chevauché(s) (>=50% seulement)
0 Cas Patient (>=70% seulement)
0 Cas Contrôle (>=70% seulement)
38 Gène(s) dans la base PanelApp
| Confiance | Maladie | Transmission héréditaire | Phénotype | Preuve |
|---|---|---|---|---|
| Basse | Severe multi-system atopic disease with high IgE |
- [IgE, elevated level of], 147050Immunodeficiency, primary, autosomal recessive, IL21R-related, 615207 |
- Radboud University Medical Center, Nijmegen |
|
| Haute | COVID-19 research | BIALLELIC, autosomal or pseudoautosomal |
- Immunodeficiency 56, OMIM:615207 - Atypical Severe Combined Immunodeficiency (Atypical SCID) - Combined immunodeficiency - Omenn syndrome - Recurrent infections, Pneumocystis jiroveci, Cryptosporidium infections and liver disease - Immunodeficiencies affecting cellular and humoral immunity |
- IUIS Classification February 2018 - London North GLH - NHS GMS - GRID V2.0 - Victorian Clinical Genetics Services - North West GLH - ESID Registry 20171117 - Expert Review Green - NHS GMS - North West GLH - London North GLH - IUIS Classification February 2018 - Victorian Clinical Genetics Services - Expert Review Green - ESID Registry 20171117 - GRID V2.0 |
| Haute | Primary immunodeficiency or monogenic inflammatory bowel disease | BIALLELIC, autosomal or pseudoautosomal |
- Immunodeficiency 56, OMIM:615207 |
- Expert Review Green - Other - NHS GMS - North West GLH - London North GLH - IUIS Classification February 2018 - Victorian Clinical Genetics Services - ESID Registry 20171117 - GRID V2.0 |
| Confiance | Maladie | Transmission héréditaire | Phénotype | Preuve |
|---|---|---|---|---|
| Haute | IUGR and IGF abnormalities | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
- Floating-Harbor syndrome, 136140 |
- Expert Review Green - Emory Genetics Laboratory |
| Moyenne | Autism |
- Expert Review Amber - SFARI |
||
| Haute | Fetal anomalies | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
- FLOATING-HARBOR SYNDROME |
- PAGE DD-Gene2Phenotype - Expert Review Green |
| Basse | Rare syndromic craniosynostosis or isolated multisuture synostosis | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
- Literature |
|
| Basse | Osteogenesis imperfecta |
- Proportionate Short Stature/Small for Gestational Age |
- Expert Review Removed - Emory Genetics Laboratory |
|
| Haute | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
- FLOATING-HARBOR SYNDROME 136140 |
- DD-Gene2Phenotype - Expert Review Green |
| Haute | Growth failure in early childhood | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
- Floating Harbor - Floating-Harbor syndrome, 136140 |
- Expert list - Expert Review Green |
| Haute | Intellectual disability - microarray and sequencing | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
- Floating-Harbor syndrome, 136140 - FLOATING-HARBOR SYNDROME |
- Victorian Clinical Genetics Services - Expert Review Green - Radboud University Medical Center, Nijmegen |
| Haute | Severe Paediatric Disorders | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
- Floating-Harbor syndrome, 136140 |
- Next Generation Children Project - Expert Review Green - Expert list |
| Confiance | Maladie | Transmission héréditaire | Phénotype | Preuve |
|---|---|---|---|---|
| Moyenne | COVID-19 research | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
- Systemic lupus erythematous |
- Expert Review Amber - GRID V2.0 - Victorian Clinical Genetics Services - Victorian Clinical Genetics Services - GRID V2.0 |
| Basse | Primary immunodeficiency or monogenic inflammatory bowel disease | Unknown |
- Systemic lupus erythematous |
- Expert Review Red - Victorian Clinical Genetics Services - GRID V2.0 |
| Confiance | Maladie | Transmission héréditaire | Phénotype | Preuve |
|---|---|---|---|---|
| Basse | Hyperammonaemia |
- Emory Genetics Laboratory |
||
| Basse | Glaucoma (developmental) |
- Eye Disorders |
- NHS GMS - Emory Genetics Laboratory |
|
| Basse | Parkinson Disease and Complex Parkinsonism | BIALLELIC, autosomal or pseudoautosomal |
- Ceroid lipofuscinosis, neuronal, 3 MIM#204200 |
- Expert list |
| Haute | Lysosomal storage disorder | BIALLELIC, autosomal or pseudoautosomal |
- Ceroid lipofuscinosis, neuronal, 3 OMIM:204200 - neuronal ceroid lipofuscinosis 3 MONDO:0008767 |
- NHS GMS - Wessex and West Midlands GLH - Expert Review Green - North London GLH |
| Haute | Neuronal ceroid lipofuscinosis | BIALLELIC, autosomal or pseudoautosomal |
- Ceroid lipofuscinosis, neuronal, 3 OMIM:204200 - neuronal ceroid lipofuscinosis 3 MONDO:0008767 |
- NHS GMS - London North GLH - Expert Review Green |
| Haute | Undiagnosed metabolic disorders | BIALLELIC, autosomal or pseudoautosomal |
- Ceroid lipofuscinosis, neuronal, 3 204200 |
- Expert Review Green - Illumina TruGenome Clinical Sequencing Services - Radboud University Medical Center, Nijmegen - UKGTN - Emory Genetics Laboratory - Literature |
| Haute | Likely inborn error of metabolism - targeted testing not possible | BIALLELIC, autosomal or pseudoautosomal |
- Ceroid lipofuscinosis, neuronal, 3, 204200 |
- London North GLH - NHS GMS - Expert Review Green |
| Basse | Fetal anomalies | BIALLELIC, autosomal or pseudoautosomal |
- NEURONAL CEROID LIPOFUSCINOSIS TYPE 3 |
- Expert Review Red - PAGE DD-Gene2Phenotype |
| Haute | DDG2P | BIALLELIC, autosomal or pseudoautosomal |
- NEURONAL CEROID LIPOFUSCINOSIS TYPE 3 204200 |
- DD-Gene2Phenotype - Expert Review Green |
| Haute | Early onset or syndromic epilepsy | BIALLELIC, autosomal or pseudoautosomal |
- Ceroid lipofuscinosis, neuronal, 3 204200 |
- Wessex and West Midlands GLH - NHS GMS - Expert Review Green - Victorian Clinical Genetics Services - Expert |
| Haute | Intellectual disability - microarray and sequencing | BIALLELIC, autosomal or pseudoautosomal |
- Ceroid lipofuscinosis, neuronal, 3, 204200 - NEURONAL CEROID LIPOFUSCINOSIS TYPE 3 (CLN3) |
- Victorian Clinical Genetics Services - Expert Review Green - Radboud University Medical Center, Nijmegen |
| Haute | Retinal disorders | BIALLELIC, autosomal or pseudoautosomal |
- Eye Disorders - Retinitis pigmentosa |
- NHS GMS - Expert Review Green |
| Basse | Structural eye disease | BIALLELIC, autosomal or pseudoautosomal |
- Ceroid lipofuscinosis, neuronal, 3, 204200 - Eye Disorders |
- NHS GMS - Expert Review Red |
| Haute | Childhood onset dystonia, chorea or related movement disorder | BIALLELIC, autosomal or pseudoautosomal |
- Ceroid lipofuscinosis, neuronal, 3, 204200 |
- Expert Review Green - London North GLH |
| Haute | Severe Paediatric Disorders | BIALLELIC, autosomal or pseudoautosomal |
- Ceroid lipofuscinosis, neuronal, 3, 204200 |
- Next Generation Children Project - Expert Review Green - Expert list |
| Haute | Severe Paediatric Disorders | BIALLELIC, autosomal or pseudoautosomal |
- Ceroid lipofuscinosis, neuronal, 3, 204200 |
- Next Generation Children Project - Expert Review Green - Expert list |
| Confiance | Maladie | Transmission héréditaire | Phénotype | Preuve |
|---|---|---|---|---|
| Moyenne | Intellectual disability - microarray and sequencing | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
- Intellectual disability - Macrocephaly |
- Expert Review Amber - Literature |
| Confiance | Maladie | Transmission héréditaire | Phénotype | Preuve |
|---|---|---|---|---|
| Haute | White matter disorders and cerebral calcification - narrow panel | BIALLELIC, autosomal or pseudoautosomal |
- Mitochondrial Leukoencephalopathy - Combined oxidative phosphorylation deficiency 4, OMIM:610678 |
- Expert Review Green - NHS GMS |
| Moyenne | Inherited white matter disorders | BIALLELIC, autosomal or pseudoautosomal |
- Mitochondrial Leukoencephalopathy |
- Expert Review Amber - Expert list |
| Haute | Undiagnosed metabolic disorders | BIALLELIC, autosomal or pseudoautosomal |
- Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) - Combined oxidative phosphorylation deficiency 4 610678 |
- Expert Review Green - Literature |
| Haute | Likely inborn error of metabolism - targeted testing not possible | BIALLELIC, autosomal or pseudoautosomal |
- Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) - Multiple respiratory chain complex deficiencies (disorders of protein synthesis) - Combined oxidative phosphorylation deficiency 4 610678 - Combined oxidative phosphorylation deficiency 4, 610678 |
- Expert Review Green - Expert Review Green - London North GLH - NHS GMS - Victorian Clinical Genetics Services |
| Haute | Possible mitochondrial disorder - nuclear genes | BIALLELIC, autosomal or pseudoautosomal |
- Combined oxidative phosphorylation deficiency 4, 610678 |
- Expert Review Green - NHS GMS |
| Moyenne | Fetal anomalies | BIALLELIC, autosomal or pseudoautosomal |
- COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4 |
- Expert Review Amber - PAGE DD-Gene2Phenotype |
| Haute | DDG2P | BIALLELIC, autosomal or pseudoautosomal |
- COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4 610678 |
- Expert Review Green - DD-Gene2Phenotype |
| Basse | Intellectual disability - microarray and sequencing | BIALLELIC, autosomal or pseudoautosomal |
- Combined oxidative phosphorylation deficiency 4, 610678 |
- Expert Review Red |
| Haute | Mitochondrial disorders | BIALLELIC, autosomal or pseudoautosomal |
- Combined oxidative phosphorylation deficiency 4 610678 |
- Expert Review Green - Victorian Clinical Genetics Services - Radboud University Medical Center, Nijmegen - Expert list - Expert |
| Basse | Childhood onset dystonia, chorea or related movement disorder |
- Expert Review Red - London North GLH |
||
| Haute | Severe Paediatric Disorders | BIALLELIC, autosomal or pseudoautosomal |
- Combined oxidative phosphorylation deficiency 4, 610678 |
- Next Generation Children Project - Expert Review Green - Expert list |
| Confiance | Maladie | Transmission héréditaire | Phénotype | Preuve |
|---|---|---|---|---|
| Moyenne | Severe early-onset obesity | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
- obesity - Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency, MONDO:0017994 |
- Expert Review Amber - Expert list |
| Confiance | Maladie | Transmission héréditaire | Phénotype | Preuve |
|---|---|---|---|---|
| Haute | Skeletal Muscle Channelopathies | BIALLELIC, autosomal or pseudoautosomal |
- Brody myopathy 601003 |
- Expert Review Green - Expert list |
| Basse | Other rare neuromuscular disorders | BIALLELIC, autosomal or pseudoautosomal |
- Brody myopathy, 601003 - Brody Myopathy |
- Expert Review Red |
| Basse | Paroxysmal central nervous system disorders | BIALLELIC, autosomal or pseudoautosomal |
- Brody myopathy, 601003 |
- Expert Review Red - NHS GMS - London North GLH - Wessex and West Midlands GLH |
| Basse | Arthrogryposis | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
- Brody Myopathy - Brody myopathy, 601003 |
- Expert Review Red - Illumina TruGenome Clinical Sequencing Services - Emory Genetics Laboratory - Radboud University Medical Center, Nijmegen |
| Basse | Congenital myopathy | BIALLELIC, autosomal or pseudoautosomal |
- Brody myopathy, OMIM:601003 |
- Expert Review Red - Radboud University Medical Center, Nijmegen - Emory Genetics Laboratory - Illumina TruGenome Clinical Sequencing Services |
| Haute | Skeletal muscle channelopathy | BIALLELIC, autosomal or pseudoautosomal |
- Brody myopathy OMIM:601003 |
- NHS GMS - Expert Review Green - London North GLH |
| Basse | Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies | BIALLELIC, autosomal or pseudoautosomal |
- Brody myopathy, 601003 |
- Expert Review Red - NHS GMS - Yorkshire and North East GLH - Expert Review |
| Haute | Severe Paediatric Disorders | BIALLELIC, autosomal or pseudoautosomal |
- Brody myopathy, 601003 |
- Next Generation Children Project - Expert Review Green - Expert list |
| Haute | Severe Paediatric Disorders | BIALLELIC, autosomal or pseudoautosomal |
- Brody myopathy, 601003 |
- Next Generation Children Project - Expert Review Green - Expert list |
| Confiance | Maladie | Transmission héréditaire | Phénotype | Preuve |
|---|---|---|---|---|
| Haute | COVID-19 research | BIALLELIC, autosomal or pseudoautosomal |
- Immunodeficiency, common variable, 3 - Isolated IgG subclass deficiency - Recurrent infections, may have glomerulonephritis - Immunodeficiency, common variable, 3 613493 - Common variable immunodeficiency disorders (CVID) - Predominantly Antibody Deficiencies - hypogammaglobulinemia |
- IUIS Classification February 2018 - A- or hypo-gammaglobulinaemia v1.25 - London North GLH - NHS GMS - GRID V2.0 - Victorian Clinical Genetics Services - North West GLH - ESID Registry 20171117 - Expert Review Green - NHS GMS - North West GLH - London North GLH - IUIS Classification February 2018 - Victorian Clinical Genetics Services - Expert Review Green - ESID Registry 20171117 - GRID V2.0 - A- or hypo-gammaglobulinaemia v1.25 |
| Haute | Primary immunodeficiency or monogenic inflammatory bowel disease | BIALLELIC, autosomal or pseudoautosomal |
- Immunodeficiency, common variable, 3 613493 - hypogammaglobulinemia - Immunodeficiency, common variable, 3 - Common variable immunodeficiency disorders (CVID) - Isolated IgG subclass deficiency - Recurrent infections, may have glomerulonephritis - Predominantly Antibody Deficiencies |
- NHS GMS - North West GLH - London North GLH - IUIS Classification February 2018 - Victorian Clinical Genetics Services - Expert Review Green - ESID Registry 20171117 - GRID V2.0 - A- or hypo-gammaglobulinaemia v1.25 |
| Haute | Severe Paediatric Disorders | BIALLELIC, autosomal or pseudoautosomal |
- Immunodeficiency, common variable, 3, 613493 |
- Next Generation Children Project - Expert Review Green - Expert list |
| Haute | Severe Paediatric Disorders | BIALLELIC, autosomal or pseudoautosomal |
- Immunodeficiency, common variable, 3, 613493 |
- Next Generation Children Project - Expert Review Green - Expert list |
| Haute | Severe Paediatric Disorders | BIALLELIC, autosomal or pseudoautosomal |
- Immunodeficiency, common variable, 3, 613493 |
- Next Generation Children Project - Expert Review Green - Expert list |
| Confiance | Maladie | Transmission héréditaire | Phénotype | Preuve |
|---|---|---|---|---|
| Haute | COVID-19 research | BIALLELIC, autosomal or pseudoautosomal |
- Immunodeficiencies affecting cellular and humoral immunity - Immunodeficiency 52, 617514 - Adenopathy, splenomegaly, recurrent infections, autoimmunity |
- IUIS Classification February 2018 - SCID v1.6 - A- or hypo-gammaglobulinaemia v1.25 - London North GLH - NHS GMS - North West GLH - Combined B and T cell defect v1.12 - Expert Review Green - NHS GMS - North West GLH - London North GLH - Expert Review Green - IUIS Classification February 2018 - SCID v1.6 - Combined B and T cell defect v1.12 - A- or hypo-gammaglobulinaemia v1.25 |
| Moyenne | Inherited bleeding disorders | BIALLELIC, autosomal or pseudoautosomal |
- Immunodeficiency 52, 617514 |
- Expert Review Amber - Other |
| Haute | Primary immunodeficiency or monogenic inflammatory bowel disease | BIALLELIC, autosomal or pseudoautosomal |
- Immunodeficiency 52, 617514 - Adenopathy, splenomegaly, recurrent infections, autoimmunity - Immunodeficiencies affecting cellular and humoral immunity |
- Expert Review Green - Other - NHS GMS - North West GLH - London North GLH - IUIS Classification February 2018 - SCID v1.6 - Combined B and T cell defect v1.12 - A- or hypo-gammaglobulinaemia v1.25 |
| Moyenne | Cytopenias and congenital anaemias | BIALLELIC, autosomal or pseudoautosomal |
- Immunodeficiency 52, 617514 |
- Expert Review Amber - Other |
| Moyenne | Cytopenia - NOT Fanconi anaemia | BIALLELIC, autosomal or pseudoautosomal |
- Immunodeficiency 52, 617514 |
- North West GLH - NHS GMS - Expert Review Amber - Wessex and West Midlands GLH |
| Haute | Severe Paediatric Disorders | BIALLELIC, autosomal or pseudoautosomal |
- Immunodeficiency 52, 617514 |
- Next Generation Children Project - Expert Review Green - Expert list |
| Confiance | Maladie | Transmission héréditaire | Phénotype | Preuve |
|---|---|---|---|---|
| Basse | Likely inborn error of metabolism - targeted testing not possible | Unknown |
- No OMIM phenotype |
- Expert Review Red |
| Basse | Mitochondrial disorders |
- No OMIM phenotype |
- Expert Review Red - Radboud University Medical Center, Nijmegen |
| Confiance | Maladie | Transmission héréditaire | Phénotype | Preuve |
|---|---|---|---|---|
| Haute | Skeletal dysplasia | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
- Spondyloepimetaphyseal dysplasia with joint laxity, type 2 603546 |
- NHS GMS - Expert Review Green - Radboud University Medical Center, Nijmegen - Emory Genetics Laboratory - Expert list - UKGTN - |
| Haute | Fetal anomalies | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
- SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2 |
- PAGE DD-Gene2Phenotype - Expert Review Green |
| Basse | Osteogenesis imperfecta |
- Disproportionate Short Stature |
- Expert Review Removed - Emory Genetics Laboratory |
|
| Haute | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
- SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2 603546 |
- DD-Gene2Phenotype - Expert Review Green |
| Basse | Clefting | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
- Spondyloepimetaphyseal dysplasia with joint laxity, type 2, 603546 - SEMDJL2 |
- Expert Review Red |
| Basse | Intellectual disability - microarray and sequencing | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
- Spondyloepimetaphyseal dysplasia with joint laxity, type 2, 603546 |
- Expert Review Red - BRIDGE study SPEED NEURO Tier1 Gene |
| Confiance | Maladie | Transmission héréditaire | Phénotype | Preuve |
|---|---|---|---|---|
| Haute | Brain channelopathy | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
- CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS - EPISODIC KINESIGENIC DYSKINESIA 1 - SEIZURES, BENIGN FAMILIAL INFANTILE, 2 - episodic kinesigenic dyskinesia - dystonia and occasionally hemiplegic migraine and epilepsy |
- Expert Review Green - UKGTN - Eligibility statement prior genetic testing |
| Haute | Early onset dystonia | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
- Episodic kinesigenic dyskinesia 1, 128200 - Paroxysmal kinesigenic choreoathetosis (PKD1) and infantile convulsions |
- Expert Review Green - Expert - Emory Genetics Laboratory - Radboud University Medical Center, Nijmegen - UKGTN |
| Haute | Ataxia and cerebellar anomalies - narrow panel | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
- Convulsions, familial infantile, with paroxysmal choreoathetosis, 602066 - Episodic kinesigenic dyskinesia 1, 128200 - Seizures, benign familial infantile, 2, 605751 |
- Expert Review Green |
| Haute | Hereditary ataxia | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
- Convulsions, familial infantile, with paroxysmal choreoathetosis, 602066 - Episodic kinesigenic dyskinesia 1, 128200 - Seizures, benign familial infantile, 2, 605751 |
- Expert Review Green - UKGTN |
| Haute | Paroxysmal central nervous system disorders | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
- Seizures, benign familial infantile, 2, 605751 - dystonia and occasionally hemiplegic migraine and epilepsy - Episodic kinesigenic dyskinesia 1, 128200 - Convulsions, familial infantile, with paroxysmal choreoathetosis, 602066 |
- Expert Review Green - NHS GMS - London North GLH - Wessex and West Midlands GLH |
| Basse | Adult onset neurodegenerative disorder | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
- dystonia and occasionally hemiplegic migraine and epilepsy - episodic kinesigenic dyskinesia - EPISODIC KINESIGENIC DYSKINESIA 1 - CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS - Paroxysmal kinesigenic choreoathetosis (PKD1) and infantile convulsions - SEIZURES, BENIGN FAMILIAL INFANTILE, 2 - Episodic kinesigenic dyskinesia 1, 128200 |
- Expert Review Red - Wessex and West Midlands GLH - Yorkshire and North East GLH - NHS GMS - London North GLH |
| Basse | Fetal anomalies | BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
- BENIGN FAMILIAL INFANTILE EPILEPSY AND INFANTILE CONVULSIONS WITH CHOREOATHETOSIS SYNDROME - AUTOSOMAL RECESSIVE MENTAL RETARDATION |
- Expert Review Red - PAGE DD-Gene2Phenotype |
| Haute | DDG2P | BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
- AUTOSOMAL RECESSIVE MENTAL RETARDATION - BENIGN FAMILIAL INFANTILE EPILEPSY AND INFANTILE CONVULSIONS WITH CHOREOATHETOSIS SYNDROME 602066 |
- DD-Gene2Phenotype - Expert Review Green |
| Haute | Early onset or syndromic epilepsy | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
- Convulsions, familial infantile, with paroxysmal choreoathetosis - Episodic kinesigenic dyskinesia 1 - Seizures, benign familial infantile, 2 - BENIGN FAMILIAL INFANTILE EPILEPSY AND INFANTILE CONVULSIONS WITH CHOREOATHETOSIS SYNDROME |
- Wessex and West Midlands GLH - NHS GMS - NIHRBR-RD Consortium SPEED_v3.0_20170404 - Victorian Clinical Genetics Services - Expert Review Green - UKGTN - Expert |
| Moyenne | Intellectual disability - microarray and sequencing | BIALLELIC, autosomal or pseudoautosomal |
- Epilepsy - mental retardation - movement disorders - paroxysmal disorder - Autosomal recessive mental retardation |
- Expert Review Amber |
| Haute | Hereditary ataxia with onset in adulthood | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
- CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS - SEIZURES, BENIGN FAMILIAL INFANTILE, 2 - EPISODIC KINESIGENIC DYSKINESIA 1 - Familial infantile convulsions with paroxysmal dyskinesia 1, 602066 - dystonia and occasionally hemiplegic migraine and epilepsy - episodic kinesigenic dyskinesia - episodic kinesigenic dyskinesia, 128200 |
- London North GLH - NHS GMS - Wessex and West Midlands GLH - Expert Review Green - Brain channelopathy v1.46 - Hereditary ataxia v1.148 |
| Haute | Adult onset dystonia, chorea or related movement disorder | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
- Episodic kinesigenic dyskinesia 1, OMIM:128200 - Convulsions, familial infantile, with paroxysmal choreoathetosis, OMIM:602066 |
- NHS GMS - London North GLH - Expert Review Green |
| Haute | Childhood onset dystonia, chorea or related movement disorder | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
- Convulsions, familial infantile, with paroxysmal choreoathetosis, 602066 - Episodic kinesigenic dyskinesia 1, 128200 - dystonia and occasionally hemiplegic migraine and epilepsy - Paroxysmal kinesigenic choreoathetosis (PKD1) and infantile convulsions - episodic kinesigenic dyskinesia |
- PanelApp - Expert Review Green - London North GLH |
| Haute | Childhood onset dystonia, chorea or related movement disorder | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
- Convulsions, familial infantile, with paroxysmal choreoathetosis, 602066 - Episodic kinesigenic dyskinesia 1, 128200 - dystonia and occasionally hemiplegic migraine and epilepsy - Paroxysmal kinesigenic choreoathetosis (PKD1) and infantile convulsions - episodic kinesigenic dyskinesia |
- PanelApp - Expert Review Green - London North GLH |
| Haute | Childhood onset dystonia, chorea or related movement disorder | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
- Convulsions, familial infantile, with paroxysmal choreoathetosis, 602066 - Episodic kinesigenic dyskinesia 1, 128200 - dystonia and occasionally hemiplegic migraine and epilepsy - Paroxysmal kinesigenic choreoathetosis (PKD1) and infantile convulsions - episodic kinesigenic dyskinesia |
- PanelApp - Expert Review Green - London North GLH |
| Haute | Recurrent episodic apnoea | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
- Convulsions, familial infantile, with paroxysmal choreoathetosis, OMIM:602066 - infantile convulsions and choreoathetosis, MONDO:0011178 - Episodic kinesigenic dyskinesia 1, OMIM:128200 - episodic kinesigenic dyskinesia 1, MONDO:0100352 - Seizures, benign familial infantile, 2, OMIM: 605751 - seizures, benign familial infantile, 2, MONDO:0011593 |
- Expert Review Green - Expert list |
| Confiance | Maladie | Transmission héréditaire | Phénotype | Preuve |
|---|---|---|---|---|
| Haute | Ketotic hypoglycaemia | BIALLELIC, autosomal or pseudoautosomal |
- Glycogen storage disease XII, 611881 - Glycogen Storage Disease |
- Expert Review Green - Radboud University Medical Center, Nijmegen - UKGTN |
| Haute | Rhabdomyolysis and metabolic muscle disorders | BIALLELIC, autosomal or pseudoautosomal |
- Glycogen storage disease XII, OMIM:611881 |
- Expert Review Green - Illumina TruGenome Clinical Sequencing Services - Radboud University Medical Center, Nijmegen - UKGTN |
| Haute | Other rare neuromuscular disorders | BIALLELIC, autosomal or pseudoautosomal |
- Glycogen storage disease XII |
- Expert Review Green |
| Haute | Glycogen storage disease | BIALLELIC, autosomal or pseudoautosomal |
- Glycogen storage disease XII 611881 |
- NHS GMS - Wessex and West Midlands GLH - London North GLH - Expert Review Green |
| Haute | Cytopenias and congenital anaemias | BIALLELIC, autosomal or pseudoautosomal |
- Enzyme Disorder - Glycogen storage disease - Glycogen storage disease XII, 611881 - Aldolase A deficiency - Glycogen storage disease due to aldolase A deficiency |
- Expert Review Green - Radboud University Medical Center, Nijmegen - Illumina TruGenome Clinical Sequencing Services - BRIDGE consortium (NIHRBR-RD) |
| Haute | Rare anaemia | BIALLELIC, autosomal or pseudoautosomal |
- Glycogen storage disease due to aldolase A deficiency - 611881 Aldolase A deficiency - Enzyme Disorder - Aldolase A deficiency - Glycogen storage disease XII, 611881 - 611881 Glycogen storage disease XII - Glycogen storage disease |
- North West GLH - Yorkshire and North East GLH - London South GLH - NHS GMS - Expert Review Green - Wessex and West Midlands GLH |
| Haute | Undiagnosed metabolic disorders | BIALLELIC, autosomal or pseudoautosomal |
- Aldolase A deficiency (Glycogen storage disorders) - Glycogen storage disease XII, 611881 - Glycogen Storage Disease |
- Expert Review Green - Literature |
| Haute | Likely inborn error of metabolism - targeted testing not possible | BIALLELIC, autosomal or pseudoautosomal |
- Glycogen Storage Disease - Aldolase A deficiency (Glycogen storage disorders) - Glycogen storage disease XII, 611881 |
- London North GLH - NHS GMS - Expert Review Green |
| Haute | Fetal anomalies | BIALLELIC, autosomal or pseudoautosomal |
- GLYCOGEN STORAGE DISEASE XII |
- PAGE DD-Gene2Phenotype - Expert Review Green |
| Haute | DDG2P | BIALLELIC, autosomal or pseudoautosomal |
- GLYCOGEN STORAGE DISEASE XII 611881 |
- DD-Gene2Phenotype - Expert Review Green |
| Moyenne | Intellectual disability - microarray and sequencing | BIALLELIC, autosomal or pseudoautosomal |
- Gene2Phenotype confirmed gene with ID HPO |
- Expert Review Amber - Expert Review Amber - BRIDGE study SPEED NEURO Tier1 Gene |
| Haute | Acute rhabdomyolysis | BIALLELIC, autosomal or pseudoautosomal |
- Glycogen storage disease XII, OMIM:611881 |
- NHS GMS - Expert Review Green |
| Confiance | Maladie | Transmission héréditaire | Phénotype | Preuve |
|---|---|---|---|---|
| Basse | Familial Neural Tube Defects |
- Spondylocostal Dysostosis |
- UKGTN |
|
| Haute | Skeletal dysplasia | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
- Spondylocostal dysostosis 5 122600 - Spondylocostal dysostosis 5 122600 |
- NHS GMS - Expert Review Green - |
| Haute | Fetal anomalies | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
- Spondylocostal dysostosis 5 122600 |
- PAGE Additional Gene List - Expert Review Green |
| Haute | Severe Paediatric Disorders | BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
- Spondylocostal dysostosis 5, 122600 |
- Next Generation Children Project - Expert Review Green - Expert list |
| Confiance | Maladie | Transmission héréditaire | Phénotype | Preuve |
|---|---|---|---|---|
| Haute | COVID-19 research | BIALLELIC, autosomal or pseudoautosomal |
- Combined immunodeficiency - Immunodeficiency 8 - hypogammaglobulinaemia, combined immunodeficiency - Coronin-1A deficiency - Atypical Severe Combined Immunodeficiency (Atypical SCID) - Detectable thymus, EBV - Immunodeficiencies affecting cellular and humoral immunity - Omenn syndrome - Severe combined immunodeficiency (SCID) |
- IUIS Classification February 2018 - London North GLH - GOSH PID v.8.0 - NHS GMS - GRID V2.0 - Victorian Clinical Genetics Services - North West GLH - ESID Registry 20171117 - Combined B and T cell defect v1.12 - Expert Review Green - NHS GMS - North West GLH - London North GLH - IUIS Classification February 2018 - Victorian Clinical Genetics Services - Expert Review Green - ESID Registry 20171117 - GRID V2.0 - GOSH PID v.8.0 - Combined B and T cell defect v1.12 |
| Moyenne | Epidermodysplasia verruciformis | BIALLELIC, autosomal or pseudoautosomal |
- Expert Review Amber |
|
| Haute | Primary immunodeficiency or monogenic inflammatory bowel disease | BIALLELIC, autosomal or pseudoautosomal |
- Immunodeficiency 8 - Combined immunodeficiency - hypogammaglobulinaemia, combined immunodeficiency - Coronin-1A deficiency - Atypical Severe Combined Immunodeficiency (Atypical SCID) - Severe combined immunodeficiency (SCID) - Omenn syndrome - Detectable thymus, EBV - Immunodeficiencies affecting cellular and humoral immunity |
- Expert Review Green - Other - NHS GMS - North West GLH - London North GLH - IUIS Classification February 2018 - Victorian Clinical Genetics Services - ESID Registry 20171117 - GRID V2.0 - GOSH PID v.8.0 - Combined B and T cell defect v1.12 |
| Haute | Severe Paediatric Disorders | BIALLELIC, autosomal or pseudoautosomal |
- Immunodeficiency 8, 615401 |
- Next Generation Children Project - Expert Review Green - Expert list |
| Haute | Severe Paediatric Disorders | BIALLELIC, autosomal or pseudoautosomal |
- Immunodeficiency 8, 615401 |
- Next Generation Children Project - Expert Review Green - Expert list |
| Confiance | Maladie | Transmission héréditaire | Phénotype | Preuve |
|---|---|---|---|---|
| Haute | Ketotic hypoglycaemia | BIALLELIC, autosomal or pseudoautosomal |
- hepatomegaly and variable myopathy - Glycogen storage disease IXc, 613027 - Cirrhosis due to liver phosphorylase kinase deficiency - Glycogen Storage Disorders- Liver - Glycogen Storage Disease |
- Expert Review Green - UKGTN - Emory Genetics Laboratory - Radboud University Medical Center, Nijmegen - Literature |
| Haute | Glycogen storage disease | BIALLELIC, autosomal or pseudoautosomal |
- Glycogen storage disease IXc 613027 |
- NHS GMS - Wessex and West Midlands GLH - London North GLH - Expert Review Green |
| Haute | Undiagnosed metabolic disorders | BIALLELIC, autosomal or pseudoautosomal |
- Glycogen storage disease type IX Hepatic phosphorylase kinase deficiency with cirrhosis (Glycogen storage disorders) - hepatomegaly and variable myopathy - Glycogen storage disease IXc, 613027 - Cirrhosis due to liver phosphorylase kinase deficiency - Glycogen Storage Disorders- Liver - Glycogen Storage Disease |
- Expert Review Green - Literature |
| Haute | Likely inborn error of metabolism - targeted testing not possible | BIALLELIC, autosomal or pseudoautosomal |
- hepatomegaly and variable myopathy - Glycogen Storage Disorders- Liver - Glycogen Storage Disease - Glycogen storage disease IXc, 613027 - Glycogen storage disease type IX Hepatic phosphorylase kinase deficiency with cirrhosis (Glycogen storage disorders) - Cirrhosis due to liver phosphorylase kinase deficiency |
- London North GLH - NHS GMS - Expert Review Green |
| Basse | Intellectual disability - microarray and sequencing |
- Victorian Clinical Genetics Services |
||
| Basse | Childhood onset dystonia, chorea or related movement disorder |
- Expert Review Red - London North GLH |
||
| Basse | Childhood onset dystonia, chorea or related movement disorder |
- Expert Review Red - London North GLH |
| Confiance | Maladie | Transmission héréditaire | Phénotype | Preuve |
|---|---|---|---|---|
| Basse | Dilated Cardiomyopathy and conduction defects | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
- South West GLH - Expert list - Illumina TruGenome Clinical Sequencing Services |
|
| Basse | Paediatric or syndromic cardiomyopathy | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
- NHS GMS - South West GLH - Expert Review Red |
| Confiance | Maladie | Transmission héréditaire | Phénotype | Preuve |
|---|---|---|---|---|
| Moyenne | Fetal anomalies | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
- INTELLECTUAL DISABILITY |
- Expert Review Amber - PAGE DD-Gene2Phenotype |
| Haute | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
- INTELLECTUAL DISABILITY |
- Expert Review Green - DD-Gene2Phenotype |
| Haute | Early onset or syndromic epilepsy | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
- Epilepsy, early-onset, with or without developmental delay, 618832 |
- Expert Review Green - Expert list |
| Haute | Intellectual disability - microarray and sequencing | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
- Neurodevelopmental disorder with speech impairment and dysmorphic facies, 619056 - Epilepsy, early-onset, with or without developmental delay, 618832 |
- Expert Review Green |
| Confiance | Maladie | Transmission héréditaire | Phénotype | Preuve |
|---|---|---|---|---|
| Haute | Neonatal cholestasis | BIALLELIC, autosomal or pseudoautosomal |
- Neonatal and Adult Cholestasis - Bile acid sythesis defect, congenital, 1 607765 |
- Expert Review Green - Victorian Clinical Genetics Services - UKGTN - Emory Genetics Laboratory |
| Haute | Cholestasis | BIALLELIC, autosomal or pseudoautosomal |
- Bile acid sythesis defect, congenital, 1 607765 - Neonatal and Adult Cholestasis |
- Expert Review Green - Other - NHS GMS |
| Haute | Undiagnosed metabolic disorders | BIALLELIC, autosomal or pseudoautosomal |
- 3- ?-hydroxysterol ?5-oxidoreductase/isomerase deficiency (Disorders of bile acid biosynthesis) - Bile acid synthesis defect, congenital, 1, 607765 |
- Expert Review Green - Literature |
| Haute | Likely inborn error of metabolism - targeted testing not possible | BIALLELIC, autosomal or pseudoautosomal |
- 3- ?-hydroxysterol ?5-oxidoreductase/isomerase deficiency (Disorders of bile acid biosynthesis) - Bile acid synthesis defect, congenital, 1, 607765 |
- London North GLH - NHS GMS - Expert Review Green |
| Basse | Fetal anomalies | BIALLELIC, autosomal or pseudoautosomal |
- BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1 |
- Expert Review Red - PAGE DD-Gene2Phenotype |
| Haute | DDG2P | BIALLELIC, autosomal or pseudoautosomal |
- BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1 607765 |
- DD-Gene2Phenotype - Expert Review Green |
| Basse | Intellectual disability - microarray and sequencing | BIALLELIC, autosomal or pseudoautosomal |
- Bile acid synthesis defect, congenital, 1, 607765 |
- Expert Review Red - BRIDGE study SPEED NEURO Tier1 Gene |
| Basse | Childhood onset dystonia, chorea or related movement disorder |
- Expert Review Red - London North GLH |
| Confiance | Maladie | Transmission héréditaire | Phénotype | Preuve |
|---|---|---|---|---|
| Moyenne | Fetal anomalies | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
- GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9 |
- Expert Review Amber - PAGE DD-Gene2Phenotype |
| Haute | DDG2P | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
- GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9 616172 |
- Expert Review Green - DD-Gene2Phenotype |
| Haute | Early onset or syndromic epilepsy | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
- Generalized epilepsy with febrile seizures plus, type 9, 616172 |
- Wessex and West Midlands GLH - NHS GMS - NIHRBR-RD Consortium SPEED_v3.0_20170404 - Victorian Clinical Genetics Services - Expert Review - Expert Review Green |
| Haute | Intellectual disability - microarray and sequencing | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
- GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9 |
- Victorian Clinical Genetics Services - Expert Review Green |
| Haute | Severe Paediatric Disorders | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
- Generalized epilepsy with febrile seizures plus, type 9, 616172 |
- Next Generation Children Project - Expert Review Green - Expert list |
| Haute | Severe Paediatric Disorders | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
- Generalized epilepsy with febrile seizures plus, type 9, 616172 |
- Next Generation Children Project - Expert Review Green - Expert list |
| Confiance | Maladie | Transmission héréditaire | Phénotype | Preuve |
|---|---|---|---|---|
| Moyenne | Severe microcephaly | BIALLELIC, autosomal or pseudoautosomal |
- DNA damage repair defect - microcephaly - growth deficiency - severe global developmental delay - brain malformation - facial dysmorphism |
- Literature - Expert Review Amber |
| Moyenne | Growth failure in early childhood | BIALLELIC, autosomal or pseudoautosomal |
- DNA damage repair defect - microcephaly - growth deficiency - severe global developmental delay - brain malformation - facial dysmorphism |
- Literature - Expert Review Amber |
| Moyenne | Intellectual disability - microarray and sequencing | BIALLELIC, autosomal or pseudoautosomal |
- DNA damage repair defect - microcephaly - growth deficiency - severe global developmental delay - brain malformation - facial dysmorphism |
- Expert Review Amber - Literature |
| Confiance | Maladie | Transmission héréditaire | Phénotype | Preuve |
|---|---|---|---|---|
| Haute | Inherited bleeding disorders | BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal |
- Vitamin K-dependent clotting factors, combined deficiency of, 2, OMIM:607473 |
- Expert Review Green - BRIDGE Study Tier 1 Gene |
| Haute | Bleeding and platelet disorders | BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal |
- Vitamin K-dependent clotting factors, combined deficiency of, 2, OMIM:607473 - Warfarin resistance, OMIM:122700 |
- North West GLH - Yorkshire and North East GLH - London South GLH - NHS GMS - Expert Review Green - Wessex and West Midlands GLH |
| Haute | Undiagnosed metabolic disorders | BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal |
- Vitamin K-dependent clotting factors, combined deficiency of, 2, OMIM:607473 |
- Expert Review Green - Literature |
| Haute | Likely inborn error of metabolism - targeted testing not possible | BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal |
- Vitamin K-dependent clotting factors, combined deficiency of, 2, OMIM:607473 |
- Expert Review Green - London North GLH - NHS GMS |
| Basse | Childhood onset dystonia, chorea or related movement disorder |
- Expert Review Red - London North GLH |
||
| Haute | Severe Paediatric Disorders | BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
- Vitamin K-dependent clotting factors, combined deficiency of, 2, 607473 - Warfarin resistance, 122700 |
- Next Generation Children Project - Expert Review Green - Expert list |
| Haute | Combined vitamin K-dependent clotting factor deficiency | BIALLELIC, autosomal or pseudoautosomal |
- NHS GMS - Expert Review Green |
| Confiance | Maladie | Transmission héréditaire | Phénotype | Preuve |
|---|---|---|---|---|
| Moyenne | Autism |
- Expert Review Amber - SFARI |
||
| Haute | Undiagnosed metabolic disorders | BIALLELIC, autosomal or pseudoautosomal |
- Branched-chain ketoacid dehydrogenase kinase deficiency 614923 |
- Expert Review Green - Emory Genetics Laboratory - Radboud University Medical Center, Nijmegen - Literature |
| Haute | Likely inborn error of metabolism - targeted testing not possible | BIALLELIC, autosomal or pseudoautosomal |
- Branched-chain ketoacid dehydrogenase kinase deficiency |
- Expert Review Green |
| Haute | Intellectual disability - microarray and sequencing | BIALLELIC, autosomal or pseudoautosomal |
- Branched-chain ketoacid dehydrogenase kinase deficiency, 614923 - Intellectual disability |
- Victorian Clinical Genetics Services - Expert Review Green - Literature |
| Haute | Severe Paediatric Disorders | BIALLELIC, autosomal or pseudoautosomal |
- Branched-chain ketoacid dehydrogenase kinase deficiency, 614923 |
- Next Generation Children Project - Expert Review Green - Expert list |
| Confiance | Maladie | Transmission héréditaire | Phénotype | Preuve |
|---|---|---|---|---|
| Haute | Early onset or syndromic epilepsy | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
- Li-Ghorgani-Weisz-Hubshman syndrome, OMIM:618974 - Global developmental delay - Intellectual disability - Seizures - Abnormality of vision - Feeding difficulties - Abnormality of the cardiovascular system - Autism |
- NHS GMS - Expert Review Green - Literature |
| Haute | Intellectual disability - microarray and sequencing | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
- Li-Ghorgani-Weisz-Hubshman syndrome, OMIM:618974 - Global developmental delay - Intellectual disability - Seizures - Abnormality of vision - Feeding difficulties - Abnormality of the cardiovascular system - Autism |
- NHS GMS - Expert Review Green - Literature |
| Confiance | Maladie | Transmission héréditaire | Phénotype | Preuve |
|---|---|---|---|---|
| Basse | Early onset dementia (encompassing fronto-temporal dementia and prion disease) |
- Dementia |
- Expert Review Red - UKGTN |
|
| Haute | Adult onset neurodegenerative disorder | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
- Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia, OMIM:608030 |
- Wessex and West Midlands GLH - Yorkshire and North East GLH - NHS GMS - London North GLH - Expert Review Green |
| Haute | Amyotrophic lateral sclerosis/motor neuron disease | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
- Amyotrophic lateral sclerosis 6, autosomal recessive, with or without frontotemporal - Amyotrophic Lateral Sclerosis, Dominant |
- Expert Review Green - Expert - Illumina TruGenome Clinical Sequencing Services - UKGTN - Radboud University Medical Center, Nijmegen |
| Confiance | Maladie | Transmission héréditaire | Phénotype | Preuve |
|---|---|---|---|---|
| Haute | Congenital myopathy | BIALLELIC, autosomal or pseudoautosomal |
- Mitochondrial complex IV deficiency, nuclear type 18, OMIM:619062 |
- Expert Review Green - NHS GMS |
| Haute | Mitochondrial disorder with complex IV deficiency | BIALLELIC, autosomal or pseudoautosomal |
- Mitochondrial complex IV deficiency, nuclear type 18, OMIM:619062 |
- Expert Review Green - NHS GMS |
| Haute | Possible mitochondrial disorder - nuclear genes | BIALLELIC, autosomal or pseudoautosomal |
- Mitochondrial complex IV deficiency, nuclear type 18, OMIM:619062 |
- Expert Review Green - NHS GMS |
| Haute | Mitochondrial disorders | BIALLELIC, autosomal or pseudoautosomal |
- Mitochondrial complex IV deficiency, nuclear type 18, OMIM:619062 |
- Expert Review Green - NHS GMS |
| Confiance | Maladie | Transmission héréditaire | Phénotype | Preuve |
|---|---|---|---|---|
| Haute | Primary pigmented nodular adrenocortical disease | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
- ACTH-independent macronodular adrenal hyperplasia 2, OMIM:615954 |
- Expert Review Green - Expert list |
| Confiance | Maladie | Transmission héréditaire | Phénotype | Preuve |
|---|---|---|---|---|
| Haute | Renal tubulopathies | BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
- Renal glucosuria, 233100 |
- Expert Review Green - NHS GMS |
| Basse | Intellectual disability - microarray and sequencing |
- Victorian Clinical Genetics Services |
Score ClassifyCNV ACMG
Pathogénique
ClassifyCNV Critères de ClassifyCNV ACMG
2A
+
1
Complete overlap of an established HI gene/genomic region.
2H
+
0.15
Multiple HI predictors suggest that AT LEAST ONE gene in the interval is haploinsufficient (HI).
3C
+
0.9
Number of protein-coding RefSeq genes wholly or partially included in the CNV region.
Score AnnotSV
Pathogénique
AnnotSV Critères de ClassifyCNV ACMG
2A
+
1
Complete overlap of an established HI gene/genomic region.
3C
+
0.9
Number of protein-coding RefSeq genes wholly or partially included in the CNV region.