ATP-BINDING CASSETTE, SUBFAMILY D, MEMBER 3
General Information (adopted from Orphanet):
| Synonyms, Signs: |
|
| Number of Symptoms | 43 |
| OrphanetNr: | |
| OMIM Id: |
170995
|
| ICD-10: |
|
| UMLs: |
|
| MeSH: |
|
| MedDRA: |
|
| Snomed: |
|
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
|
| Age of onset: |
|
Disease classification (adopted from Orphanet):
| Parent Diseases: | No data available. |
Symptom Information:
|
|
(HPO:0000057) | Clitoromegaly | 30 / 7739 | ||||
|
|
(HPO:0004734) | Renal cortical microcysts | 10 / 7739 | ||||
|
|
(HPO:0000028) | Cryptorchidism | 347 / 7739 | ||||
|
|
(HPO:0100540) | Palpebral edema | 31 / 7739 | ||||
|
|
(HPO:0000286) | Epicanthus | 371 / 7739 | ||||
|
|
(HPO:0000268) | Dolichocephaly | 144 / 7739 | ||||
|
|
(HPO:0000347) | Micrognathia | 426 / 7739 | ||||
|
|
(HPO:0000272) | Malar flattening | 277 / 7739 | ||||
|
|
(HPO:0000175) | Cleft palate | 349 / 7739 | ||||
|
|
(HPO:0000316) | Hypertelorism | 644 / 7739 | ||||
|
|
(HPO:0000311) | Round face | 104 / 7739 | ||||
|
|
(HPO:0000348) | High forehead | 157 / 7739 | ||||
|
|
(HPO:0000262) | Turricephaly | 38 / 7739 | ||||
|
|
(HPO:0000582) | Upslanted palpebral fissure | 185 / 7739 | ||||
|
|
(HPO:0000239) | Large fontanelles | 135 / 7739 | ||||
|
|
(HPO:0007759) | Opacification of the corneal stroma | 77 / 7739 | ||||
|
|
(HPO:0000518) | Cataract | 454 / 7739 | ||||
|
|
(HPO:0001093) | Optic nerve dysplasia | 6 / 7739 | ||||
|
|
(HPO:0000580) | Pigmentary retinopathy | 49 / 7739 | ||||
|
|
(HPO:0001088) | Brushfield spots | 8 / 7739 | ||||
|
|
(HPO:0011039) | Abnormality of the helix | 33 / 7739 | ||||
|
|
(HPO:0000369) | Low-set ears | 372 / 7739 | ||||
|
|
(HPO:0001250) | Seizures | 1245 / 7739 | ||||
|
|
(HPO:0001284) | Areflexia | 198 / 7739 | ||||
|
|
(HPO:0001249) | Intellectual disability | 1089 / 7739 | ||||
|
|
(HPO:0000954) | Single transverse palmar crease | 162 / 7739 | ||||
|
|
(HPO:0002967) | Cubitus valgus | 49 / 7739 | ||||
|
|
(HPO:0009473) | Joint contracture of the hand | 84 / 7739 | ||||
|
|
(HPO:0001762) | Talipes equinovarus | 309 / 7739 | ||||
|
|
(HPO:0002764) | Stippled chondral calcification | 3 / 7739 | ||||
|
|
(HPO:0001840) | Metatarsus adductus | 49 / 7739 | ||||
|
|
(HPO:0002033) | Poor suck | 37 / 7739 | ||||
|
|
(HPO:0001401) | Intrahepatic biliary dysgenesis | 5 / 7739 | ||||
|
|
(HPO:0001433) | Hepatosplenomegaly | 78 / 7739 | ||||
|
|
(HPO:0000952) | Jaundice | 105 / 7739 | ||||
|
|
(HPO:0002240) | Hepatomegaly | 467 / 7739 | ||||
|
|
(HPO:0001511) | Intrauterine growth retardation | 358 / 7739 | ||||
|
|
(HPO:0001508) | Failure to thrive | 454 / 7739 | ||||
|
|
(HPO:0002104) | Apnea | 106 / 7739 | ||||
|
|
(HPO:0000778) | Hypoplasia of the thymus | 13 / 7739 | ||||
|
|
(HPO:0001252) | Muscular hypotonia | 990 / 7739 | ||||
|
|
(HPO:0003819) | Death in childhood | 42 / 7739 | ||||
|
|
(HPO:0030680) | Abnormality of cardiovascular system morphology | 355 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|