Microphthalmia - cataract
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Congenital cataract - microphthalmia |
| Number of Symptoms | 6 |
| OrphanetNr: | 2543 |
| OMIM Id: |
156850
212550 302200 610425 |
| ICD-10: |
Q15.8 |
| UMLs: |
|
| MeSH: |
|
| MedDRA: |
|
| Snomed: |
|
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal dominant inheritance [Omim] |
| Age of onset: |
|
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Nonsyndromic developmental defect of the eye
-Rare developmental defect during embryogenesis -Rare eye disease -Rare genetic disease Syndromic cataract -Rare eye disease -Rare genetic disease |
Symptom Information:
|
|
(HPO:0000568) | Microphthalmia | 183 / 7739 | ||||
|
|
(HPO:0000639) | Nystagmus | 555 / 7739 | ||||
|
|
(HPO:0000486) | Strabismus | 576 / 7739 | ||||
|
|
(HPO:0000616) | Miosis | 11 / 7739 | ||||
|
|
(HPO:0000518) | Cataract | 454 / 7739 | ||||
|
|
(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|