Axenfeld anomaly
General Information (adopted from Orphanet):
| Synonyms, Signs: |
|
| Number of Symptoms | 6 |
| OrphanetNr: | 98978 |
| OMIM Id: |
601631
602482 |
| ICD-10: |
Q13.8 |
| UMLs: |
C0266548 |
| MeSH: |
|
| MedDRA: |
10058653 |
| Snomed: |
204152008 |
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
|
| Age of onset: |
|
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Goniodysgenesis
-Rare developmental defect during embryogenesis -Rare eye disease -Rare genetic disease |
Symptom Information:
|
|
(HPO:0000501) | Glaucoma | 180 / 7739 | ||||
|
|
(HPO:0007990) | Hypoplastic iris stroma | 9 / 7739 | ||||
|
|
(HPO:0007905) | Abnormal iris vasculature | 3 / 7739 | ||||
|
|
(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
|
|
(HPO:0002280) | Enlarged cisterna magna | rare [HPO:skoehler] | 12 / 7739 | |||
|
|
(HPO:0001320) | Cerebellar vermis hypoplasia | rare [HPO:skoehler] | 57 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|