Choroidal atrophy - alopecia
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Regional choroidal atrophy and alopecia Moloney syndrome |
| Number of Symptoms | 9 |
| OrphanetNr: | 1433 |
| OMIM Id: |
|
| ICD-10: |
|
| UMLs: |
|
| MeSH: |
|
| MedDRA: |
|
| Snomed: |
|
Prevalence, inheritance and age of onset:
| Prevalence: | 2 cases [Orphanet] |
| Inheritance: |
Unknown [Orphanet] |
| Age of onset: |
Neonatal [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Ectodermal dysplasia syndrome
-Rare developmental defect during embryogenesis -Rare genetic disease -Rare skin disease |
Symptom Information:
|
|
(HPO:0200102) | Sparse or absent eyelashes | Very frequent [Orphanet] | 64 / 7739 | |||
|
|
(HPO:0100840) | Aplasia/Hypoplasia of the eyebrow | Very frequent [Orphanet] | 117 / 7739 | |||
|
|
(HPO:0000510) | Rod-cone dystrophy | Very frequent [Orphanet] | 266 / 7739 | |||
|
|
(HPO:0000505) | Visual impairment | Very frequent [Orphanet] | 297 / 7739 | |||
|
|
(HPO:0002558) | Supernumerary nipple | Occasional [Orphanet] | 40 / 7739 | |||
|
|
(HPO:0006101) | Finger syndactyly | Occasional [Orphanet] | 198 / 7739 | |||
|
|
(HPO:0001006) | Hypotrichosis | Very frequent [Orphanet] | 219 / 7739 | |||
|
|
(HPO:0002213) | Fine hair | Very frequent [Orphanet] | 77 / 7739 | |||
|
|
(HPO:0001805) | Thick nail | Very frequent [Orphanet] | 96 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|