Central areolar choroidal dystrophy
General Information (adopted from Orphanet):
| Synonyms, Signs: |
CACD Central areolar choroidal sclerosis Areolar atrophy of the macula |
| Number of Symptoms | 3 |
| OrphanetNr: | 75377 |
| OMIM Id: |
215500
613105 613144 |
| ICD-10: |
H31.2 |
| UMLs: |
|
| MeSH: |
C535358 |
| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | 3.33 of 100 000 [Orphanet] |
| Inheritance: |
Autosomal recessive Autosomal dominant X-linked X-linked recessive [Orphanet] |
| Age of onset: |
Adult [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
AARSKOG SYNDROME, AUTOSOMAL DOMINANT
-AARSKOG SYNDROME, AUTOSOMAL DOMINANT Colobomatous and areolar dystrophy -Rare eye disease -Rare genetic disease |
Symptom Information:
|
|
(HPO:0000533) | Chorioretinal atrophy | 24 / 7739 | ||||
|
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
|
|
(HPO:0030491) | Choriocapillaris atrophy | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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