CORNEAL DYSTROPHY, BAND-SHAPED
General Information (adopted from Orphanet):
Synonyms, Signs: |
BAND KERATOPATHY |
Number of Symptoms | 1 |
OrphanetNr: | |
OMIM Id: |
217500
|
ICD-10: |
|
UMLs: |
|
MeSH: |
|
MedDRA: |
|
Snomed: |
|
Prevalence, inheritance and age of onset:
Prevalence: | No data available. |
Inheritance: |
Autosomal recessive inheritance [Omim] |
Age of onset: |
|
Disease classification (adopted from Orphanet):
Parent Diseases: | No data available. |
Symptom Information:
|
(HPO:0007709) | Band-shaped corneal dystrophy | 2 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
---|
Additional Information:
Clinical Description OMIM |
Streiff and Zwahlen (1946) observed the disorder in 3 of 9 children of a first-cousin mating. The opacity began at puberty in 2 but was already present at birth in the third. The opacity forms a well-delimited band ... |