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: Sort by abundance 

1
(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 ...