CATARACT 37

General Information (adopted from Orphanet):

Synonyms, Signs: CTRCT37
CATARACT, CONGENITAL, CERULEAN TYPE, 5
CCA5
Number of Symptoms 5
OrphanetNr:
OMIM Id: 614422
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000519) Congenital cataract 73 / 7739
2
(HPO:0007976) Cerulean cataract 3 / 7739
3
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
4
(OMIM) Cuneiform opacities in lens periphery 1 / 7739
5
(OMIM) Blue-white dots throughout lens, more numerous in cortex 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Berry et al. (2011) examined 5 affected individuals from a 5-generation English family segregating autosomal dominant congenital cerulean cataract. Cataract was diagnosed at a mean age of 17 years, and patients underwent surgery at a mean age of ...