CATARACT 10, MULTIPLE TYPES

General Information (adopted from Orphanet):

Synonyms, Signs: CATARACT, CONGENITAL ZONULAR, WITH SUTURAL OPACITIES
CTRCT10
CCZS
Number of Symptoms 3
OrphanetNr:
OMIM Id: 600881
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:0010920) Zonular cataract 3 / 7739
2
(HPO:0000519) Congenital cataract 73 / 7739
3
(OMIM) Y-shaped sutural cataract 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Mutations in the CRYBA1 gene have been found to cause multiple types of cataract, which have been described as congenital zonular with sutural opacities, congenital nuclear progressive, and progressive lamellar.

The preferred title/symbol of this entry ...

Clinical Description OMIM Basti et al. (1996) described a 4-generation Indian family segregating autosomal dominant zonular cataracts with sutural opacities. All affected family members had bilaterally symmetric cataracts. The cataracts had a uniform zonular component that measured 3.5 to 4.0 in ...
Molecular genetics OMIM In an Indian family with zonular cataract with sutural opacities described by Basti et al. (1996) and mapped to chromosome 17q by Padma et al. (1995), Kannabiran et al. (1998, 1999) identified a heterozygous splice site mutation in ...