CATARACT 22, MULTIPLE TYPES

General Information (adopted from Orphanet):

Synonyms, Signs: CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 2
CTRCT22
CATCN2
CATARACT 22, NUCLEAR
Number of Symptoms 3
OrphanetNr:
OMIM Id: 609741
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:0000501) Glaucoma rare [HPO:skoehler] 180 / 7739
2
(HPO:0100018) Nuclear cataract 14 / 7739
3
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Mutations in the CRYBB3 gene have been identified in 2 families with cataract, described as congenital nuclear cataract with cortical riders.

The preferred title/symbol of this entry was formerly 'Cataract, Congenital Nuclear, Autosomal Recessive 2; CATCN2.' ...

Clinical Description OMIM Riazuddin et al. (2005) described 2 consanguineous Pakistani families from the Punjab region with autosomal recessive nonsyndromic congenital nuclear cataract with cortical riders.
Molecular genetics OMIM In affected members of 2 consanguineous Pakistani families segregating nonsyndromic congenital cataract mapping to chromosome 22q11, Riazuddin et al. (2005) sequenced the beta-crystallin genes in this region and identified a missense mutation in the CRYBB3 gene (G165R; 123630.0001) ...