CATARACT 3, MULTIPLE TYPES

General Information (adopted from Orphanet):

Synonyms, Signs: CATARACT, CONGENITAL, CERULEAN TYPE, 2
CTRCT3
CATARACT 3, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA
CCA2
Number of Symptoms 4
OrphanetNr:
OMIM Id: 601547
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 obligate [HPO:skoehler] 3 / 7739
3
(HPO:0010695) Sutural cataract 3 / 7739
4
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Mutations in the CRYBB2 gene have been found to cause several types of cataract, which have been described as congenital cerulean, 'blue dot,' Coppock-like, sutural with punctate and cerulean opacities, pulverulent embryonal, pulverulent with cortical opacities, dense posterior ...
Clinical Description OMIM Bodker et al. (1990) reported a kindred in which autosomal dominant cataract was known to have occurred in at least 6 generations. Of a total of 159 relatives, 17 affected persons were evaluated. Visual acuity was normal to ...
Molecular genetics OMIM In affected members of a family with cerulean cataract reported by Kramer et al. (1996), Litt et al. (1997) identified heterozygosity for a nonsense mutation in the CRYBB2 gene (Q155X; 123620.0001). A severely affected female family member, who ...