CATARACT 17, MULTIPLE TYPES

General Information (adopted from Orphanet):

Synonyms, Signs: CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 3
CTRCT17
CATCN3
Number of Symptoms 3
OrphanetNr:
OMIM Id: 611544
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:0100018) Nuclear cataract 14 / 7739
2
(HPO:0000519) Congenital cataract 73 / 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 CRYBB1 gene have been found to cause multiple types of cataract, which have been described as congenital nuclear and pulverulent. Autosomal dominant and autosomal recessive forms have been described.

The preferred title/symbol for ...

Clinical Description OMIM Mackay et al. (2002) studied 8 affected members in 4 generations of a family segregating pulverulent cataract. The cataract was bilateral in all cases and consisted of fine, dust-like opacities that affected mainly the central zone, or fetal ...
Molecular genetics OMIM In affected members of a family segregating autosomal dominant pulverulent cataract, Mackay et al. (2002) identified heterozygosity for a nonsense mutation in the CRYBB1 gene (G220X; 600929.0001).

In affected members of 2 unrelated consanguineous Bedouin families ...