CATARACT 39, MULTIPLE TYPES

General Information (adopted from Orphanet):

Synonyms, Signs: CTRCT39
Number of Symptoms 5
OrphanetNr:
OMIM Id: 615188
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:0001134) Anterior polar cataract 8 / 7739
3
(HPO:0007971) Lamellar cataract 6 / 7739
4
(OMIM) Cataract, complete 3 / 7739
5
(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 CRYGB gene have been found to cause multiple types of cataract, which have been described as lamellar, anterior polar, and complete.
Clinical Description OMIM AlFadhli et al. (2012) studied a 3-generation consanguineous Kuwaiti family segregating congenital cataract of multiple types in an autosomal dominant pattern. Four family members had lamellar cataracts, including the proband and her father, her paternal grandfather, and a ...
Molecular genetics OMIM In a 3-generation Kuwaiti family with autosomal dominant congenital cataract mapping to chromosome 2q33-q37, AlFadhli et al. (2012) screened the 4 candidate gamma-crystallin genes, CRYGA (123660), CRYGB (123670), CRYGC (123680), and CRYGD (123690), and identified 2 different mutations ...