CATARACT 4, MULTIPLE TYPES

General Information (adopted from Orphanet):

Synonyms, Signs: CATARACT 4, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA
CATARACT, CONGENITAL, CERULEAN TYPE, 3
CTRCT4
CATARACT, PUNCTATE, PROGRESSIVE JUVENILE-ONSET
CATARACT, NONNUCLEAR POLYMORPHIC CONGENITAL
CATARACT, CRYSTALLINE ACULEIFORM
PCC
CACA
CCA3
Number of Symptoms 2
OrphanetNr:
OMIM Id: 115700
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
(OMIM) Crystalline cataract 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Mutations in the CRYGD gene have been found to cause multiple types of cataract, which have been described as aculeiform, crystalline aculeiform, crystalline, crystal, frosted, needle-shaped, fasciculiform, congenital cerulean, nonnuclear polymorphic congenital, central nuclear, lamellar, and punctate. Some ...
Clinical Description OMIM Rogaev et al. (1996) reported a large pedigree in which 103 of 254 members had autosomal dominant nonnuclear polymorphic congenital cataract. The disorder showed great variability in location, color, and number of opacities in this pedigree. Rogaev et ...
Molecular genetics OMIM In affected members of a 3-generation family segregating juvenile-onset progressive punctate cataracts, Stephan et al. (1999) identified a heterozygous missense mutation in the CRYGD gene (R14C; 123690.0001). Protein modeling suggested that the effect of this mutation was a ...