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GTR Home > Conditions/Phenotypes > Cataract 4 multiple types

Cataract 4 multiple types

Synonyms
Autosomal dominant nonnuclear polymorphic congenital cataract; CATARACT 4 WITH MICROCORNEA; CATARACT 4, ACULEIFORM; CATARACT 4, CENTRAL NUCLEAR; CATARACT 4, CRYSTALLINE; CATARACT 4, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA; CATARACT 4, NONNUCLEAR POLYMORPHIC CONGENITAL; CATARACT 4, PUNCTATE; Cataract 4; Cataract congenital dominant non nuclear

Summary

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 patients also exhibit microcornea. Because multiple types of cataract are caused by mutation in the CRYGD gene, some of which display intrafamilial variability, several earlier distinct cataract entries in OMIM have been included here. [from OMIM]

Available tests

8 tests are in the database for this condition.

Clinical tests (8 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CACA, CCA3, CCP, CRYG4, CTRCT4, PCC, cry-g-D, CRYGD
    Summary: crystallin gamma D

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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