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Cataract 1 multiple types

Synonyms
CATARACT 1 WITH MICROCORNEA; CATARACT 1, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA; CATARACT 1, NUCLEAR PROGRESSIVE; CATARACT 1, POSTERIOR SUBCAPSULAR, WITH MICROCORNEA; CATARACT 1, STELLATE NUCLEAR, WITH MICROCORNEA; CATARACT, DUFFY-LINKED; Cataract 1; Cataract microcornea syndrome

Summary

Mutations in the GJA8 gene have been found to cause several types of autosomal dominant cataract, which have been described as congenital, zonular pulverulent, nuclear progressive, nuclear pulverulent, stellate nuclear, nuclear total, total, and posterior subcapsular. Cataract associated with microcornea, sometimes called the cataract-microcornea syndrome, is also caused by mutation in the GJA8 gene. Before it was known that mutation in the GJB8 gene caused multiple types of cataract, this entry was titled 'Cataract, zonular pulverulent, 1,' with the symbols CZP1, CZP, and CAE1. [from OMIM]

Available tests

24 tests are in the database for this condition.

Clinical tests (24 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CAE, CAE1, CTRCT1, CX50, CZP1, MP70, GJA8
    Summary: gap junction protein alpha 8

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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