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Cataract 21 multiple types

Synonyms
CATARACT 21, CERULEAN, WITH OR WITHOUT MICROCORNEA; CATARACT 21, MULTIPLE TYPES, WITH MICROCORNEA; CATARACT 21, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA; Cataract, congenital, cerulean type, 4; Cataract, pulverulent, juvenile-onset

Summary

Mutations in the MAF gene have been found to cause multiple types of cataract, which have been described as cortical pulverulent, lamellar, nuclear, nuclear pulverulent, nuclear stellate, anterior polar, anterior subcapsular, posterior subcapsular, and cerulean. In some cases, the cataracts are of juvenile onset. The preferred title of this entry was formerly 'Cataract, Pulverulent, Juvenile-Onset,' with an 'Included' title/symbol of 'Cataract, Congenital, Cerulean Type, 4; CCA4.' [from OMIM]

Available tests

23 tests are in the database for this condition.

Clinical tests (23 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: AYGRP, CCA4, CTRCT21, c-MAF, MAF
    Summary: MAF bZIP transcription factor

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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