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Cataract 1 multiple types

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Description

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.

OMIM

  • Mode of Inheritance

  • Autosomal dominant inheritance

VARIANTS

63

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Genes

External Links

  • OMIM

    116200

  • Orphanet
  • HPO
  • Medgen

    C1861828

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