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GTR Home > Conditions/Phenotypes > Cataract 6 multiple types

Cataract 6 multiple types

Synonyms
CATARACT 6, CONGENITAL TOTAL; CATARACT 6, POSTERIOR POLAR; CATARACT, AGE-RELATED CORTICAL, 2; Cataract, posterior polar, 1

Summary

Mutations in the EPHA2 gene have been found to cause multiple types of cataract, which have been described as posterior polar, congenital total, complete, and age-related cortical. The preferred title/symbol of this entry was formerly 'Cataract, posterior polar, 1; CTPP1,' and 'Cataract, Age-Related Cortical, 2; ARCC2' was formerly a distinct entry. [from OMIM]

Available tests

17 tests are in the database for this condition.

Clinical tests (17 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ARCC2, CTPA, CTPP1, CTRCT6, ECK, EPHA2
    Summary: EPH receptor A2

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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