" /> Cataract 6, multiple types - CISMeF





Preferred Label : Cataract 6, multiple types;

Symbol : CTRCT6;

CISMeF acronym : ARCC2; CTPP1; CTRCT6;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cataract, posterior polar, 1; CTPP1; ARCC2; Cataract, age-related cortical, 2;

Description : 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;;

Inheritance : Autosomal dominant;

Prefixed ID : #116600;

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04/05/2025


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