" /> Cataract 17, multiple types - CISMeF





Preferred Label : Cataract 17, multiple types;

Symbol : CTRCT17;

CISMeF acronym : CATCN3; CTRCT17;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cataract 17, multiple types, with or without microcornea; CATCN3; Cataract, congenital nuclear, autosomal recessive 3;

Description : Mutations in the CRYBB1 gene have been found to cause multiple types of cataract, which have been described as congenital nuclear and pulverulent. Autosomal dominant and autosomal recessive forms have been described. The preferred title/symbol for this entry was formerly 'Cataract, Congenital Nuclear, Autosomal Recessive 3; CATCN3.';

Inheritance : Autosomal recessive; Autosomal dominant;

Molecular basis : Caused by mutation in the beta-B1 crystallin gene (CRYBB1, 600929.0001);

Prefixed ID : #611544;

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02/05/2025


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