Cataract 10, multiple types

Preferred Label : Cataract 10, multiple types;

Symbol : CTRCT10;

CISMeF acronym : CCZS; CTRCT10;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cataract, congenital zonular, with sutural opacities; CCZS;

Description : Mutations in the CRYBA1 gene have been found to cause multiple types of cataract, which have been described as congenital zonular with sutural opacities, congenital nuclear progressive, and progressive lamellar. The preferred title/symbol of this entry was formerly 'Cataract, Congenital Zonular, with Sutural Opacities; CCZS.';

Inheritance : Autosomal dominant (17q11-q12);

Prefixed ID : #600881;

Details

Origin ID

600881;

UMLS CUI

C1833229;

Currated CISMeF NLP mapping
- cataract 10 multiple types [DO Concept]
- cataract, congenital zonular, with sutural opacities [MeSH concept]
- cataract, congenital zonular, with sutural opacities [MeSH Supplementary Concept]
DO Cross reference
- cataract 10 multiple types [DO Concept]
Genes related to phenotype
- Crystallin, beta-a1 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Developmental cataract [HPO term]
- Posterior Y-sutural cataract [HPO term]
- Zonular cataract [HPO term]
ORDO concept(s)
- Early-onset lamellar cataract [ORDO Disease]
- Early-onset non-syndromic cataract [ORDO Disease]
- Early-onset nuclear cataract [ORDO Disease]
- Early-onset posterior polar cataract [ORDO Disease]
- Early-onset sutural cataract [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- cataract 10 multiple types [DO Concept]
- cataract, congenital zonular, with sutural opacities [MeSH Supplementary Concept]
- cataract, congenital zonular, with sutural opacities [MeSH concept]

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