Cataract 14, multiple types

Preferred Label : Cataract 14, multiple types;

Symbol : CTRCT14;

CISMeF acronym : CAE3; CTRCT14; CZP3;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : CAE3; Cataract, zonular pulverulent 3; CZP3;

Description : Mutations in the GJA3 gene have been found to cause multiple types of cataract, which have been described as zonular pulverulent, posterior polar, nuclear coralliform, embryonal nuclear, and Coppock-like. The preferred title/symbol for this entry was formerly 'Cataract, Zonular Pulverulent 3; CZP3.';

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the gap junction, alpha-3, 46kD protein gene (GJA3, 121015.0001);

Prefixed ID : #601885;

Details

Origin ID

601885;

UMLS CUI

C1866078;

Automatic exact mappings (from CISMeF team)
- Early-onset non-syndromic cataract [ORDO Disease]
Currated CISMeF NLP mapping
- cataract 14 multiple types [DO Concept]
- cataract, zonular pulverulent 3 [MeSH concept]
- cataract, zonular pulverulent 3 [MeSH Supplementary Concept]
DO Cross reference
- cataract 14 multiple types [DO Concept]
Genes related to phenotype
- Gap junction protein, alpha-3 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Zonular cataract [HPO term]
ORDO concept(s)
- Early-onset non-syndromic cataract [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- cataract 14 multiple types [DO Concept]
- cataract, zonular pulverulent 3 [MeSH Supplementary Concept]
- cataract, zonular pulverulent 3 [MeSH concept]

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