Cataract 1, multiple types

Preferred Label : Cataract 1, multiple types;

Symbol : CTRCT1;

CISMeF acronym : CAE1; CTRCT1; CZP; CZP1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cataract, duffy-linked; CAE1; Cataract 1, multiple types, with or without microcornea; Cataract, zonular pulverulent, 1; CZP1; CZP;

Description : Mutations in the GJA8 gene have been found to cause several types of autosomal dominant cataract, which have been described as congenital, zonular pulverulent, nuclear progressive, nuclear pulverulent, stellate nuclear, nuclear total, total, and posterior subcapsular. Cataract associated with microcornea, sometimes called the cataract-microcornea syndrome, is also caused by mutation in the GJA8 gene. Before it was known that mutation in the GJB8 gene caused multiple types of cataract, this entry was titled 'Cataract, zonular pulverulent, 1,' with the symbols CZP1, CZP, and CAE1.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the gap junction membrane channel protein alpha-8 gene (GJA8, 600897.0001);

Prefixed ID : #116200;

Details

Origin ID

116200;

UMLS CUI

C1861828;

Automatic exact mappings (from CISMeF team)
- Carzinophilin [NCIt concept]
- Early-onset non-syndromic cataract [ORDO Disease]
Currated CISMeF NLP mapping
- cataract 1 multiple types [DO Concept]
- cataract, zonular pulverulent 1 [MeSH concept]
- cataract, zonular pulverulent 1 [MeSH Supplementary Concept]
- pulverulent zonular cataract [Disease (Nov.)]
DO Cross reference
- cataract 1 multiple types [DO Concept]
False automatic mappings
- Certolizumab Pegol [NCIt concept]
Genes related to phenotype
- Gap junction protein, alpha-8 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Developmental cataract [HPO term]
- Microcornea [HPO term]
- Nuclear cataract [HPO term]
- Posterior subcapsular cataract [HPO term]
- Pulverulent cataract [HPO term]
ORDO concept(s)
- Cataract-microcornea syndrome [ORDO Disease]
- Early-onset non-syndromic cataract [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- cataract 1 multiple types [DO Concept]
- cataract, zonular pulverulent 1 [MeSH Supplementary Concept]
- cataract, zonular pulverulent 1 [MeSH concept]
- pulverulent zonular cataract [Disease (Nov.)]

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