Cataract 21, multiple types

Preferred Label : Cataract 21, multiple types;

Symbol : CTRCT21;

CISMeF acronym : CCA4; CTRCT21;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cataract, pulverulent, juvenile-onset; CCA4; Cataract, congenital, cerulean type, 4; Cataract 21, multiple types, with or without microcornea;

Description : Mutations in the MAF gene have been found to cause multiple types of cataract, which have been described as juvenile-onset cortical pulverulent, lamellar, nuclear pulverulent, posterior subcapsular, and congenital cerulean. The preferred title of this entry was formerly 'Cataract, Pulverulent, Juvenile-Onset,' with an 'Included' title/symbol of 'Cataract, Congenital, Cerulean Type, 4; CCA4.';

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in MAF bZIP transcription factor gene (MAF, 177075.0001);

Prefixed ID : #610202;

Details

Origin ID

610202;

UMLS CUI

C1857768;

Automatic exact mappings (from CISMeF team)
- Early-onset non-syndromic cataract [ORDO Disease]
- Infantile non-syndromic cataract [ORDO Disease]
Currated CISMeF NLP mapping
- cataract 21 multiple types [DO Concept]
- cataract, pulverulent, Juvenile-Onset [MeSH Supplementary Concept]
- cataract, pulverulent, Juvenile-Onset [MeSH concept]
DO Cross reference
- cataract 21 multiple types [DO Concept]
Genes related to phenotype
- Maf bzip transcription factor [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Cerulean cataract [HPO term]
- Cortical pulverulent cataract [HPO term]
- Iris coloboma [HPO term]
- Macular hypoplasia [HPO term]
- Microcornea [HPO term]
- Retinal detachment [HPO term]
ORDO concept(s)
- Early-onset non-syndromic cataract [ORDO Disease]
- Infantile non-syndromic cataract [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- cataract 21 multiple types [DO Concept]
- cataract, pulverulent, Juvenile-Onset [MeSH concept]
- cataract, pulverulent, Juvenile-Onset [MeSH Supplementary Concept]

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