Cataract 31, multiple types

Preferred Label : Cataract 31, multiple types;

Symbol : CTRCT31;

CISMeF acronym : CPP3; CTPP3; CTRCT31;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : CTPP3; Cataract, posterior polar, 3; CPP3;

Description : Mutations in the CHMP4B gene have been found to cause multiple types of cataract, which have been described as posterior polar, progressive posterior subcapsular, nuclear, and anterior subcapsular. The preferred title/symbol of this entry was formerly 'Cataract, Posterior Polar, 3; CTPP3.';

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the CHMP4B family, member 5 gene (CHMP4B, 610897.0001);

Prefixed ID : #605387;

Details

Origin ID

605387;

UMLS CUI

C1854311;

Automatic exact mappings (from CISMeF team)
- Early-onset non-syndromic cataract [ORDO Disease]
- Early-onset posterior polar cataract [ORDO Disease]
Broader ORDO disease(s)
- Early-onset posterior polar cataract [ORDO Disease]
Currated CISMeF NLP mapping
- Cataract, posterior polar, 3 [MeSH concept]
- cataract 31 multiple types [DO Concept]
- cataract, posterior polar, 3 [MeSH Supplementary Concept]
DO Cross reference
- cataract 31 multiple types [DO Concept]
Genes related to phenotype
- Charged multivesicular body protein 4b [OMIM gene]
HPO term(s)
- Anterior subcapsular cataract [HPO term]
- Autosomal dominant inheritance [HPO term]
- Nuclear cataract [HPO term]
- Posterior subcapsular 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, posterior polar, 3 [MeSH concept]
- cataract 31 multiple types [DO Concept]
- cataract, posterior polar, 3 [MeSH Supplementary Concept]

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