Cataract 16, multiple types

Preferred Label : Cataract 16, multiple types;

Symbol : CTRCT16;

CISMeF acronym : CTPP2; CTRCT16;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cataract, posterior polar, 2; CTPP2; Cataract, congenital lamellar;

Description : Mutations in the CRYAB gene have been found to cause multiple types of cataract, which have been described as congenital posterior polar, congenital lamellar, and juvenile. Autosomal dominant and autosomal recessive forms have been described. The preferred title/symbol of this entry was formerly 'Cataract, Posterior Polar, 2; CTPP2.';

Inheritance : Autosomal dominant; Autosomal recessive;

Molecular basis : Caused by mutation in the gene encoding alpha-B crystallin (CRYAB, 123590.0002);

Prefixed ID : #613763;

Details

Origin ID

613763;

UMLS CUI

C3808377;

Automatic exact mappings (from CISMeF team)
- CRYAB wt Allele [NCIt concept]
- Congenital lamellar cataract (disorder) [SNOMED CT concept]
- Early-onset non-syndromic cataract [ORDO Disease]
- Early-onset posterior polar cataract [ORDO Disease]
Currated CISMeF NLP mapping
- cataract 16 multiple types [DO Concept]
- cataract, posterior polar, 2 [MeSH concept]
- cataract, posterior polar, 2 [MeSH Supplementary Concept]
DO Cross reference
- cataract 16 multiple types [DO Concept]
Genes related to phenotype
- Crystallin, alpha-b [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Developmental cataract [HPO term]
- Posterior polar cataract [HPO term]
- Retinal dystrophy [HPO term]
ORDO concept(s)
- Early-onset lamellar cataract [ORDO Disease]
- Early-onset non-syndromic cataract [ORDO Disease]
- Early-onset partial cataract [ORDO Disease]
- Early-onset posterior polar cataract [ORDO Disease]
- Early-onset zonular cataract [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- cataract 16 multiple types [DO Concept]

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