Cataract 3, multiple types

Preferred Label : Cataract 3, multiple types;

Symbol : CTRCT3;

CISMeF acronym : CCA2; CTRCT3;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cataract 3, multiple types, with or without microcornea; CCA2; Cataract, congenital, cerulean type, 2;

Description : Mutations in the CRYBB2 gene have been found to cause several types of cataract, which have been described as congenital cerulean, 'blue dot,' Coppock-like, sutural with punctate and cerulean opacities, pulverulent embryonal, pulverulent with cortical opacities, dense posterior star-shaped subcapsular with pulverulent opacities in the cortical and embryonal regions, and dense embryonal. Before it was known that mutations in the CRYBB2 gene cause several types of cataract, the preferred title of this entry was 'Cataract, Congenital, Cerulean Type 2,' with the symbol CCA2.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the beta-B2-crystallin gene (CRYBB2, 123620.0001);

Prefixed ID : #601547;

Details

Origin ID

601547;

UMLS CUI

C1832175;

Broader ORDO disease(s)
- Cerulean cataract [ORDO Disease]
Currated CISMeF NLP mapping
- cataract 3 multiple types [DO Concept]
- cataract, congenital, cerulean type, 2 [MeSH concept]
- cataract, congenital, cerulean type, 2 [MeSH Supplementary Concept]
DO Cross reference
- cataract 3 multiple types [DO Concept]
Genes related to phenotype
- Crystallin, beta-b2 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Cerulean cataract [HPO term]
- Developmental cataract [HPO term]
- Nuclear pulverulent cataract [HPO term]
- Sutural cataract [HPO term]
ORDO concept(s)
- Cataract-microcornea syndrome [ORDO Disease]
- Coppock-like cataract [ORDO Disease]
- Early-onset non-syndromic cataract [ORDO Disease]
- Infantile non-syndromic cataract [ORDO Disease]
- Total early-onset cataract [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- cataract 3 multiple types [DO Concept]
- cataract, congenital, cerulean type, 2 [MeSH Supplementary Concept]
- cataract, congenital, cerulean type, 2 [MeSH concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients