Cataract 17, multiple types

Preferred Label : Cataract 17, multiple types;

Symbol : CTRCT17;

CISMeF acronym : CATCN3; CTRCT17;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cataract 17, multiple types, with or without microcornea; CATCN3; Cataract, congenital nuclear, autosomal recessive 3;

Description : Mutations in the CRYBB1 gene have been found to cause multiple types of cataract, which have been described as congenital nuclear and pulverulent. Autosomal dominant and autosomal recessive forms have been described. The preferred title/symbol for this entry was formerly 'Cataract, Congenital Nuclear, Autosomal Recessive 3; CATCN3.';

Inheritance : Autosomal recessive; Autosomal dominant;

Molecular basis : Caused by mutation in the beta-B1 crystallin gene (CRYBB1, 600929.0001);

Prefixed ID : #611544;

Détails

Origin ID

611544;

UMLS CUI

C3888124;

Automatic exact mappings (from CISMeF team)
- Early-onset non-syndromic cataract [ORDO Disease]
- Early-onset nuclear cataract [ORDO Disease]
Currated CISMeF NLP mapping
- cataract 17 multiple types [DO Concept]
- cataract, congenital nuclear, autosomal recessive 3 [MeSH concept]
- cataract, congenital nuclear, autosomal recessive 3 [MeSH Supplementary Concept]
DO Cross reference
- cataract 17 multiple types [DO Concept]
Genes related to phenotype
- Crystallin, beta-b1 [OMIM gene]
HPO term(s)
- Amblyopia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Developmental cataract [HPO term]
- Microcornea [HPO term]
- Nuclear cataract [HPO term]
- Nystagmus [HPO term]
- Pulverulent cataract [HPO term]
- Reduced visual acuity [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 17 multiple types [DO Concept]

Position du mot-clé dans l'(les) arborescence(s) :

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