Cataract 41 - CISMeF

Preferred Label : Cataract 41;

Symbol : CTRCT41;

CISMeF acronym : CTRCT41;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cataract 41, congenital nuclear type;

Description : Cataract is an opacification of the lens or lens capsule in the eye and is the most common cause of childhood blindness in the world, with an incidence of 1 to 3 per 10,000 live births. If untreated in infancy or childhood, it frequently causes visual impairment and can result in irreversible ambylopia. Nuclear cataract refers to opacification within the embryonal and/or fetal nuclei of the lens (summary by Berry et al., 2013).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the WFS1 gene (WFS1, 606201.0032);

Prefixed ID : #116400;

Details

Origin ID

116400;

UMLS CUI

C3805412;

Automatic exact mappings (from CISMeF team)
- Early-onset non-syndromic cataract [ORDO Disease]
- Early-onset nuclear cataract [ORDO Disease]
Currated CISMeF NLP mapping
- cataract 41 [DO Concept]
- cataract, nuclear total [MeSH concept]
- cataract, nuclear total [MeSH Supplementary Concept]
DO Cross reference
- cataract 41 [DO Concept]
Genes related to phenotype
- Wolframin er transmembrane glycoprotein [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Nuclear cataract [HPO term]
ORDO concept(s)
- Early-onset non-syndromic cataract [ORDO Disease]
- Early-onset nuclear cataract [ORDO Disease]
- Early-onset partial cataract [ORDO Disease]
- Early-onset zonular cataract [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- cataract 41 [DO Concept]

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