Details of Disease

General Information of Disease (ID: DISDR8OQ)

Disease Name Cataract 41
Synonyms
cataract 41, congenital nuclear type; cataract 41; WFS1 early-onset non-syndromic cataract; early-onset non-syndromic cataract caused by mutation in WFS1; congenital nuclear type cataract 41; cataract type 41; CTRCT41
Definition Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the WFS1 gene.
Disease Hierarchy
DISGIHUY: Early-onset nuclear cataract
DIS4VPS0: Early-onset non-syndromic cataract
DISDR8OQ: Cataract 41
Disease Identifiers
MONDO ID
MONDO_0007287
UMLS CUI
C3805412
OMIM ID
116400
MedGen ID
811742

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
WFS1 OTYF2UYI Strong Autosomal dominant [1]
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References

1 Wolfram gene (WFS1) mutation causes autosomal dominant congenital nuclear cataract in humans. Eur J Hum Genet. 2013 Dec;21(12):1356-60. doi: 10.1038/ejhg.2013.52. Epub 2013 Mar 27.