Details of Disease

General Information of Disease (ID: DISIXL03)

Disease Name Cataract 30
Synonyms cataract 30, multiple types; cataract 30, pulverulent; cataract type 30; cataract 30 pulverulent; CTRCT30; cataract 30; cataract Coppock-like
Definition A cataract that has material basis in heterozygous mutation in the VIM gene on chromosome 10p13.
Disease Hierarchy
DISQWNAO: Early-onset partial cataract
DIS4VPS0: Early-onset non-syndromic cataract
DISIXL03: Cataract 30
Disease Identifiers
MONDO ID
MONDO_0007286
UMLS CUI
C3805411
OMIM ID
116300
MedGen ID
811741

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
VIM OTGZLW4J Strong Autosomal dominant [1]
------------------------------------------------------------------------------------

References

1 Dominant cataract formation in association with a vimentin assembly disrupting mutation. Hum Mol Genet. 2009 Mar 15;18(6):1052-7. doi: 10.1093/hmg/ddn440. Epub 2009 Jan 6.