Details of Disease

General Information of Disease (ID: DISPMBTP)

Disease Name Cataract 46 juvenile-onset
Synonyms
cataract 46, juvenile-onset; cataract Hutterite type; cataract, juvenile, Hutterite type; cataract, congenital or juvenile; juvenilae cataract Hutterite type; LEMD2 early-onset non-syndromic cataract; early-onset non-syndromic cataract caused by mutation in LEMD2; CTRCT46
Definition Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the LEMD2 gene.|Not in the OMIM series.
Disease Hierarchy
DIS4VPS0: Early-onset non-syndromic cataract
DISPMBTP: Cataract 46 juvenile-onset
Disease Identifiers
MONDO ID
MONDO_0008925
UMLS CUI
C0220721
OMIM ID
212500
MedGen ID
113102

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
LEMD2 OT0YLT7L Strong Autosomal recessive [1]
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References

1 Hutterite-type cataract maps to chromosome 6p21.32-p21.31, cosegregates with a homozygous mutation in LEMD2, and is associated with sudden cardiac death. Mol Genet Genomic Med. 2015 Nov 14;4(1):77-94. doi: 10.1002/mgg3.181. eCollection 2016 Jan.