Details of Disease

General Information of Disease (ID: DISBMP8O)

Disease Name Cataract 40
Synonyms
cataract 40, X-linked; cataract, congenital, X-linked; cataract, congenital, with microcornea or slight microphthalmia; cataract congenital X-linked; cataract, congenital total, with posterior sutural opacities in heterozygotes; cataract type 40; cataract 40; CTRCT40; NHS early-onset non-syndromic cataract; cataract 40 X-linked; early-onset non-syndromic cataract caused by mutation in NHS; cataract 40 with or without microcornea
Definition Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the NHS gene.
Disease Hierarchy
DIS4VPS0: Early-onset non-syndromic cataract
DISBMP8O: Cataract 40
Disease Identifiers
MONDO ID
MONDO_0010544
UMLS CUI
C4049004
OMIM ID
302200
MedGen ID
886621

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
NHS OTKE8QAT Definitive X-linked recessive [1]
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References

1 X-linked cataract and Nance-Horan syndrome are allelic disorders. Hum Mol Genet. 2009 Jul 15;18(14):2643-55. doi: 10.1093/hmg/ddp206. Epub 2009 May 4.