Details of Disease

General Information of Disease (ID: DISOB5GH)

Disease Name Megacystis-microcolon-intestinal hypoperistalsis syndrome 3
Synonyms megacystis-microcolon-intestinal hypoperistalsis syndrome 3; MMIHS3
Disease Hierarchy
DIS9KV47: Megacystis-microcolon-intestinal hypoperistalsis syndrome
DISOB5GH: Megacystis-microcolon-intestinal hypoperistalsis syndrome 3
Disease Identifiers
MONDO ID
MONDO_0030294
UMLS CUI
C5543513
OMIM ID
619362
MedGen ID
1780019

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
LMOD1 OTZ2MEMG Limited Unknown [1]
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References

1 Loss of LMOD1 impairs smooth muscle cytocontractility and causes megacystis microcolon intestinal hypoperistalsis syndrome in humans and mice. Proc Natl Acad Sci U S A. 2017 Mar 28;114(13):E2739-E2747. doi: 10.1073/pnas.1620507114. Epub 2017 Mar 14.