Details of Disease

General Information of Disease (ID: DIS5038N)

Disease Name Visceral myopathy 1
Synonyms megaduodenum and/or megacystis; pseudoobstruction, idiopathic intestinal; VSCM; infantile visceral myopathy; visceral myopathy 1; visceral myopathy
Disease Hierarchy
DISGPMUQ: Intestinal disorder
DIS5038N: Visceral myopathy 1
Disease Identifiers
MONDO ID
MONDO_0020754
UMLS CUI
C5542197
OMIM ID
155310
MedGen ID
1785391

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
ACTG2 OTRDWUO0 Strong Autosomal dominant [1]
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References

1 Familial visceral myopathy diagnosed by exome sequencing of a patient with chronic intestinal pseudo-obstruction. Endoscopy. 2014 Jun;46(6):533-7. doi: 10.1055/s-0034-1365142. Epub 2014 Apr 28.