Details of Disease

General Information of Disease (ID: DISGJL4K)

Disease Name Familial visceral myopathy
Synonyms visceral myopathy familial; pseudoobstruction idiopathic intestinal; hereditary hollow visceral myopathy; megaduodenum and/or megacystis; familial hollow visceral myopathy
Definition
A rare hereditary myopathic degeneration of both gastrointestinal and urinary tracts that causes chronic intestinal pseudo-obstruction. It usually presents after the first decade of life with megaduodenum, megacystis and symptoms such as abdominal distension and/or pain, vomiting, constipation, diarrhea, dysphagia, and/or urinary tract infections.n.
Disease Hierarchy
DISBI73X: Intestinal motility disease
DIS5038N: Visceral myopathy 1
DISGJL4K: Familial visceral myopathy
Disease Identifiers
MONDO ID
MONDO_0016829
MESH ID
C562574
UMLS CUI
C0266833
MedGen ID
120590
Orphanet ID
2604
SNOMED CT ID
63684002

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 Supportive Autosomal dominant [1]
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References

1 Segregation of a missense variant in enteric smooth muscle actin -2 with autosomal dominant familial visceral myopathy. Gastroenterology. 2012 Dec;143(6):1482-1491.e3. doi: 10.1053/j.gastro.2012.08.045. Epub 2012 Sep 6.