familial visceral myopathy
Findings
No curated finding names familial visceral myopathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0016829), read 2026-09-29. CC BY 4.0.
Features
23 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- HydroureterHPOHP:0000072
- Very frequent (80% to 99% of cases)
- MegacystisHPOHP:0000021
- Very frequent (80% to 99% of cases)
- Vesicoureteral refluxHPOHP:0000076
- Very frequent (80% to 99% of cases)
- Abdominal distentionHPOHP:0003270
- Frequent (30% to 79% of cases)
- Aplasia/Hypoplasia of the abdominal wall musculatureHPOHP:0010318
- Frequent (30% to 79% of cases)
- Abdominal situs inversusHPOHP:0003363
- Occasional (5% to 29% of cases)
- Abnormal cardiovascular system morphology
Show the remaining 11
- Camptodactyly of fingerHPOHP:0100490
- Occasional (5% to 29% of cases)
- Cleft palateHPOHP:0000175
- Occasional (5% to 29% of cases)
- HyperparathyroidismHPOHP:0000843
- Occasional (5% to 29% of cases)
- Joint stiffnessHPOHP:0001387
- Occasional (5% to 29% of cases)
- MicrocephalyHPOHP:0000252
- Occasional (5% to 29% of cases)
- MicrognathiaHPOHP:0000347
- Occasional (5% to 29% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- ACTG2HGNC:145
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- Narrower terms (2)
Other names
3 names
Resolves to: familial visceral myopathy
- Also called
- familial hollow visceral myopathyhereditary hollow visceral myopathymegaduodenum and/or megacystis