visceral myopathy 1
MONDO:0020754Mondo
Findings
No curated finding names visceral myopathy 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
5 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.
- MegaduodenumHPOHP:0030996
- 6 of 6 reported patients
- Abdominal distentionHPOHP:0003270
- 1 of 6 reported patients
- GastroparesisHPOHP:0002578
- 1 of 6 reported patients
- Urinary retentionHPOHP:0000016
- 1 of 6 reported patients
- ConstipationHPOHP:0002019
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 · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Limited · Ambry Genetics · Autosomal recessive · 2023
Where it sits
- A kind of
Other names
1 name
Resolves to: visceral myopathy 1
- Also called
- visceral myopathy