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GTR Home > Conditions/Phenotypes > Visceral myopathy 2

Visceral myopathy 2

Summary

Visceral myopathy-2 (VSCM2) is characterized by gastrointestinal symptoms resulting from intestinal dysmotility and paresis, including abdominal distention, pain, nausea, and vomiting. Some patients exhibit predominantly esophageal symptoms, with hiatal hernia and severe reflux resulting in esophagitis and stricture, whereas others experience chronic intestinal pseudoobstruction. Bladder involvement resulting in megacystis and megaureter has also been observed and may be evident at birth (Dong et al., 2019; Gilbert et al. (2020)). [from OMIM]

Available tests

7 tests are in the database for this condition.

Clinical tests (7 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: AAT4, FAA4, SMHC, SMMHC, SMMS-1, VSCM2, MYH11
    Summary: myosin heavy chain 11

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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