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GTR Home > Conditions/Phenotypes > Megacystis-microcolon-intestinal hypoperistalsis syndrome 5

Megacystis-microcolon-intestinal hypoperistalsis syndrome 5

Summary

Megacystis-microcolon-intestinal hypoperistalsis syndrome-5 (MMIHS5) is a form of visceral myopathy characterized by significant inter- and intrafamilial variability, with the most severely affected patients exhibiting prenatal bladder enlargement, intestinal malrotation, neonatal functional gastrointestinal obstruction, and chronic dependence on total parenteral nutrition (TPN) and urinary catheterization (Wangler et al., 2014). For a general phenotypic description and discussion of genetic heterogeneity of MMIHS, see MMIHS1 (249210). [from OMIM]

Available tests

5 tests are in the database for this condition.

Clinical tests (5 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ACT, ACTA3, ACTE, ACTL3, ACTSG, MMIHS5, VSCM, VSCM1, ACTG2
    Summary: actin gamma 2, smooth muscle

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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