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Megacystis-microcolon-intestinal hypoperistalsis syndrome 2

Summary

Megacystis-microcolon-intestinal hypoperistalsis syndrome-2 (MMIHS2) is characterized by prenatal bladder enlargement, neonatal functional gastrointestinal obstruction, and chronic dependence on total parenteral nutrition and urinary catheterization. The majority of cases have a fatal outcome due to malnutrition and sepsis, followed by multiorgan failure (summary by Wang et al., 2019). For a discussion of genetic heterogeneity of MMIHS, see 249210. [from OMIM]

Available tests

10 tests are in the database for this condition.

Clinical tests (10 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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