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Article

Genotype-phenotype correlation and management of Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome: a descriptive cohort study.

Orphanet journal of rare diseases - 12 Dec 2025

Hilberath Johannes, Tsiflikas Ilias, Sanders Anna, Lieber Justus, Luithle Tobias, Haack Tobias B, Sturm Ekkehard, Fuchs Jörg, Warmann Steven, Slavetinsky Christoph

Abstract excerpt

BACKGROUND: Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome (MMIHS) is a rare genetic visceral myopathy, with a historically high mortality rate. Its genetic and phenotypic variability and management options remain poorly characterized. This study correlates genotype with phenotype and subsequently analyzes treatment and outcome of patients with pediatric-onset MMIHS. RESULTS: We retrospectively...

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Topics

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 41387873
DOI: 10.1186/s13023-025-04154-9
PMCID: PMC12817443

Genes

ACTG2
LMOD1
MYH11
MYLK

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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