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megacystis-microcolon-intestinal hypoperistalsis syndrome 2 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

megacystis-microcolon-intestinal hypoperistalsis syndrome 2

MONDO:0025708

Also known as:MMIHS2

Overview

GeneticsAutosomal recessive · MYH11 (chr 16)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Oligohydramnios, Peritonitis, Megacystis, and Pulmonary hypoplasia and others.

Organ System	Phenotype Count	Example Features
Lungs and breathing	4	Pulmonary hypoplasia, Bronchomalacia, Elevated pulmonary artery pressure

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

MYH11 encodes myosin heavy chain 11 (1,972 aa). Muscle contraction Highest expression in Esophagus Muscularis (8,418 TPM) and Colon Sigmoid (7,101 TPM).

Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 is associated with mutations in the MYH11 gene on chromosome 16.

The MYH11 protein participates in Smooth muscle/non-muscle myosin II, p-T19-MRLC-Smooth muscle/non-muscle myosin II, and p-T19,S20-MRLC-smooth muscle/non-muscle myosin II pathways.

MYH11 is classified as a druggable target (Clinically Actionable category) with score 0.0.

Diagnosis

Genetic testing for MYH11 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 21 always present features.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for megacystis-microcolon-intestinal hypoperistalsis syndrome 2.

12 publications have been identified in PubMed for megacystis-microcolon-intestinal hypoperistalsis syndrome 2. Research spans Review / Meta-Analysis (42%), Case Report / Case Series (42%), and Basic Science / Preclinical (8%).

Research Type	Count	% of Total
Research summaries	5	42%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 6:52 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:619351

GARD

Genetic and Rare Diseases Info Center

GARD:16447

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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Kisho

megacystis-microcolon-intestinal hypoperistalsis syndrome 2

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

megacystis-microcolon-intestinal hypoperistalsis syndrome 2

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications