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visceral myopathy 2 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

visceral myopathy 2

MONDO:0859157

Overview

GeneticsAutosomal dominant · 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 common findings: Hiatus hernia, Megacystis, Difficulty swallowing (dysphagia), and Gastroesophageal reflux and others; and sometimes findings: Megaduodenum, Ineffective esophageal peristalsis, Intestinal obstruction, and Intestinal pseudo-obstruction and others.

Organ System	Phenotype Count	Example Features
Digestive system	11	Difficulty swallowing (dysphagia), Ineffective esophageal peristalsis, Intestinal obstruction

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).

Visceral myopathy 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.

Biomarker and diagnostic research for visceral myopathy 2 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 5 common 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 visceral myopathy 2.

91 publications have been identified in PubMed for visceral myopathy 2. Research spans Case Report / Case Series (36%), Review / Meta-Analysis (21%), and Epidemiology / Natural History (14%).

Research Type	Count	% of Total
Patient case studies	33	36%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 1:05 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:619350

GARD

Genetic and Rare Diseases Info Center

GARD:16446

Questions for Your Care Team

→Should I pursue genetic testing for MYH11, and what would the results mean for my family?
→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

visceral myopathy 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

visceral myopathy 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