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hypertrophic cardiomyopathy 10 (CMH10) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hypertrophic cardiomyopathy 10

MONDO:0012112

Also known as:CMH10MYL2 hypertrophic cardiomyopathycardiomyopathy, familial hypertrophic, 10

Overview

Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYL2 gene.

GeneticsAutosomal dominant · MYL2 (chr 12)

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: Thickened heart muscle (hypertrophic cardiomyopathy); and very common findings: Thickened left heart wall (left ventricular hypertrophy). 15 total HPO annotations.

Organ System	Phenotype Count	Example Features
Heart and blood vessels	10	Ventricular fibrillation, Thickened wall between heart chambers (ventricular septal hypertrophy), Left bundle branch block

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.

MYL2 encodes myosin light chain 2 (166 aa). Contractile protein that plays a role in heart development and function. Highest expression in Heart Left Ventricle (14,495 TPM) and Muscle Skeletal (12,093 TPM).

Hypertrophic cardiomyopathy 10 is associated with mutations in the MYL2 gene on chromosome 12.

MYL2 is classified as a druggable target with score 2.5.

Diagnosis

Genetic testing for MYL2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for hypertrophic cardiomyopathy 10 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 always present feature, 1 very common feature, 2 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 hypertrophic cardiomyopathy 10.

269 publications have been identified in PubMed for hypertrophic cardiomyopathy 10. Research spans Epidemiology / Natural History (24%), Clinical Trial Publication (19%), and Basic Science / Preclinical (19%).

Research Type	Count	% of Total
Disease patterns and progression	65	24%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 11:55 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:608758

Questions for Your Care Team

→Should I pursue genetic testing for MYL2, 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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hypertrophic cardiomyopathy 10

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

hypertrophic cardiomyopathy 10

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications