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hypertrophic cardiomyopathy 14 (CMH14) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hypertrophic cardiomyopathy 14

MONDO:0013197

Also known as:CMH14MYH6 hypertrophic cardiomyopathycardiomyopathy familial hypertrophic 14

Overview

Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYH6 gene.

GeneticsAutosomal dominant · MYH6 (chr 14)

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), Thickened left heart wall (left ventricular hypertrophy), Congestive heart failure, and Complete right bundle branch block and others.

Organ System	Phenotype Count	Example Features
Heart and blood vessels	7	Thickened heart muscle (hypertrophic cardiomyopathy), Thickened left heart wall (left ventricular hypertrophy), Congestive heart failure

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.

MYH6 encodes myosin heavy chain 6 (1,939 aa). Muscle contraction Highest expression in Heart Atrial Appendage (4,609 TPM) and Heart Left Ventricle (334.6 TPM).

Hypertrophic cardiomyopathy 14 is associated with mutations in the MYH6 gene on chromosome 14.

MYH6 is classified as a druggable target (Druggable Genome category) with score 2.5.

Diagnosis

Genetic testing for MYH6 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for hypertrophic cardiomyopathy 14 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 7 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 hypertrophic cardiomyopathy 14.

283 publications have been identified in PubMed for hypertrophic cardiomyopathy 14. Research spans Epidemiology / Natural History (24%), Review / Meta-Analysis (23%), and Basic Science / Preclinical (16%).

Research Type	Count	% of Total
Disease patterns and progression	68	24%

Data assembled from 5 of 12 sources · Last updated Nov 3, 2026, 2:37 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:613251

Questions for Your Care Team

→Should I pursue genetic testing for MYH6, 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 14

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 14

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