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hypertrophic cardiomyopathy 16 (CMH16) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hypertrophic cardiomyopathy 16

MONDO:0013455

Also known as:CMH16MYOZ2 hypertrophic cardiomyopathycardiomyopathy familial hypertrophic 16

Overview

Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYOZ2 gene.

GeneticsAutosomal dominant · MYOZ2 (chr 4)

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 common findings: Palpitations. 12 total HPO annotations.

Organ System	Phenotype Count	Example Features
Heart and blood vessels	7	Atrial fibrillation, Left bundle branch block, Reduced left ventricular ejection fraction

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.

MYOZ2 encodes myozenin 2 (264 aa). Myozenins may serve as intracellular binding proteins involved in linking Z line proteins such as alpha-actinin, gamma-filamin, TCAP/telethonin, LDB3/ZASP and localizing calcineurin signaling to the sarcomere. Highest expression in Heart Left Ventricle (464.7 TPM) and Heart Atrial Appendage (393.6 TPM).

Hypertrophic cardiomyopathy 16 is associated with mutations in the MYOZ2 gene on chromosome 4.

MYOZ2 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for MYOZ2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for hypertrophic cardiomyopathy 16 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 always present feature, 1 common feature.

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 16.

259 publications have been identified in PubMed for hypertrophic cardiomyopathy 16. Research spans Epidemiology / Natural History (28%), Clinical Trial Publication (17%), and Review / Meta-Analysis (17%).

Research Type	Count	% of Total
Disease patterns and progression	72	28%

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:613838

Questions for Your Care Team

→Should I pursue genetic testing for MYOZ2, 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 16

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

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hypertrophic cardiomyopathy 16

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