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hypertrophic cardiomyopathy 3 (CMH3) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hypertrophic cardiomyopathy 3

MONDO:0007267

Also known as:CMH3TPM1 hypertrophic cardiomyopathycardiomyopathy familial hypertrophic 3

Overview

Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TPM1 gene.

GeneticsAutosomal dominant · TPM1 (chr 15)

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: Sudden cardiac death. 2 total HPO annotations.

Organ System	Phenotype Count	Example Features
Heart and blood vessels	2	Thickened heart muscle (hypertrophic cardiomyopathy), Sudden cardiac death

Explore clinical features

Genetic Landscape

TPM1 function has not been fully characterized.

Hypertrophic cardiomyopathy 3 is associated with mutations in the TPM1 gene on chromosome 15.

Diagnosis

Genetic testing for TPM1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for hypertrophic cardiomyopathy 3 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 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 3.

285 publications have been identified in PubMed for hypertrophic cardiomyopathy 3. Kisho has analyzed 155 by research type. Research spans Clinical Trial Publication (28%), Epidemiology / Natural History (23%), and Review / Meta-Analysis (15%).

Research Type	Count	% of Total
Clinical study results	43	28%

Data assembled from 5 of 12 sources · Last updated Oct 4, 2026, 7:57 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:115196

Questions for Your Care Team

→Should I pursue genetic testing for TPM1, 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 3

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

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Questions for Your Care Team

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