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hypertrophic cardiomyopathy 13 (CMH13) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hypertrophic cardiomyopathy 13

MONDO:0013195

Also known as:CMH13TNNC1 hypertrophic cardiomyopathycardiomyopathy familial hypertrophic 13

Overview

Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TNNC1 gene.

GeneticsAutosomal dominant · TNNC1 (chr 3)

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: Concentric hypertrophic cardiomyopathy, Left anterior fascicular block, Complete right bundle branch block, and Thickened heart muscle (hypertrophic cardiomyopathy) and others; and common findings: Angina pectoris. 14 total HPO annotations.

Organ System	Phenotype Count	Example Features
Heart and blood vessels	8	Ventricular fibrillation, Concentric hypertrophic cardiomyopathy, Angina pectoris

Genetic Landscape

TNNC1 function has not been fully characterized.

Hypertrophic cardiomyopathy 13 is associated with mutations in the TNNC1 gene on chromosome 3.

Diagnosis

Genetic testing for TNNC1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for hypertrophic cardiomyopathy 13 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 5 always present features, 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 13.

279 publications have been identified in PubMed for hypertrophic cardiomyopathy 13. Research spans Epidemiology / Natural History (26%), Clinical Trial Publication (18%), and Review / Meta-Analysis (15%).

Research Type	Count	% of Total
Disease patterns and progression	73	26%

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:613243

Questions for Your Care Team

→Should I pursue genetic testing for TNNC1, 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 13

Overview

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Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

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hypertrophic cardiomyopathy 13

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

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Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications