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hypertrophic cardiomyopathy 11 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hypertrophic cardiomyopathy 11

MONDO:0012799

Also known as:ACTC1 hypertrophic cardiomyopathyCMH11cardiomyopathy familial hypertrophic 11

Overview

Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the ACTC1 gene.

GeneticsAutosomal dominant · ACTC1 (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: Subaortic ventricular septal bulge, Thickened heart muscle (hypertrophic cardiomyopathy), and Palpitations; and sometimes findings: Ventricular fibrillation, Cardiac arrest, Angina pectoris, and Dyspnea and others.

Organ System	Phenotype Count	Example Features
Heart and blood vessels	13	Ventricular fibrillation, Cardiac arrest, Angina pectoris

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.

ACTC1 encodes actin alpha cardiac muscle 1 (377 aa). Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells Highest expression in Heart Atrial Appendage (3,412 TPM) and Heart Left Ventricle (2,298 TPM).

Hypertrophic cardiomyopathy 11 is associated with mutations in the ACTC1 gene on chromosome 15.

ACTC1 is classified as a druggable target with score 2.4.

36 pathogenic variants reported in ACTC1 in ClinVar, including hotspot variants 444338 and 315708.

Variant	Significance

Diagnosis

Genetic testing for ACTC1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for hypertrophic cardiomyopathy 11 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 3 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 11.

267 publications have been identified in PubMed for hypertrophic cardiomyopathy 11. Research spans Epidemiology / Natural History (28%), Clinical Trial Publication (20%), and Review / Meta-Analysis (18%).

Research Type	Count	% of Total
Disease patterns and progression	75	28%

Data assembled from 6 of 12 sources · Last updated Sep 18, 2026, 4:22 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:612098

Questions for Your Care Team

→Should I pursue genetic testing for ACTC1, 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 11

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 11

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