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dilated cardiomyopathy 1R - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

dilated cardiomyopathy 1R

MONDO:0013261

Also known as:ACTC1 familial isolated dilated cardiomyopathyCMD1Rcardiomyopathy, dilated, type 1R

Overview

Any familial isolated dilated 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 always present findings: Interstitial cardiac fibrosis and Cardiomyocyte hypertrophy; and common findings: Increased left ventricular end-diastolic volume and Enlarged and weakened heart (dilated cardiomyopathy). 10 total HPO annotations.

Organ System	Phenotype Count	Example Features
Heart and blood vessels	8	Interstitial cardiac fibrosis, Left ventricular noncompaction, Increased left ventricular end-diastolic volume

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).

Dilated cardiomyopathy 1R has been 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 supportive for diagnosis.

Prognosis

Phenotype severity distribution: 2 always present features, 2 common features.

Data assembled from 6 of 12 sources · Last updated Sep 18, 2026, 8:54 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:613424

GARD

Genetic and Rare Diseases Info Center

GARD:15661

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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dilated cardiomyopathy 1R

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

Questions for Your Care Team

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