dilated cardiomyopathy 1R
Findings
No curated finding names dilated cardiomyopathy 1R yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the ACTC1 gene.
Definition from the Mondo Disease Ontology (MONDO:0013261), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Middle age onset · Juvenile onset · Young adult onset · Childhood onset
HPO, annotations 2026-09-02
Features
5 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Cardiomyocyte hypertrophyHPOHP:0031319
- 2 of 2 reported patients
- Interstitial cardiac fibrosisHPOHP:0031329
- 2 of 2 reported patients
- Increased left ventricular end-diastolic volumeHPOHP:0033755
- 6 of 8 reported patients
- Dilated cardiomyopathyHPOHP:0001644
- 5 of 8 reported patients
- Myofiber disarrayHPOHP:0031318
- 0 of 2 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- ACTC1HGNC:143
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2017
- Moderate · ClinGen · Autosomal dominant · 2026
Where it sits
Other names
5 names
Resolves to: dilated cardiomyopathy 1R
- Also called
- ACTC1 familial isolated dilated cardiomyopathycardiomyopathy, dilated, type 1RCMD1Rdilated cardiomyopathy type 1Rfamilial isolated dilated cardiomyopathy caused by mutation in ACTC1