dilated cardiomyopathy 1Y
Findings
No curated finding names dilated cardiomyopathy 1Y 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 TPM1 gene.
Definition from the Mondo Disease Ontology (MONDO:0012744), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset · Late onset · Middle age onset · Neonatal onset · Fetal onset · Young adult onset · Childhood onset
HPO, annotations 2026-09-02
Features
8 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.
- Left ventricular noncompaction cardiomyopathyHPOHP:0011664
- 9 of 10 reported patients
- Dilated cardiomyopathyHPOHP:0001644
- 5 of 8 reported patients
- Increased left ventricular end-diastolic volumeHPOHP:0033755
- 3 of 5 reported patients
- Congestive heart failureHPOHP:0001635
- 6 of 12 reported patients
- Ebstein anomaly of the tricuspid valveHPOHP:0010316
- 2 of 5 reported patients
- Atrial fibrillationHPOHP:0005110
- 1 of 5 reported patients
- Mitral regurgitation
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.
- TPM1HGNC:12010
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Moderate · ClinGen · Autosomal dominant · 2026
Where it sits
Other names
5 names
Resolves to: dilated cardiomyopathy 1Y
- Also called
- cardiomyopathy, dilated, type 1YCMD1Ydilated cardiomyopathy type 1Yfamilial isolated dilated cardiomyopathy caused by mutation in TPM1TPM1 familial isolated dilated cardiomyopathy