dilated cardiomyopathy 1HH
Findings
No curated finding names dilated cardiomyopathy 1HH 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 BAG3 gene.
Definition from the Mondo Disease Ontology (MONDO:0013479), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Late onset · Middle age onset · Young adult onset
HPO, annotations 2026-09-02
Features
3 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.
- Dilated cardiomyopathyHPOHP:0001644
- 18 of 22 reported patients
- Increased left ventricular end-diastolic volumeHPOHP:0033755
- 12 of 18 reported patients
- Congestive heart failureHPOHP:0001635
- 10 of 23 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.
- BAG3HGNC:939
- Definitive · ClinGen · Autosomal dominant · 2026
- Definitive · G2P · Autosomal dominant · 2024
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
Other names
5 names
Resolves to: dilated cardiomyopathy 1HH
- Also called
- BAG3 familial isolated dilated cardiomyopathycardiomyopathy, dilated, type 1HhCMD1HHdilated cardiomyopathy type 1HHfamilial isolated dilated cardiomyopathy caused by mutation in BAG3