cardiomyopathy, dilated, 2F
Findings
No curated finding names cardiomyopathy, dilated, 2F yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A dilated cardiomyopathy that is characterized by refractory ventricular arrhythmias and severe heart failure and that has material basis in homozygous mutation in the BAG5 gene on chromosome 14q32.
Definition from the Mondo Disease Ontology (MONDO:0030680), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Juvenile onset · Young adult onset
HPO, annotations 2026-09-02
Features
7 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.
- Congestive heart failureHPOHP:0001635
- 5 of 5 reported patients
- Dilated cardiomyopathyHPOHP:0001644
- 5 of 5 reported patients
- Increased circulating brain natriuretic peptide concentrationHPOHP:0033534
- Increased left ventricular end-diastolic volumeHPOHP:0033755
- Severely reduced left ventricular ejection fractionHPOHP:0012666
- Ventricular fibrillationHPOHP:0001663
- Ventricular tachycardiaHPOHP:0004756
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.
- BAG5HGNC:941
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2024
- Moderate · ClinGen · Autosomal recessive · 2026
Where it sits
Other names
1 name
Resolves to: cardiomyopathy, dilated, 2F
- Also called
- CMD2F