dilated cardiomyopathy 1EE
Findings
No curated finding names dilated cardiomyopathy 1EE 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 MYH6 gene.
Definition from the Mondo Disease Ontology (MONDO:0013198), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Middle age onset
HPO, annotations 2026-09-02
Features
4 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
- 3 of 3 reported patients
- Dilated cardiomyopathyHPOHP:0001644
- 3 of 3 reported patients
- Increased left ventricular end-diastolic volumeHPOHP:0033755
- 3 of 3 reported patients
- Reduced left ventricular ejection fractionHPOHP:0012664
- 3 of 3 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.
- MYH6HGNC:7576
- Limited · ClinGen · Autosomal dominant · 2026
Where it sits
Other names
5 names
Resolves to: dilated cardiomyopathy 1EE
- Also called
- cardiomyopathy, dilated, type 1EeCMD1EEdilated cardiomyopathy type 1EEfamilial isolated dilated cardiomyopathy caused by mutation in MYH6MYH6 familial isolated dilated cardiomyopathy