cardiomyopathy, dilated, 2K
MONDO:0971175Mondo
Findings
No curated finding names cardiomyopathy, dilated, 2K yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Juvenile onset · Young adult onset
HPO, annotations 2026-09-02
Features
11 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
- 1 of 1 reported patient
- Dilated cardiomyopathyHPOHP:0001644
- 4 of 4 reported patients
- DyspneaHPOHP:0002094
- 1 of 1 reported patient
- Elevated circulating NT-proBNP concentrationHPOHP:0031185
- 2 of 2 reported patients
- Mildly reduced left ventricular ejection fractionHPOHP:0012663
- 1 of 1 reported patient
- Moderately reduced left ventricular ejection fractionHPOHP:0012665
- 1 of 1 reported patient
- Myocardial fibrosisHPOHP:0001685
- 4 of 4 reported patients
- PalpitationsHPOHP:0001962
- 1 of 1 reported patient
- Ventricular tachycardiaHPOHP:0004756
- 3 of 4 reported patients
- Premature ventricular contractionHPOHP:0006682
- 1 of 2 reported patients
- Severely reduced left ventricular ejection fractionHPOHP:0012666
- 2 of 4 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.
- MYZAPHGNC:43444
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · ClinGen · Autosomal recessive · 2026
Where it sits
- A kind of