dilated cardiomyopathy 1KK
Findings
No curated finding names dilated cardiomyopathy 1KK yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any dilated cardiomyopathy in which the cause of the disease is a mutation in the MYPN gene.
Definition from the Mondo Disease Ontology (MONDO:0014100), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Late onset · Middle age onset · Juvenile onset · Young adult onset
HPO, annotations 2026-09-02
Features
6 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
- 11 of 11 reported patients
- Increased left ventricular end-diastolic volumeHPOHP:0033755
- 8 of 10 reported patients
- Congestive heart failureHPOHP:0001635
- 5 of 11 reported patients
- Left ventricular hypertrophyHPOHP:0001712
- 3 of 11 reported patients
- Atrial fibrillationHPOHP:0005110
- 1 of 11 reported patients
- Mitral regurgitationHPOHP:0001653
- 1 of 11 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.
- MYPNHGNC:23246
- Limited · ClinGen · Autosomal dominant · 2026
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
Where it sits
Other names
6 names
Resolves to: dilated cardiomyopathy 1KK
- Also called
- cardiomyopathy, dilated, type 1Kkcardiomyopathy, hypertrophic, 22CMD1KKdilated cardiomyopathy caused by mutation in MYPNdilated cardiomyopathy type 1KKMYPN dilated cardiomyopathy