dilated cardiomyopathy 1O
Findings
No curated finding names dilated cardiomyopathy 1O 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 ABCC9 gene.
Definition from the Mondo Disease Ontology (MONDO:0012062), 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 · Adult onset
- Dilated cardiomyopathyHPOHP:0001644
- 3 of 3 reported patients
- Impaired myocardial contractilityHPOHP:0006670
- 3 of 3 reported patients
- Ventricular tachycardiaHPOHP:0004756
- 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.
- ABCC9HGNC:60
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2017
- Moderate · Ambry Genetics · Autosomal dominant · 2018
- Limited · ClinGen · Autosomal dominant · 2026
- Limited · Illumina · Autosomal dominant · 2019
Where it sits
Other names
5 names
Resolves to: dilated cardiomyopathy 1O
- Also called
- ABCC9 familial isolated dilated cardiomyopathycardiomyopathy, dilated, type 1OCMD1Odilated cardiomyopathy type 1Ofamilial isolated dilated cardiomyopathy caused by mutation in ABCC9