dilated cardiomyopathy 1NN
Findings
No curated finding names dilated cardiomyopathy 1NN 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 RAF1 gene.
Definition from the Mondo Disease Ontology (MONDO:0014396), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Middle age onset · Juvenile onset · Young adult onset · Childhood 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
- 10 of 10 reported patients
- Dilated cardiomyopathyHPOHP:0001644
- 10 of 10 reported patients
- Mitral regurgitationHPOHP:0001653
- 10 of 10 reported patients
- Reduced left ventricular ejection fractionHPOHP:0012664
- 10 of 10 reported patients
- Abnormal ST segmentHPOHP:0012249
- 9 of 10 reported patients
- Increased left ventricular end-diastolic volumeHPOHP:0033755
- 8 of 10 reported patients
- Ventricular arrhythmia
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.
- RAF1HGNC:9829
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2017
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Limited · Ambry Genetics · Autosomal dominant · 2018
Where it sits
Other names
5 names
Resolves to: dilated cardiomyopathy 1NN
- Also called
- cardiomyopathy, dilated, type 1NnCMD1NNdilated cardiomyopathy type 1NNfamilial isolated dilated cardiomyopathy caused by mutation in RAF1RAF1 familial isolated dilated cardiomyopathy