dilated cardiomyopathy 1DD
Findings
No curated finding names dilated cardiomyopathy 1DD 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 RBM20 gene.
Definition from the Mondo Disease Ontology (MONDO:0013168), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Young adult 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.
- Dilated cardiomyopathyHPOHP:0001644
- 3 of 5 reported patients
- Sudden cardiac deathHPOHP:0001645
- 1 of 5 reported patients
- Congestive heart failureHPOHP:0001635
- 0 of 5 reported patients
- Left ventricular systolic dysfunctionHPOHP:0025169
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.
- RBM20HGNC:27424
- Definitive · G2P · Autosomal dominant · 2024
- Strong · Ambry Genetics · Autosomal dominant · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
Other names
5 names
Resolves to: dilated cardiomyopathy 1DD
- Also called
- cardiomyopathy, dilated, type 1DdCMD1DDdilated cardiomyopathy type 1DDfamilial isolated dilated cardiomyopathy caused by mutation in RBM20RBM20 familial isolated dilated cardiomyopathy