dilated cardiomyopathy 3B
MONDO:0010542Mondo
Findings
No curated finding names dilated cardiomyopathy 3B 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 DMD gene.
Definition from the Mondo Disease Ontology (MONDO:0010542), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked inheritance
- Onset and course
- Juvenile 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.
- Elevated circulating CK-MB concentrationHPOHP:0032232
- 4 of 4 reported patients
- Increased left ventricular end-diastolic volumeHPOHP:0033755
- 4 of 4 reported patients
- Dilated cardiomyopathyHPOHP:0001644
- Increased variability in muscle fiber diameterHPOHP:0003557
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.
- DMDHGNC:2928
- Definitive · Ambry Genetics · X-linked · 2015
- Definitive · Natera · X-linked recessive · 2022
Where it sits
Other names
5 names
Resolves to: dilated cardiomyopathy 3B
- Also called
- cardiomyopathy, dilated, type 3BCMD3Bdilated cardiomyopathy caused by mutation in DMDdilated cardiomyopathy type 3BDMD dilated cardiomyopathy