dilated cardiomyopathy 1BB
Findings
No curated finding names dilated cardiomyopathy 1BB 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 DSG2 gene.
Definition from the Mondo Disease Ontology (MONDO:0013030), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- 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.
- Congestive heart failureHPOHP:0001635
- 1 of 1 reported patient
- Dilated cardiomyopathyHPOHP:0001644
- 1 of 1 reported patient
- DyspneaHPOHP:0002094
- 1 of 1 reported patient
- Increased left ventricular end-diastolic volumeHPOHP:0033755
- 1 of 1 reported patient
- Left bundle branch blockHPOHP:0011713
- 1 of 1 reported patient
- Severely reduced left ventricular ejection fractionHPOHP:0012666
- 1 of 1 reported patient
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.
- DSG2HGNC:3049
- Limited · Ambry Genetics · Autosomal recessive · 2022
- Limited · ClinGen · Autosomal dominant · 2026
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
Where it sits
Other names
5 names
Resolves to: dilated cardiomyopathy 1BB
- Also called
- cardiomyopathy, dilated, type 1BbCMD1BBdilated cardiomyopathy type 1BBDSG2 familial isolated dilated cardiomyopathyfamilial isolated dilated cardiomyopathy caused by mutation in DSG2