cardiomyopathy, dilated, 2E
Findings
No curated finding names cardiomyopathy, dilated, 2E yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A dilated cardiomyopathy that is characterized by neonatal or early childhood onset of dilated cardiomyopathy, with rapid progression to cardiac failure and death unless patients undergo cardiac transplantation and that has material basis in homozygous or compound heterozygous mutation in the JPH2 gene on chromosome 20q13.
Definition from the Mondo Disease Ontology (MONDO:0030366), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Death in infancy · Death in childhood
HPO, annotations 2026-09-02
Features
3 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
- 1 of 1 reported patient · Childhood onset
- 4 of 4 reported patients · Infantile onset
- Reduced systolic functionHPOHP:0006673
- 1 of 1 reported patient · Infantile onset
- Ebstein anomaly of the tricuspid valveHPOHP:0010316
- 1 of 4 reported patients · Congenital onset
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.
- JPH2HGNC:14202
- Strong · Ambry Genetics · Autosomal recessive · 2024
- Strong · ClinGen · Autosomal recessive · 2026
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2021
Where it sits
Other names
1 name
Resolves to: cardiomyopathy, dilated, 2E
- Also called
- CMD2E