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cardiomyopathy, dilated, 2E (CMD2E) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

cardiomyopathy, dilated, 2E

MONDO:0030366

Also known as:CMD2E

Overview

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.

GeneticsAutosomal recessive · JPH2 (chr 20)

OnsetINFANTILE, CONGENITAL

ResearchLimited published research (3 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Reduced systolic function and Enlarged and weakened heart (dilated cardiomyopathy); and sometimes findings: Ebstein anomaly of the tricuspid valve.

Organ System	Phenotype Count	Example Features
Heart and blood vessels	2	Reduced systolic function, Enlarged and weakened heart (dilated cardiomyopathy)

Age of onset: infancy, at birth.

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

JPH2 encodes junctophilin 2 (696 aa). Membrane-binding protein that provides a structural bridge between the plasma membrane and the sarcoplasmic reticulum and is required for normal excitation-contraction coupling in cardiomyocytes. Highest expression in Esophagus Muscularis (131.8 TPM) and Esophagus Gastroesophageal Junction (108.5 TPM).

Cardiomyopathy, dilated, 2E is strongly associated with mutations in the JPH2 gene on chromosome 20.

JPH2 is classified as a druggable target (Ion Channel category) with score 0.0.

Diagnosis

Genetic testing for JPH2 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 2 always present features.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for cardiomyopathy, dilated, 2E.

3 publications have been identified in PubMed for cardiomyopathy, dilated, 2E. Research spans Basic Science / Preclinical (100%).

Recent Publications

Li Z (2025). [PMID: 41291214](https://pubmed.ncbi.nlm.nih.gov/41291214/). *Commun Biol*. [Basic Science / Preclinical]
Yang Y (2024). [PMID: 39289582](https://pubmed.ncbi.nlm.nih.gov/39289582/). *Nat Cell Biol*. [Basic Science / Preclinical]
Yang Y (2024). [PMID: 38979311](https://pubmed.ncbi.nlm.nih.gov/38979311/). *bioRxiv*. [Basic Science / Preclinical]

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 4:29 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:619492

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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cardiomyopathy, dilated, 2E

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

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Questions for Your Care Team

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