Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

hypertrophic cardiomyopathy 17 (CMH17) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hypertrophic cardiomyopathy 17

MONDO:0013474

Also known as:CMH17JPH2 hypertrophic cardiomyopathycardiomyopathy familial hypertrophic 17

Overview

Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the JPH2 gene.

GeneticsAutosomal dominant · JPH2 (chr 20)

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: Thickened heart muscle (hypertrophic cardiomyopathy), Dyspnea, and Thickened left heart wall (left ventricular hypertrophy); and common findings: Angina pectoris and Palpitations. 8 total HPO annotations.

Organ System	Phenotype Count	Example Features
Heart and blood vessels	6	Myocardial fibrosis, Thickened heart muscle (hypertrophic cardiomyopathy), Angina pectoris

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).

Hypertrophic cardiomyopathy 17 is 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.

Biomarker and diagnostic research for hypertrophic cardiomyopathy 17 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 3 always present features, 2 common 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 hypertrophic cardiomyopathy 17.

241 publications have been identified in PubMed for hypertrophic cardiomyopathy 17. Research spans Epidemiology / Natural History (27%), Diagnostic / Biomarker (18%), and Review / Meta-Analysis (17%).

Research Type	Count	% of Total
Disease patterns and progression	53	27%

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 3:53 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:613873

Questions for Your Care Team

→Should I pursue genetic testing for JPH2, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

Kisho

hypertrophic cardiomyopathy 17

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

hypertrophic cardiomyopathy 17

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications