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congenital myopathy 25 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

congenital myopathy 25

MONDO:0975808

Overview

GeneticsJPH1 (chr 8)

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.

JPH1 encodes junctophilin 1 (661 aa). Junctophilins contribute to the formation of junctional membrane complexes (JMCs) which link the plasma membrane with the endoplasmic or sarcoplasmic reticulum in excitable cells. Highest expression in Muscle Skeletal (140.0 TPM) and Brain Cerebellar Hemisphere (35.1 TPM).

Congenital myopathy 25 is associated with mutations in the JPH1 gene on chromosome 8.

JPH1 is classified as a druggable target (Ion Channel category) with score 0.0.

Diagnosis

Genetic testing for JPH1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for congenital myopathy 25 has been reported in the published literature.

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 congenital myopathy 25.

64 publications have been identified in PubMed for congenital myopathy 25. Research spans Epidemiology / Natural History (34%), Case Report / Case Series (31%), and Basic Science / Preclinical (16%).

Research Type	Count	% of Total
Disease patterns and progression	22	34%

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 11:21 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:620964

Questions for Your Care Team

→Should I pursue genetic testing for JPH1, 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?

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congenital myopathy 25

Overview

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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