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glycogen storage disease IX - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

glycogen storage disease IX

MONDO:0700291

Also known as:GSD IXGSD type 9GSD type IX

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Overview

A group of inborn errors of glycogen metabolism that is clinically and genetically heterogeneous. This group comprises GSD due to liver phosphorylase kinase (PhK) deficiency, GSD due to muscle PhK deficiency and GSD due to liver and muscle PhK deficiency.

Clinical Trials1 registered · 1 recruiting

Diagnosis

Biomarker and diagnostic research for glycogen storage disease IX has been reported in the published literature.

Prognosis

Estimated prevalence: 1-9 in 100,000 (Uncommon).

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.

1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

130 publications have been identified in PubMed for glycogen storage disease IX. Research spans Epidemiology / Natural History (27%), Case Report / Case Series (18%), and Review / Meta-Analysis (14%).

Research Type	Count	% of Total
Disease patterns and progression	35	27%

Data assembled from 4 of 12 sources · Last updated Sep 17, 2026, 9:29 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:370

Questions for Your Care Team

→Are any of the 1 active clinical trial a good fit for my situation?
→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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glycogen storage disease IX

Overview

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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