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glycogen storage disease IXa2 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

glycogen storage disease IXa2

MONDO:0100439

Also known as:GSD IXa2GSD9A2liver glycogenosis, X-linked, type 2

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Overview

Any glycogen storage disease in which the cause of the disease is a mutation in the PHKA2 gene, with no PHK in liver, but normal activity in erythrocytes.

Clinical Trials1 registered · 1 recruiting

ResearchLimited published research (3 articles)

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.

3 publications have been identified in PubMed for glycogen storage disease IXa2. Research spans Epidemiology / Natural History (67%) and Case Report / Case Series (33%).

Recent Publications

Zhang Q (2025). [PMID: 39396772](https://pubmed.ncbi.nlm.nih.gov/39396772/). *The Canadian journal of cardiology*. [Case Report / Case Series]
El-Karaksy H (2025). [PMID: 41165782](https://pubmed.ncbi.nlm.nih.gov/41165782/). *Human genetics*. [Epidemiology / Natural History]
Geramizadeh B (2024). [PMID: 39707443](https://pubmed.ncbi.nlm.nih.gov/39707443/). *Orphanet journal of rare diseases*. [Epidemiology / Natural History]

Data assembled from 3 of 12 sources · Last updated Sep 19, 2026, 6:54 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

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 IXa2

Overview

Research Landscape

Recent Publications

Medical References

Related Diseases

Questions for Your Care Team

Questions for Your Care Team