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glycogen storage disease due to liver phosphorylase kinase deficiency - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

glycogen storage disease due to liver phosphorylase kinase deficiency

MONDO:0020693

Overview

A benign form of phosphorylase kinase deficiency caused by variants in PHKA2 or PHKG2 and characterized by hepatomegaly, growth retardation, and mild delay in motor development during childhood.

Diagnosis

Biomarker and diagnostic research for glycogen storage disease due to liver phosphorylase kinase deficiency has been reported in the published literature.

Prognosis

Estimated prevalence: Unknown (Unknown prevalence).

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 glycogen storage disease due to liver phosphorylase kinase deficiency.

15 publications have been identified in PubMed for glycogen storage disease due to liver phosphorylase kinase deficiency. Research spans Review / Meta-Analysis (40%), Epidemiology / Natural History (20%), and Diagnostic / Biomarker (13%).

Research Type	Count	% of Total
Research summaries	6	40%

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 5:40 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:264580

GARD

Genetic and Rare Diseases Info Center

GARD:17261

Questions for Your Care Team

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glycogen storage disease due to liver phosphorylase kinase deficiency

Overview

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Recent Publications