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polyglucosan body myopathy 1 with or without immunodeficiency (PGBM1) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

polyglucosan body myopathy 1 with or without immunodeficiency

MONDO:0014389

Also known as:PGBM1polyglucosan body myopathy type 1polyglucosan body myopathy, early-onset, with or without immunodeficiency

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Overview

A rare, genetic, glycogen storage disorder characterized by polyglucosan accumulation in various tissues, manifesting with progressive proximal muscle weakness in the lower limbs and rapidly progressive, usually dilated, cardiomyopathy. Hepatic involvement and growth retardation may be associated. Early-onset immunodeficiency and autoinflammation, presenting with recurrent bacterial infections, have also been reported.

GeneticsAutosomal recessive · RBCK1 (chr 20)

Clinical Trials1 registered · 1 recruiting

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: Failure to thrive; and common findings: Cholestasis, Lymphadenitis, Seizure, and Liver scarring (fibrosis) (hepatic fibrosis) and others. 37 total HPO annotations.

Organ System	Phenotype Count	Example Features
Digestive system	8	Cholestasis, Liver scarring (fibrosis) (hepatic fibrosis), Enlarged liver (hepatomegaly)

Genetic Landscape

RBCK1 function has not been fully characterized.

Polyglucosan body myopathy 1 with or without immunodeficiency is associated with mutations in the RBCK1 gene on chromosome 20.

Diagnosis

Genetic testing for RBCK1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 1 always present feature, 27 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

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.

207 publications have been identified in PubMed for polyglucosan body myopathy 1 with or without immunodeficiency. Kisho has analyzed 87 by research type. Research spans Review / Meta-Analysis (55%), Epidemiology / Natural History (13%), and Basic Science / Preclinical (10%).

Research Type	Count	% of Total
Research summaries	48

Data assembled from 7 of 12 sources · Last updated Sep 20, 2026, 2:35 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615895

Orphanet

European rare disease database

Orphanet:397937

GARD

Genetic and Rare Diseases Info Center

GARD:17643

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→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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Kisho

polyglucosan body myopathy 1 with or without immunodeficiency

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

polyglucosan body myopathy 1 with or without immunodeficiency

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications