polyglucosan body myopathy 1 with or without immunodeficiency
Findings
No curated finding names polyglucosan body myopathy 1 with or without immunodeficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0014389), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Neonatal onset · Progressive
HPO, annotations 2026-09-02
Features
29 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Failure to thriveHPOHP:0001508
- 3 of 3 reported patients
- Abdominal painHPOHP:0002027
- 2 of 3 reported patients
- Chronic diarrheaHPOHP:0002028
- 2 of 3 reported patients
- HematocheziaHPOHP:0002573
- 2 of 3 reported patients
- HepatomegalyHPOHP:0002240
- 2 of 3 reported patients
- Inflammation of the large intestineHPOHP:0002037
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- RBCK1HGNC:15864
- Definitive · ClinGen · Autosomal recessive · 2026
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Strong · G2P · Autosomal recessive · 2025
- Moderate · Genomics England PanelApp · Autosomal recessive · 2020
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
3 names
Resolves to: polyglucosan body myopathy 1 with or without immunodeficiency
- Also called
- PGBM1polyglucosan body myopathy type 1polyglucosan body myopathy, early-onset, with or without immunodeficiency