glycogen storage disease III
Findings
No curated finding names glycogen storage disease III yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy.
Definition from the Mondo Disease Ontology (MONDO:0009291), read 2026-09-29. CC BY 4.0.
Features
8 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.
- Reduced muscle glycogen debrancher enzyme activityHPOHP:6000616
- 4 of 4 reported patients
- Full cheeksHPOHP:0000293
- Very frequent (80% to 99% of cases)
- HypertriglyceridemiaHPOHP:0002155
- Very frequent (80% to 99% of cases)
- HypoglycemiaHPOHP:0001943
- Very frequent (80% to 99% of cases)
- ImmunodeficiencyHPOHP:0002721
- Very frequent (80% to 99% of cases)
- Mild intellectual disabilityHPOHP:0001256
- Very frequent (80% to 99% of cases)
- Short statureHPOHP:0004322
- Very frequent (80% to 99% of cases)
- MyopathyHPOHP:0003198
- Frequent (30% to 79% of cases)
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.
- AGLHGNC:321
- Definitive · Ambry Genetics · Autosomal recessive · 2018
- Definitive · ClinGen · Autosomal recessive · 2023
- Definitive · Laboratory for Molecular Medicine · Autosomal recessive · 2020
- Definitive · Myriad Women's Health · Autosomal recessive · 2018
- Definitive · G2P · Autosomal recessive · 2025
- Definitive · Natera · Autosomal recessive · 2022
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
16 names
Resolves to: glycogen storage disease III
- Also called
- AGL glycogen storage diseaseamylo-1,6-glucosidase deficiencyCori diseaseCori-Forbes diseaseForbes diseaseGDE deficiencyglycogen storage disease caused by mutation in AGLglycogen storage disease type 3glycogen storage disease type IIIglycogenosis due to glycogen debranching enzyme deficiencyglycogenosis type 3glycogenosis type IIIGSD due to glycogen debranching enzyme deficiencyGSD type 3GSDIIIlimit dextrinosis