disorder of glycogen metabolism
MONDO:0002412Mondo
Findings
No curated finding names disorder of glycogen metabolism yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An inherited metabolic disorder characterized either by defects in glycogen synthesis or defects in the breaking down of glycogen. It results either in the creation of abnormal forms of glycogen or accumulation of glycogen in the tissues.
Definition from the Mondo Disease Ontology (MONDO:0002412), read 2026-09-29. CC BY 4.0.
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.
- PYGMHGNC:9726
- Moderate · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- Narrower terms (24)
- autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis
- Danon disease
- glycogen storage disease due to GLUT2 deficiency
- glycogen storage disease due to glycogen branching enzyme deficiency
- glycogen storage disease due to lactate dehydrogenase deficiency
- glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
- glycogen storage disease due to liver phosphorylase kinase deficiency
- glycogen storage disease due to muscle and heart glycogen synthase deficiency
- glycogen storage disease due to muscle beta-enolase deficiency
- glycogen storage disease due to phosphoglycerate kinase 1 deficiency
- glycogen storage disease due to phosphoglycerate mutase deficiency
- glycogen storage disease I
- glycogen storage disease II
- glycogen storage disease III
Other names
9 names
Resolves to: disorder of glycogen metabolism
- Also called
- glycogen storage diseaseglycogen storage disorderglycogenosesglycogenosisGSDinborn error of glycogen metabolic processinborn glycogen metabolic process disorderinborn glycogen storage disorderrare inborn error of glycogen metabolic process