glycogen storage disease

Summary
Synonym
  • glycogenosis
Definition
A glycogen metabolism disorder that has_material_basis_in enzymes deficiencies necessary in the processing of glycogen synthesis or breakdown within muscles, liver, and other cell types.
Super Class
glycogen metabolism disorder
Disease Ontology
DOID:2747
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
WikiPathways (from TogoID)
Related Genes
Displaying all 8 entries
Gene ID Gene Symbol Description Source
2992 GYG1 glycogenin 1
2998 GYS2 glycogen synthase 2
5255 PHKA1 phosphorylase kinase regulatory subunit alpha 1
5256 PHKA2 phosphorylase kinase regulatory subunit alpha 2
5261 PHKG2 phosphorylase kinase catalytic subunit gamma 2
5836 PYGL glycogen phosphorylase L
6514 SLC2A2 solute carrier family 2 member 2
51422 PRKAG2 protein kinase AMP-activated non-catalytic subunit gamma 2
Displaying 1 entry
Gene ID Gene Symbol Description Source
140671 Phkg2 phosphorylase kinase catalytic subunit gamma 2
Displaying all 2 entries
Gene ID Gene Symbol Description Source
853155 PFK1 6-phosphofructokinase subunit alpha
855245 PFK2 6-phosphofructokinase subunit beta

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: April 7, 2025