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
External Links
Disease Ontology
DOID:2747
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
WikiPathways (from TogoID)
Related Genes
Displaying entries 11 - 20 of 68 in total
Gene ID Gene Symbol Description Source
2538 G6PC1 glucose-6-phosphatase catalytic subunit 1
2539 G6PD glucose-6-phosphate dehydrogenase
2542 SLC37A4 solute carrier family 37 member 4
2548 GAA alpha glucosidase
2582 GALE UDP-galactose-4-epimerase
2584 GALK1 galactokinase 1
2592 GALT galactose-1-phosphate uridylyltransferase
2632 GBE1 1,4-alpha-glucan branching enzyme 1
2717 GLA galactosidase alpha
2821 GPI glucose-6-phosphate isomerase
Displaying all 10 entries
Gene ID Gene Symbol Description Source
18641 Pfkl phosphofructokinase, liver, B-type
18642 Pfkm phosphofructokinase, muscle
18679 Phka1 phosphorylase kinase alpha 1
27357 Gyg1 glycogenin 1
56421 Pfkp phosphofructokinase, platelet
68961 Phkg2 phosphorylase kinase, gamma 2 (testis)
108099 Prkag2 protein kinase, AMP-activated, gamma 2 non-catalytic subunit
110094 Phka2 phosphorylase kinase alpha 2
110095 Pygl liver glycogen phosphorylase
232493 Gys2 glycogen synthase 2
Displaying all 7 entries
Gene ID Gene Symbol Description Source
25623 Gys2 glycogen synthase 2
25741 Pfkl phosphofructokinase, liver type
60416 Pfkp phosphofructokinase, platelet
64035 Pygl glycogen phosphorylase L
65152 Pfkm phosphofructokinase, muscle
81675 Gyg1 glycogenin 1
140671 Phkg2 phosphorylase kinase catalytic subunit gamma 2
Displaying all 5 entries
Gene ID Gene Symbol Description Source
31839 CG7766 uncharacterized protein
33386 Glyp Glycogen phosphorylase
36060 Pfk Phosphofructokinase
37419 Gyg Glycogenin
41823 Glys Glycogen synthase
Displaying all 3 entries
Gene ID Gene Symbol Description Source
373082 gys2 glycogen synthase 2
406831 gyg1a glycogenin 1a
415152 gyg1b glycogenin 1b
Displaying all 3 entries
Gene ID Gene Symbol Description Source Organism
394883 gyg1 glycogenin 1 Xenopus tropicalis (tropical clawed frog)
446485 gyg1.S glycogenin 1 S homeolog Xenopus laevis (African clawed frog)
779133 gyg1.L glycogenin 1 L homeolog Xenopus laevis (African clawed frog)
Displaying all 5 entries
Gene ID Gene Symbol Description Source
174924 gsy-1 Glycogen [starch] synthase
176149 C14B9.8 Phosphorylase b kinase regulatory subunit;putative phosphorylase b kinase regulatory subunit alpha
179335 pfk-1.2 ATP-dependent 6-phosphofructokinase 2
180119 gyg-2 glycogenin glucosyltransferase
180583 pfk-1.1 ATP-dependent 6-phosphofructokinase 1
Displaying all 6 entries
Gene ID Gene Symbol Description Source
850569 GSY1 glycogen (starch) synthase GSY1
850962 GSY2 glycogen (starch) synthase GSY2
853155 PFK1 6-phosphofructokinase subunit alpha
853932 GLG1 glycogenin glucosyltransferase GLG1
855245 PFK2 6-phosphofructokinase subunit beta
856289 GPH1 glycogen phosphorylase
Related Glycoprotein

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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: August 19, 2024