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Entry Name Description Category Pathway Gene
H00069 Glycogen storage disease Glycogen storage disease (GSD) is an autosomal recessive (all types except IXa and IXd) or X-linked (types IXa and IXd) disorder with symptoms ranging from weakness to growth abnormalities. GSD is caused ... Inherited metabolic disorder (GSD1A) G6PC1 [HSA:2538] [KO:K01084]
(GSD1B/1C) SLC37A4 [HSA:2542] [KO:K08171]
(GSD2) GAA [HSA:2548] [KO:K12316]
(GSD3) AGL [HSA:178] [KO:K01196]
(GSD4) GBE1 [HSA:2632] [KO:K00700]
(GSD5) PYGM [HSA:5837] [KO:K00688]
(GSD6) PYGL [HSA:5836] [KO:K00688]
(GSD7) PFKM [HSA:5213] [KO:K00850]
(GSD9A) PHKA2 [HSA:5256] [KO:K07190]
(GSD9B) PHKB [HSA:5257] [KO:K07190]
(GSD9C) PHKG2 [HSA:5261] [KO:K00871]
(GSD9D) PHKA1 [HSA:5255] [KO:K07190]
(GSD10) PGAM2 [HSA:5224] [KO:K01834]
(GSDXI/FBS) SLC2A2 [HSA:6514] [KO:K07593]
(GSD11) LDHA [HSA:3939] [KO:K00016]
(GSD12) ALDOA [HSA:226] [KO:K01623]
(GSD13) ENO3 [HSA:2027] [KO:K01689]
(GSD14) PGM1 [HSA:5236] [KO:K01835]
(GSD15) GYG1 [HSA:2992] [KO:K00750]
(GSDH) PRKAG2 [HSA:51422] [KO:K07200]
(GSD0A) GYS2 [HSA:2998] [KO:K00693]
(GSD0B) GYS1 [HSA:2997] [KO:K00693]
H01760 Hepatic glycogen storage disease Glycogen storage diseases (GSD) are inherited metabolic disorders of glycogen metabolism. They are divided into types 0 to XV, according to enzyme or transporter deficiency and organ distribution. The ... Inherited metabolic disorder (GSB Ia) G6PC [HSA:2538] [KO:K01084]
(GSB Ib) SLC37A4 [HSA:2542] [KO:K08171]
(GSB IIIa/b) AGL [HSA:178] [KO:K01196]
(GSB IV) GBE1 [HSA:2632] [KO:K00700]
(GSB VI) PYGL [HSA:5836] [KO:K00688]
(GSB IX) PHKA2 [HSA:5256] [KO:K07190]
(GSB IXb) PHKB [HSA:5257] [KO:K07190]
(GSB IXc) PHKG2 [HSA:5261] [KO:K00871]
(GSB 0a) GYS2 [HSA:2998] [KO:K00693]
H01762 Muscle glycogen storage disease Glycogen storage diseases (GSD) are inherited metabolic disorders of glycogen metabolism. They are divided into types 0 to XV, according to enzyme or transporter deficiency and organ distribution. Disorders ... Inherited metabolic disorder (GSD II) GAA [HSA:2548] [KO:K12316]
(GSD III) AGL [HSA:178] [KO:K01196]
(GSD IV) GBE1 [HSA:2632] [KO:K00700]
(GSD V) PYGM [HSA:5837] [KO:K00688]
(GSD VII) PFKM [HSA:5213] [KO:K00850]
(GSD IXd) PHKA1 [HSA:5255] [KO:K07190]
(GSD X) PGAM2 [HSA:5224] [KO:K01834]
(GSD XI) LDHA [HSA:3939] [KO:K00016]
(GSD XII) ALDOA [HSA:226] [KO:K01623]
(GSD XIII) ENO3 [HSA:2027] [KO:K01689]
(GSD XIV) PGM1 [HSA:5236] [KO:K01835]
(GSD XV) GYG1 [HSA:2992] [KO:K00750]
(GSB 0) GYS1 [HSA:2997] [KO:K00693]
H01942 Glycogen storage disease type IV
Andersen disease 		... disease, is an autosomal recessive disorder of glycogen metabolism. GSD-IV is caused by mutations in the GBE1 gene, which encodes the glycogen branching enzyme. The typical presentation is liver disease of ... Inherited metabolic disorder GBE1 [HSA:2632] [KO:K00700]
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