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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] |
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| 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] |
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| H01948 |
Glycogen storage disease type IX Phosphorylase kinase deficiency |
... and growth delay. GSD IXd, also known as X-linked muscle glycogenosis, is caused by mutation in the PHKA1 gene, which encodes the alpha subunit of muscle phosphorylase kinase. The typical clinical signs ... | Inherited metabolic disorder |
(GSD IXa) PHKA2 [HSA:5256] [KO:K07190] (GSD IXb) PHKB [HSA:5257] [KO:K07190] (GSD IXc) PHKG2 [HSA:5261] [KO:K00871] (GSD IXd) PHKA1 [HSA:5255] [KO:K07190] |
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