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"Glycogen storage disease" information

LiverAtlas Disease IDHuLDi00177
NameGlycogen storage disease
Description Xref:
Definition1.A group of inherited metabolic disorders involving the enzymes responsible for the synthesis and degradation of glycogen. In some patients, prominent liver involvement is presented. In others, more generalized storage of glycogen occurs, sometimes with prominent cardiac involvement. Xref: MeSH2011_6_17:D006008
2.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. Xref: UMLS2011AA:C0017919
3.Any of a group of metabolic disorders characterized by excessive storage of glycogen. Xref: UMLS2011AA:C0017919
Synonym3, GlycogenosisNARROW Xref: MeSH2011_6_17:D006010
Acid Maltase DeficienciesNARROW Xref: MeSH2011_6_17:D006009
Acid Maltase DeficiencyNARROW Xref: MeSH2011_6_17:D006009
Acid Maltase Deficiency DiseaseNARROW Xref: MeSH2011_6_17:D006009
Adult Glycogen Storage Disease Type IINARROW Xref: MeSH2011_6_17:D006009
Alpha 1,4 Glucosidase DeficiencyNARROW Xref: MeSH2011_6_17:D006009
Alpha-1,4-Glucosidase DeficienciesNARROW Xref: MeSH2011_6_17:D006009
Alpha-1,4-Glucosidase DeficiencyNARROW Xref: MeSH2011_6_17:D006009
AmylopectinosesNARROW Xref: MeSH2011_6_17:D006011
AmylopectinosisNARROW Xref: MeSH2011_6_17:D006011
Andersen DiseaseNARROW Xref: Clinical Hepatology, 2004:Page 789
Andersen DiseaseNARROW Xref: MeSH2011_6_17:D006011
Andersen's DiseaseNARROW Xref: MeSH2011_6_17:D006011
Andersens DiseaseNARROW Xref: MeSH2011_6_17:D006011
Brancher DeficienciesNARROW Xref: MeSH2011_6_17:D006011
Brancher DeficiencyNARROW Xref: MeSH2011_6_17:D006011
Cardiomyopathies, Glycogen StorageNARROW Xref: MeSH2011_6_17:D052120
Cardiomyopathy, Glycogen StorageNARROW Xref: MeSH2011_6_17:D052120
Cori diseaseNARROW Xref: Clinical Hepatology, 2004:Page 789
Cori DiseaseNARROW Xref: MeSH2011_6_17:D006010
Cori's DiseaseNARROW Xref: MeSH2011_6_17:D006010
Coris DiseaseNARROW Xref: MeSH2011_6_17:D006010
Danon DiseaseNARROW Xref: MeSH2011_6_17:D052120
Debrancher DeficienciesNARROW Xref: MeSH2011_6_17:D006010
Debrancher Deficiencies, GlycogenNARROW Xref: MeSH2011_6_17:D006010
Debrancher DeficiencyNARROW Xref: MeSH2011_6_17:D006010
Debrancher Deficiency, GlycogenNARROW Xref: MeSH2011_6_17:D006010
Deficiencies, Acid MaltaseNARROW Xref: MeSH2011_6_17:D006009
Deficiencies, Alpha-1,4-GlucosidaseNARROW Xref: MeSH2011_6_17:D006009
Deficiencies, BrancherNARROW Xref: MeSH2011_6_17:D006011
Deficiencies, DebrancherNARROW Xref: MeSH2011_6_17:D006010
Deficiencies, Glucose-6-PhosphataseNARROW Xref: MeSH2011_6_17:D005953
Deficiencies, GlucosephosphataseNARROW Xref: MeSH2011_6_17:D005953
Deficiencies, Glycogen DebrancherNARROW Xref: MeSH2011_6_17:D006010
Deficiencies, Muscle PhosphofructokinaseNARROW Xref: MeSH2011_6_17:D006014
Deficiencies, Muscle PhosphorylaseNARROW Xref: MeSH2011_6_17:D006012
Deficiency Disease, Acid MaltaseNARROW Xref: MeSH2011_6_17:D006009
Deficiency Disease, Lysosomal alpha-1,4-GlucosidaseNARROW Xref: MeSH2011_6_17:D006009
Deficiency, Acid MaltaseNARROW Xref: MeSH2011_6_17:D006009
Deficiency, Alpha-1,4-GlucosidaseNARROW Xref: MeSH2011_6_17:D006009
Deficiency, BrancherNARROW Xref: MeSH2011_6_17:D006011
Deficiency, DebrancherNARROW Xref: MeSH2011_6_17:D006010
Deficiency, Glucose-6-PhosphataseNARROW Xref: MeSH2011_6_17:D005953
Deficiency, GlucosephosphataseNARROW Xref: MeSH2011_6_17:D005953
Deficiency, Glycogen DebrancherNARROW Xref: MeSH2011_6_17:D006010
Deficiency, Muscle PhosphofructokinaseNARROW Xref: MeSH2011_6_17:D006014
Deficiency, Muscle PhosphorylaseNARROW Xref: MeSH2011_6_17:D006012
Dextrinoses, LimitNARROW Xref: MeSH2011_6_17:D006010
Dextrinosis, LimitNARROW Xref: MeSH2011_6_17:D006010
Disease, AndersenNARROW Xref: MeSH2011_6_17:D006011
Disease, Andersen'sNARROW Xref: MeSH2011_6_17:D006011
Disease, CoriNARROW Xref: MeSH2011_6_17:D006010
Disease, Cori'sNARROW Xref: MeSH2011_6_17:D006010
Disease, ForbesNARROW Xref: MeSH2011_6_17:D006010
Disease, GierkeNARROW Xref: MeSH2011_6_17:D005953
Disease, Gierke'sNARROW Xref: MeSH2011_6_17:D005953
Disease, Glycogen StorageEXACT Xref: MeSH2011_6_17:D006008
Disease, HersNARROW Xref: MeSH2011_6_17:D006013
Disease, Hers'NARROW Xref: MeSH2011_6_17:D006013
Disease, McArdleNARROW Xref: MeSH2011_6_17:D006012
Disease, McArdle'sNARROW Xref: MeSH2011_6_17:D006012
Disease, PompeNARROW Xref: MeSH2011_6_17:D006009
Disease, Pompe'sNARROW Xref: MeSH2011_6_17:D006009
Disease, TaruiNARROW Xref: MeSH2011_6_17:D006014
Disease, Tarui'sNARROW Xref: MeSH2011_6_17:D006014
Disease, von GierkeNARROW Xref: MeSH2011_6_17:D005953
Disease, von Gierke'sNARROW Xref: MeSH2011_6_17:D005953
Diseases, Glycogen StorageEXACT Xref: MeSH2011_6_17:D006008
Forbes DiseaseNARROW Xref: MeSH2011_6_17:D006010
Generalized GlycogenosesNARROW Xref: MeSH2011_6_17:D006009
Generalized GlycogenosisNARROW Xref: MeSH2011_6_17:D006009
Gierke DiseaseNARROW Xref: MeSH2011_6_17:D005953
Gierke's DiseaseNARROW Xref: MeSH2011_6_17:D005953
Gierkes DiseaseNARROW Xref: MeSH2011_6_17:D005953
Glucose 6 Phosphatase DeficiencyNARROW Xref: MeSH2011_6_17:D005953
Glucose-6-Phosphatase DeficienciesNARROW Xref: MeSH2011_6_17:D005953
Glucose-6-Phosphatase DeficiencyNARROW Xref: MeSH2011_6_17:D005953
Glucosephosphatase DeficienciesNARROW Xref: MeSH2011_6_17:D005953
Glucosephosphatase DeficiencyNARROW Xref: MeSH2011_6_17:D005953
Glycogen Branching Enzyme DeficiencyNARROW Xref: MeSH2011_6_17:D006011
Glycogen Debrancher DeficienciesNARROW Xref: MeSH2011_6_17:D006010
Glycogen Debrancher DeficiencyNARROW Xref: MeSH2011_6_17:D006010
Glycogen Debranching Enzyme DeficiencyNARROW Xref: MeSH2011_6_17:D006010
Glycogen Storage CardiomyopathiesNARROW Xref: MeSH2011_6_17:D052120
Glycogen Storage CardiomyopathyNARROW Xref: MeSH2011_6_17:D052120
Glycogen Storage DiseaseEXACT Xref: MeSH2011_6_17:D006008, UMLS2011AA:C0017919
Glycogen storage diseaseEXACT Xref: MTHICD9_2006:271.0, SNOMEDCT_2005_07_31:154738008, SNOMEDCT_2005_07_31:267498002
glycogen storage diseaseEXACT Xref: HumanDO2011_6_18:DOID:2747
Glycogen Storage Disease IIbNARROW Xref: MeSH2011_6_17:D052120
Glycogen Storage Disease Type 2NARROW Xref: MeSH2011_6_17:D006009
Glycogen Storage Disease Type 2BNARROW Xref: MeSH2011_6_17:D052120
Glycogen Storage Disease Type 3NARROW Xref: MeSH2011_6_17:D006010
Glycogen Storage Disease Type 4NARROW Xref: MeSH2011_6_17:D006011
Glycogen Storage Disease Type 5NARROW Xref: MeSH2011_6_17:D006012
Glycogen Storage Disease Type INARROW Xref: MeSH2011_6_17:D005953
Glycogen Storage Disease Type IINARROW Xref: MeSH2011_6_17:D006009
Glycogen Storage Disease Type II, AdultNARROW Xref: MeSH2011_6_17:D006009
Glycogen Storage Disease Type II, InfantileNARROW Xref: MeSH2011_6_17:D006009
Glycogen Storage Disease Type II, JuvenileNARROW Xref: MeSH2011_6_17:D006009
Glycogen Storage Disease Type IIbNARROW Xref: MeSH2011_6_17:D052120
Glycogen Storage Disease Type IIINARROW Xref: MeSH2011_6_17:D006010
Glycogen Storage Disease Type IVNARROW Xref: MeSH2011_6_17:D006011
Glycogen Storage Disease Type VNARROW Xref: MeSH2011_6_17:D006012
Glycogen Storage Disease Type VINARROW Xref: MeSH2011_6_17:D006013
Glycogen Storage Disease Type VIINARROW Xref: MeSH2011_6_17:D006014
Glycogen Storage Disease Type VIIINARROW Xref: MeSH2011_6_17:D006015
Glycogen Storage DiseasesEXACT Xref: MeSH2011_6_17:D006008
GlycogenosesEXACT Xref: MeSH2011_6_17:D006008
Glycogenoses, GeneralizedNARROW Xref: MeSH2011_6_17:D006009
Glycogenoses, Type IVNARROW Xref: MeSH2011_6_17:D006011
GlycogenosisEXACT Xref: MeSH2011_6_17:D006008
glycogenosisEXACT Xref: CSP2005:4000-0193
GlycogenosisEXACT Xref: ICD9CM_2006:271.0
Glycogenosis 1NARROW Xref: MeSH2011_6_17:D005953
Glycogenosis 2NARROW Xref: MeSH2011_6_17:D006009
Glycogenosis 2sNARROW Xref: MeSH2011_6_17:D006009
Glycogenosis 3NARROW Xref: MeSH2011_6_17:D006010
Glycogenosis 3sNARROW Xref: MeSH2011_6_17:D006010
Glycogenosis 4NARROW Xref: MeSH2011_6_17:D006011
Glycogenosis 4sNARROW Xref: MeSH2011_6_17:D006011
Glycogenosis 5NARROW Xref: MeSH2011_6_17:D006012
Glycogenosis 5sNARROW Xref: MeSH2011_6_17:D006012
Glycogenosis 6NARROW Xref: MeSH2011_6_17:D006013
Glycogenosis 7NARROW Xref: MeSH2011_6_17:D006014
Glycogenosis 8NARROW Xref: MeSH2011_6_17:D006015
Glycogenosis Type IINARROW Xref: MeSH2011_6_17:D006009
Glycogenosis Type IIsNARROW Xref: MeSH2011_6_17:D006009
Glycogenosis Type VINARROW Xref: MeSH2011_6_17:D006013
Glycogenosis VINARROW Xref: MeSH2011_6_17:D006013
Glycogenosis, GeneralizedNARROW Xref: MeSH2011_6_17:D006009
Glycogenosis, Type IVNARROW Xref: MeSH2011_6_17:D006011
GSDEXACT Xref: Clinical Hepatology, 2004:Page 785
GSD-INARROW Xref: Clinical Hepatology, 2004:Page 786
GSD-IIINARROW Xref: Clinical Hepatology, 2004:Page 789
GSD-IVNARROW Xref: Clinical Hepatology, 2004:Page 789
Hepatorenal Glycogen Storage DiseaseNARROW Xref: MeSH2011_6_17:D005953
Her DiseaseNARROW Xref: MeSH2011_6_17:D006013
Hers DiseaseNARROW Xref: MeSH2011_6_17:D006013
Hers' DiseaseNARROW Xref: MeSH2011_6_17:D006013
IIs, Glycogenosis TypeNARROW Xref: MeSH2011_6_17:D006009
Infantile Glycogen Storage Disease Type IINARROW Xref: MeSH2011_6_17:D006009
Juvenile Glycogen Storage Disease Type IINARROW Xref: MeSH2011_6_17:D006009
Limit DextrinosesNARROW Xref: MeSH2011_6_17:D006010
Limit DextrinosisNARROW Xref: MeSH2011_6_17:D006010
Lysosomal alpha 1,4 Glucosidase Deficiency DiseaseNARROW Xref: MeSH2011_6_17:D006009
Lysosomal alpha-1,4-Glucosidase Deficiency DiseaseNARROW Xref: MeSH2011_6_17:D006009
Maltase Deficiencies, AcidNARROW Xref: MeSH2011_6_17:D006009
Maltase Deficiency, AcidNARROW Xref: MeSH2011_6_17:D006009
McArdle DiseaseNARROW Xref: MeSH2011_6_17:D006012
McArdle Type Glycogen Storage DiseaseNARROW Xref: MeSH2011_6_17:D006012
McArdle's DiseaseNARROW Xref: MeSH2011_6_17:D006012
McArdles DiseaseNARROW Xref: MeSH2011_6_17:D006012
Muscle Glycogen Phosphorylase DeficiencyNARROW Xref: MeSH2011_6_17:D006012
Muscle Phosphofructokinase DeficienciesNARROW Xref: MeSH2011_6_17:D006014
Muscle Phosphofructokinase DeficiencyNARROW Xref: MeSH2011_6_17:D006014
Muscle Phosphorylase DeficienciesNARROW Xref: MeSH2011_6_17:D006012
Muscle Phosphorylase DeficiencyNARROW Xref: MeSH2011_6_17:D006012
Phosphofructokinase Deficiencies, MuscleNARROW Xref: MeSH2011_6_17:D006014
Phosphofructokinase Deficiency, MuscleNARROW Xref: MeSH2011_6_17:D006014
Phosphorylase Deficiencies, MuscleNARROW Xref: MeSH2011_6_17:D006012
Phosphorylase Deficiency, MuscleNARROW Xref: MeSH2011_6_17:D006012
Pompe DiseaseNARROW Xref: MeSH2011_6_17:D006009
Pompe's DiseaseNARROW Xref: MeSH2011_6_17:D006009
Pompes DiseaseNARROW Xref: MeSH2011_6_17:D006009
Storage Cardiomyopathy, GlycogenNARROW Xref: MeSH2011_6_17:D052120
Storage Disease, GlycogenEXACT Xref: MeSH2011_6_17:D006008
Storage Diseases, GlycogenEXACT Xref: MeSH2011_6_17:D006008
Tarui DiseaseNARROW Xref: MeSH2011_6_17:D006014
Tarui's DiseaseNARROW Xref: MeSH2011_6_17:D006014
Taruis DiseaseNARROW Xref: MeSH2011_6_17:D006014
Type II, GlycogenosisNARROW Xref: MeSH2011_6_17:D006009
Type IIs, GlycogenosisNARROW Xref: MeSH2011_6_17:D006009
Type IV GlycogenosesNARROW Xref: MeSH2011_6_17:D006011
Type IV GlycogenosisNARROW Xref: MeSH2011_6_17:D006011
Type VI, GlycogenosisNARROW Xref: MeSH2011_6_17:D006013
Vacuolar Cardiomyopathy and Myopathy, X-linkedNARROW Xref: MeSH2011_6_17:D052120
von Gierke diseaseNARROW Xref: Clinical Hepatology, 2004:Page 786
von Gierke DiseaseNARROW Xref: MeSH2011_6_17:D005953
von Gierke's DiseaseNARROW Xref: MeSH2011_6_17:D005953
von Gierkes DiseaseNARROW Xref: MeSH2011_6_17:D005953
X-Linked Vacuolar Cardiomyopathy and MyopathyNARROW Xref: MeSH2011_6_17:D052120
GSDEXACT Xref: Clinical Hepatology, 2004:page 785
XrefClinical Hepatology,2004.Page 785
HumanDO2011_6_18:DOID:2747
MeSH2011_6_17:D005953
MeSH2011_6_17:D006008
MeSH2011_6_17:D006009
MeSH2011_6_17:D006010
MeSH2011_6_17:D006011
MeSH2011_6_17:D006012
MeSH2011_6_17:D006013
MeSH2011_6_17:D006014
MeSH2011_6_17:D006015
MeSH2011_6_17:D052120
Genetics RelationGene/Protein/Pathway
Gene:GYS2
Gene:G6PC
Gene:GAA
Gene:AGL
Gene:GBE1
Gene:PYGM
Gene:PYGL
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