LiverAtlas Disease ID | HuLDi00177 |
Name | Glycogen storage disease |
Description | | Xref: |
Definition | 1.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 |
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Synonym | 3, Glycogenosis | NARROW | Xref: MeSH2011_6_17:D006010 |
Acid Maltase Deficiencies | NARROW | Xref: MeSH2011_6_17:D006009 |
Acid Maltase Deficiency | NARROW | Xref: MeSH2011_6_17:D006009 |
Acid Maltase Deficiency Disease | NARROW | Xref: MeSH2011_6_17:D006009 |
Adult Glycogen Storage Disease Type II | NARROW | Xref: MeSH2011_6_17:D006009 |
Alpha 1,4 Glucosidase Deficiency | NARROW | Xref: MeSH2011_6_17:D006009 |
Alpha-1,4-Glucosidase Deficiencies | NARROW | Xref: MeSH2011_6_17:D006009 |
Alpha-1,4-Glucosidase Deficiency | NARROW | Xref: MeSH2011_6_17:D006009 |
Amylopectinoses | NARROW | Xref: MeSH2011_6_17:D006011 |
Amylopectinosis | NARROW | Xref: MeSH2011_6_17:D006011 |
Andersen Disease | NARROW | Xref: Clinical Hepatology, 2004:Page 789 |
Andersen Disease | NARROW | Xref: MeSH2011_6_17:D006011 |
Andersen's Disease | NARROW | Xref: MeSH2011_6_17:D006011 |
Andersens Disease | NARROW | Xref: MeSH2011_6_17:D006011 |
Brancher Deficiencies | NARROW | Xref: MeSH2011_6_17:D006011 |
Brancher Deficiency | NARROW | Xref: MeSH2011_6_17:D006011 |
Cardiomyopathies, Glycogen Storage | NARROW | Xref: MeSH2011_6_17:D052120 |
Cardiomyopathy, Glycogen Storage | NARROW | Xref: MeSH2011_6_17:D052120 |
Cori disease | NARROW | Xref: Clinical Hepatology, 2004:Page 789 |
Cori Disease | NARROW | Xref: MeSH2011_6_17:D006010 |
Cori's Disease | NARROW | Xref: MeSH2011_6_17:D006010 |
Coris Disease | NARROW | Xref: MeSH2011_6_17:D006010 |
Danon Disease | NARROW | Xref: MeSH2011_6_17:D052120 |
Debrancher Deficiencies | NARROW | Xref: MeSH2011_6_17:D006010 |
Debrancher Deficiencies, Glycogen | NARROW | Xref: MeSH2011_6_17:D006010 |
Debrancher Deficiency | NARROW | Xref: MeSH2011_6_17:D006010 |
Debrancher Deficiency, Glycogen | NARROW | Xref: MeSH2011_6_17:D006010 |
Deficiencies, Acid Maltase | NARROW | Xref: MeSH2011_6_17:D006009 |
Deficiencies, Alpha-1,4-Glucosidase | NARROW | Xref: MeSH2011_6_17:D006009 |
Deficiencies, Brancher | NARROW | Xref: MeSH2011_6_17:D006011 |
Deficiencies, Debrancher | NARROW | Xref: MeSH2011_6_17:D006010 |
Deficiencies, Glucose-6-Phosphatase | NARROW | Xref: MeSH2011_6_17:D005953 |
Deficiencies, Glucosephosphatase | NARROW | Xref: MeSH2011_6_17:D005953 |
Deficiencies, Glycogen Debrancher | NARROW | Xref: MeSH2011_6_17:D006010 |
Deficiencies, Muscle Phosphofructokinase | NARROW | Xref: MeSH2011_6_17:D006014 |
Deficiencies, Muscle Phosphorylase | NARROW | Xref: MeSH2011_6_17:D006012 |
Deficiency Disease, Acid Maltase | NARROW | Xref: MeSH2011_6_17:D006009 |
Deficiency Disease, Lysosomal alpha-1,4-Glucosidase | NARROW | Xref: MeSH2011_6_17:D006009 |
Deficiency, Acid Maltase | NARROW | Xref: MeSH2011_6_17:D006009 |
Deficiency, Alpha-1,4-Glucosidase | NARROW | Xref: MeSH2011_6_17:D006009 |
Deficiency, Brancher | NARROW | Xref: MeSH2011_6_17:D006011 |
Deficiency, Debrancher | NARROW | Xref: MeSH2011_6_17:D006010 |
Deficiency, Glucose-6-Phosphatase | NARROW | Xref: MeSH2011_6_17:D005953 |
Deficiency, Glucosephosphatase | NARROW | Xref: MeSH2011_6_17:D005953 |
Deficiency, Glycogen Debrancher | NARROW | Xref: MeSH2011_6_17:D006010 |
Deficiency, Muscle Phosphofructokinase | NARROW | Xref: MeSH2011_6_17:D006014 |
Deficiency, Muscle Phosphorylase | NARROW | Xref: MeSH2011_6_17:D006012 |
Dextrinoses, Limit | NARROW | Xref: MeSH2011_6_17:D006010 |
Dextrinosis, Limit | NARROW | Xref: MeSH2011_6_17:D006010 |
Disease, Andersen | NARROW | Xref: MeSH2011_6_17:D006011 |
Disease, Andersen's | NARROW | Xref: MeSH2011_6_17:D006011 |
Disease, Cori | NARROW | Xref: MeSH2011_6_17:D006010 |
Disease, Cori's | NARROW | Xref: MeSH2011_6_17:D006010 |
Disease, Forbes | NARROW | Xref: MeSH2011_6_17:D006010 |
Disease, Gierke | NARROW | Xref: MeSH2011_6_17:D005953 |
Disease, Gierke's | NARROW | Xref: MeSH2011_6_17:D005953 |
Disease, Glycogen Storage | EXACT | Xref: MeSH2011_6_17:D006008 |
Disease, Hers | NARROW | Xref: MeSH2011_6_17:D006013 |
Disease, Hers' | NARROW | Xref: MeSH2011_6_17:D006013 |
Disease, McArdle | NARROW | Xref: MeSH2011_6_17:D006012 |
Disease, McArdle's | NARROW | Xref: MeSH2011_6_17:D006012 |
Disease, Pompe | NARROW | Xref: MeSH2011_6_17:D006009 |
Disease, Pompe's | NARROW | Xref: MeSH2011_6_17:D006009 |
Disease, Tarui | NARROW | Xref: MeSH2011_6_17:D006014 |
Disease, Tarui's | NARROW | Xref: MeSH2011_6_17:D006014 |
Disease, von Gierke | NARROW | Xref: MeSH2011_6_17:D005953 |
Disease, von Gierke's | NARROW | Xref: MeSH2011_6_17:D005953 |
Diseases, Glycogen Storage | EXACT | Xref: MeSH2011_6_17:D006008 |
Forbes Disease | NARROW | Xref: MeSH2011_6_17:D006010 |
Generalized Glycogenoses | NARROW | Xref: MeSH2011_6_17:D006009 |
Generalized Glycogenosis | NARROW | Xref: MeSH2011_6_17:D006009 |
Gierke Disease | NARROW | Xref: MeSH2011_6_17:D005953 |
Gierke's Disease | NARROW | Xref: MeSH2011_6_17:D005953 |
Gierkes Disease | NARROW | Xref: MeSH2011_6_17:D005953 |
Glucose 6 Phosphatase Deficiency | NARROW | Xref: MeSH2011_6_17:D005953 |
Glucose-6-Phosphatase Deficiencies | NARROW | Xref: MeSH2011_6_17:D005953 |
Glucose-6-Phosphatase Deficiency | NARROW | Xref: MeSH2011_6_17:D005953 |
Glucosephosphatase Deficiencies | NARROW | Xref: MeSH2011_6_17:D005953 |
Glucosephosphatase Deficiency | NARROW | Xref: MeSH2011_6_17:D005953 |
Glycogen Branching Enzyme Deficiency | NARROW | Xref: MeSH2011_6_17:D006011 |
Glycogen Debrancher Deficiencies | NARROW | Xref: MeSH2011_6_17:D006010 |
Glycogen Debrancher Deficiency | NARROW | Xref: MeSH2011_6_17:D006010 |
Glycogen Debranching Enzyme Deficiency | NARROW | Xref: MeSH2011_6_17:D006010 |
Glycogen Storage Cardiomyopathies | NARROW | Xref: MeSH2011_6_17:D052120 |
Glycogen Storage Cardiomyopathy | NARROW | Xref: MeSH2011_6_17:D052120 |
Glycogen Storage Disease | EXACT | Xref: MeSH2011_6_17:D006008, UMLS2011AA:C0017919 |
Glycogen storage disease | EXACT | Xref: MTHICD9_2006:271.0, SNOMEDCT_2005_07_31:154738008, SNOMEDCT_2005_07_31:267498002 |
glycogen storage disease | EXACT | Xref: HumanDO2011_6_18:DOID:2747 |
Glycogen Storage Disease IIb | NARROW | Xref: MeSH2011_6_17:D052120 |
Glycogen Storage Disease Type 2 | NARROW | Xref: MeSH2011_6_17:D006009 |
Glycogen Storage Disease Type 2B | NARROW | Xref: MeSH2011_6_17:D052120 |
Glycogen Storage Disease Type 3 | NARROW | Xref: MeSH2011_6_17:D006010 |
Glycogen Storage Disease Type 4 | NARROW | Xref: MeSH2011_6_17:D006011 |
Glycogen Storage Disease Type 5 | NARROW | Xref: MeSH2011_6_17:D006012 |
Glycogen Storage Disease Type I | NARROW | Xref: MeSH2011_6_17:D005953 |
Glycogen Storage Disease Type II | NARROW | Xref: MeSH2011_6_17:D006009 |
Glycogen Storage Disease Type II, Adult | NARROW | Xref: MeSH2011_6_17:D006009 |
Glycogen Storage Disease Type II, Infantile | NARROW | Xref: MeSH2011_6_17:D006009 |
Glycogen Storage Disease Type II, Juvenile | NARROW | Xref: MeSH2011_6_17:D006009 |
Glycogen Storage Disease Type IIb | NARROW | Xref: MeSH2011_6_17:D052120 |
Glycogen Storage Disease Type III | NARROW | Xref: MeSH2011_6_17:D006010 |
Glycogen Storage Disease Type IV | NARROW | Xref: MeSH2011_6_17:D006011 |
Glycogen Storage Disease Type V | NARROW | Xref: MeSH2011_6_17:D006012 |
Glycogen Storage Disease Type VI | NARROW | Xref: MeSH2011_6_17:D006013 |
Glycogen Storage Disease Type VII | NARROW | Xref: MeSH2011_6_17:D006014 |
Glycogen Storage Disease Type VIII | NARROW | Xref: MeSH2011_6_17:D006015 |
Glycogen Storage Diseases | EXACT | Xref: MeSH2011_6_17:D006008 |
Glycogenoses | EXACT | Xref: MeSH2011_6_17:D006008 |
Glycogenoses, Generalized | NARROW | Xref: MeSH2011_6_17:D006009 |
Glycogenoses, Type IV | NARROW | Xref: MeSH2011_6_17:D006011 |
Glycogenosis | EXACT | Xref: MeSH2011_6_17:D006008 |
glycogenosis | EXACT | Xref: CSP2005:4000-0193 |
Glycogenosis | EXACT | Xref: ICD9CM_2006:271.0 |
Glycogenosis 1 | NARROW | Xref: MeSH2011_6_17:D005953 |
Glycogenosis 2 | NARROW | Xref: MeSH2011_6_17:D006009 |
Glycogenosis 2s | NARROW | Xref: MeSH2011_6_17:D006009 |
Glycogenosis 3 | NARROW | Xref: MeSH2011_6_17:D006010 |
Glycogenosis 3s | NARROW | Xref: MeSH2011_6_17:D006010 |
Glycogenosis 4 | NARROW | Xref: MeSH2011_6_17:D006011 |
Glycogenosis 4s | NARROW | Xref: MeSH2011_6_17:D006011 |
Glycogenosis 5 | NARROW | Xref: MeSH2011_6_17:D006012 |
Glycogenosis 5s | NARROW | Xref: MeSH2011_6_17:D006012 |
Glycogenosis 6 | NARROW | Xref: MeSH2011_6_17:D006013 |
Glycogenosis 7 | NARROW | Xref: MeSH2011_6_17:D006014 |
Glycogenosis 8 | NARROW | Xref: MeSH2011_6_17:D006015 |
Glycogenosis Type II | NARROW | Xref: MeSH2011_6_17:D006009 |
Glycogenosis Type IIs | NARROW | Xref: MeSH2011_6_17:D006009 |
Glycogenosis Type VI | NARROW | Xref: MeSH2011_6_17:D006013 |
Glycogenosis VI | NARROW | Xref: MeSH2011_6_17:D006013 |
Glycogenosis, Generalized | NARROW | Xref: MeSH2011_6_17:D006009 |
Glycogenosis, Type IV | NARROW | Xref: MeSH2011_6_17:D006011 |
GSD | EXACT | Xref: Clinical Hepatology, 2004:Page 785 |
GSD-I | NARROW | Xref: Clinical Hepatology, 2004:Page 786 |
GSD-III | NARROW | Xref: Clinical Hepatology, 2004:Page 789 |
GSD-IV | NARROW | Xref: Clinical Hepatology, 2004:Page 789 |
Hepatorenal Glycogen Storage Disease | NARROW | Xref: MeSH2011_6_17:D005953 |
Her Disease | NARROW | Xref: MeSH2011_6_17:D006013 |
Hers Disease | NARROW | Xref: MeSH2011_6_17:D006013 |
Hers' Disease | NARROW | Xref: MeSH2011_6_17:D006013 |
IIs, Glycogenosis Type | NARROW | Xref: MeSH2011_6_17:D006009 |
Infantile Glycogen Storage Disease Type II | NARROW | Xref: MeSH2011_6_17:D006009 |
Juvenile Glycogen Storage Disease Type II | NARROW | Xref: MeSH2011_6_17:D006009 |
Limit Dextrinoses | NARROW | Xref: MeSH2011_6_17:D006010 |
Limit Dextrinosis | NARROW | Xref: MeSH2011_6_17:D006010 |
Lysosomal alpha 1,4 Glucosidase Deficiency Disease | NARROW | Xref: MeSH2011_6_17:D006009 |
Lysosomal alpha-1,4-Glucosidase Deficiency Disease | NARROW | Xref: MeSH2011_6_17:D006009 |
Maltase Deficiencies, Acid | NARROW | Xref: MeSH2011_6_17:D006009 |
Maltase Deficiency, Acid | NARROW | Xref: MeSH2011_6_17:D006009 |
McArdle Disease | NARROW | Xref: MeSH2011_6_17:D006012 |
McArdle Type Glycogen Storage Disease | NARROW | Xref: MeSH2011_6_17:D006012 |
McArdle's Disease | NARROW | Xref: MeSH2011_6_17:D006012 |
McArdles Disease | NARROW | Xref: MeSH2011_6_17:D006012 |
Muscle Glycogen Phosphorylase Deficiency | NARROW | Xref: MeSH2011_6_17:D006012 |
Muscle Phosphofructokinase Deficiencies | NARROW | Xref: MeSH2011_6_17:D006014 |
Muscle Phosphofructokinase Deficiency | NARROW | Xref: MeSH2011_6_17:D006014 |
Muscle Phosphorylase Deficiencies | NARROW | Xref: MeSH2011_6_17:D006012 |
Muscle Phosphorylase Deficiency | NARROW | Xref: MeSH2011_6_17:D006012 |
Phosphofructokinase Deficiencies, Muscle | NARROW | Xref: MeSH2011_6_17:D006014 |
Phosphofructokinase Deficiency, Muscle | NARROW | Xref: MeSH2011_6_17:D006014 |
Phosphorylase Deficiencies, Muscle | NARROW | Xref: MeSH2011_6_17:D006012 |
Phosphorylase Deficiency, Muscle | NARROW | Xref: MeSH2011_6_17:D006012 |
Pompe Disease | NARROW | Xref: MeSH2011_6_17:D006009 |
Pompe's Disease | NARROW | Xref: MeSH2011_6_17:D006009 |
Pompes Disease | NARROW | Xref: MeSH2011_6_17:D006009 |
Storage Cardiomyopathy, Glycogen | NARROW | Xref: MeSH2011_6_17:D052120 |
Storage Disease, Glycogen | EXACT | Xref: MeSH2011_6_17:D006008 |
Storage Diseases, Glycogen | EXACT | Xref: MeSH2011_6_17:D006008 |
Tarui Disease | NARROW | Xref: MeSH2011_6_17:D006014 |
Tarui's Disease | NARROW | Xref: MeSH2011_6_17:D006014 |
Taruis Disease | NARROW | Xref: MeSH2011_6_17:D006014 |
Type II, Glycogenosis | NARROW | Xref: MeSH2011_6_17:D006009 |
Type IIs, Glycogenosis | NARROW | Xref: MeSH2011_6_17:D006009 |
Type IV Glycogenoses | NARROW | Xref: MeSH2011_6_17:D006011 |
Type IV Glycogenosis | NARROW | Xref: MeSH2011_6_17:D006011 |
Type VI, Glycogenosis | NARROW | Xref: MeSH2011_6_17:D006013 |
Vacuolar Cardiomyopathy and Myopathy, X-linked | NARROW | Xref: MeSH2011_6_17:D052120 |
von Gierke disease | NARROW | Xref: Clinical Hepatology, 2004:Page 786 |
von Gierke Disease | NARROW | Xref: MeSH2011_6_17:D005953 |
von Gierke's Disease | NARROW | Xref: MeSH2011_6_17:D005953 |
von Gierkes Disease | NARROW | Xref: MeSH2011_6_17:D005953 |
X-Linked Vacuolar Cardiomyopathy and Myopathy | NARROW | Xref: MeSH2011_6_17:D052120 |
GSD | EXACT | Xref: Clinical Hepatology, 2004:page 785 |
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Xref | Clinical 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 |
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Genetics Relation | Gene/Protein/Pathway |
Gene:GYS2 |
Gene:G6PC | Gene:GAA | Gene:AGL | Gene:GBE1 | Gene:PYGM | Gene:PYGL | more... |