MCID: GLY013
MIFTS: 55

Glycogen Storage Disease malady

Summaries for Glycogen Storage Disease

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8Disease Ontology, 43NINDS, 63Wikipedia, 32MalaCards
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Disease Ontology:8 A carbohydrate metabolic disease that has material basis in enzymes deficiencies necessary in the processing of glycogen synthesis or breakdown within muscles, liver, and other cell types.

MalaCards: Glycogen Storage Disease, also known as glycogenosis, is related to glycogen storage disease ii and glycogen storage disease iv. An important gene associated with Glycogen Storage Disease is G6PC (glucose-6-phosphatase, catalytic subunit), and among its related pathways are MPS IIIC - Sanfilippo syndrome C and Glucuronidation. The compounds glycogen and glucose have been mentioned in the context of this disorder. Affiliated tissues include liver, heart and skeletal muscle, and related mouse phenotype muscle.

NINDS:43 Pompe disease is a rare (estimated at 1 in every 40,000 births), inherited and often fatal disorder that disables the heart and skeletal muscles.

Wikipedia:63 Glycogen storage disease (GSD, also glycogenosis and dextrinosis) is the result of defects in the... more...

Aliases & Classifications for Glycogen Storage Disease

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8Disease Ontology, 20GeneTests, 43NINDS, 10DISEASES, 44Novoseek, 60UMLS, 27ICD9CM, 56SNOMED-CT, 34MeSH, 39NCIt
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Aliases & Descriptions:

glycogen storage disease 8 20 43 10 44 60
glycogenosis 8
glycogenoses 8


External Ids:

Disease Ontology8 DOID:2747
ICD9CM27 271.0
MeSH34 D006008
NCIt39 C61272

Related Diseases for Glycogen Storage Disease

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17GeneCards, 18GeneDecks
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Diseases in the Glycogen Storage Disease Ii family:

Glycogen Storage Disease Viii Glycogen Storage Disease Iv
Glycogen Storage Disease Vi Glycogen Storage Disease V
Glycogen Storage Disease I Glycogen Storage Disease Iii
Glycogen Storage Disease Ix Glycogen Storage Disease Xv
Glycogen Storage Disease Vii glycogen storage disease
Glycogen Storage Disease Type 12 Glycogen Storage Disease Type 13
Glycogen Storage Disease Type 1a Glycogen Storage Disease Type 1b
Glycogen Storage Disease Type 0 Glycogen Storage Disease Type 14
Glycogen Storage Disease Iiia Glycogen Storage Disease Iiib
Glycogen Storage Disease Ic Glycogen Storage Disease Ixc
Glycogen Storage Disease Xii

Diseases related to Glycogen Storage Disease via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 163)
idRelated DiseaseScoreTop Affiliating Genes
1glycogen storage disease ii31.7PRKAG2, GAA, PYGM
2glycogen storage disease iv31.6G6PC, GAA, GBE1, CPT2
3glycogen storage disease iii31.6G6PC, GAA, AGL
4glycogen storage disease v31.4CPT2
5glycogen storage disease vi31.3G6PC, PYGL
6glycogen storage disease type 1a31.2G6PC, PHKA2, SLC37A4
7danon disease30.9GAA, PRKAG2
8hypoglycemia30.9CPT2, SLC37A4, GYS2, GYS1, AGL, G6PC
9muscle glycogenosis30.9PHKA1
10myopathy30.5PYGL, PYGM, GAA, PHKA2, AGL, PFKM
11diabetes mellitus30.5PFKM, GYS1, G6PC, PYGM, PYGL
12liver cirrhosis30.5AGL, GBE1
13hyperglycemia30.1PYGL, PYGM, G6PC, GYS1
14hyperuricemia30.1PFKM, G6PC
15familial hyperlipidemia30.1SLC37A4, AGL, G6PC
16mitochondrial disorders30.0GAA, PYGM
17noonan syndrome29.8GAA, PRKAG2, AGL, GBE1, CPT2
18glycogen storage disease i11.1
19liver disease10.9
20hepatitis10.9
21glycogen storage disease type 010.8
22adenoma10.8
23lysosomal storage disease10.7
24glycogen storage disease vii10.7
25glycogen storage disease type 1310.7
26phosphorylase kinase deficiency10.7
27glycogen storage disease xv10.6
28hepatitis a10.6
29hepatocellular carcinoma10.6
30neutropenia10.6
31fanconi bickel syndrome10.6
32glycogen storage disease ix10.6
33glycogen storage disease type 1210.6
34glycogen storage disease type 0, muscle10.6
35glycogen storage disease, type ixa110.6
36glycogen storage disease due to phosphorylase kinase deficiency10.6
37glycogen storage disease viii10.6
38phosphoglycerate mutase deficiency10.6
39glycogen storage disease iiia10.6
40phosphorylase kinase deficiency of liver and muscle, autosomal recessive10.5
41chromosomal disease10.5
42kidney disease10.5
43neuromuscular disease10.5
44glycogen storage disease type 1b10.5
45lethal congenital glycogen storage disease of the heart10.5
46glycogen storage disease due to acid maltase deficiency, adult onset10.5
47hypertrophic cardiomyopathy10.5
48atherosclerosis10.5
49lipid storage disease10.5
50juvenile hereditary hemochromatosis10.5

Graphical network of the top 20 diseases related to Glycogen Storage Disease:



Diseases related to glycogen storage disease

Clinical Features for Glycogen Storage Disease

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Drugs & Therapeutics for Glycogen Storage Disease

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Glycogen Storage Disease

Drug clinical trials:

Search ClinicalTrials for Glycogen Storage Disease

Search NIH Clinical Center for Glycogen Storage Disease

Search CenterWatch for Glycogen Storage Disease

Genetic Tests for Glycogen Storage Disease

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20GeneTests
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Genetic tests related to Glycogen Storage Disease:

id Genetic test Affiliating Genes
1 Glycogen Storage Disease Multi-Gene Panels20

Anatomical Context for Glycogen Storage Disease

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30LifeMap Discovery™, 32MalaCards
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MalaCards organs/tissues related to Glycogen Storage Disease:

32
Liver, Heart, Skeletal muscle, Bone, Kidney, Testes, Brain, Myeloid, Bone marrow, Endothelial, Monocytes, Ovary, Skin, Thyroid, Pituitary

LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine

Cells/anatomical compartments in embryo or adult related to Glycogen Storage Disease:
id TissueAnatomical CompartmentCell Relevance
1 LiverLiver LobuleHepatocytes Potential therapeutic candidate, affected by disease

Animal Models for Glycogen Storage Disease or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Glycogen Storage Disease:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000536910.5GBE1, PFKM, GYS2, GYS1, PHKA1, GAA

Publications for Glycogen Storage Disease

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50PubMed
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Articles related to Glycogen Storage Disease:

(show top 50)    (show all 724)
idTitleAuthorsYear
1
Glycogen storage disease with ventricular hypertrophy mimicking obstructive hypertrophic myocardiopathy. (22932100)
2012
2
Effects of enzyme replacement therapy on five patients with advanced late-onset glycogen storage disease type II: a 2-year follow-up study. (21984055)
2012
3
Characterization of a canine model of glycogen storage disease type IIIa. (22736456)
2012
4
Targeted deletion of liver glucose-6 phosphatase mimics glycogen storage disease type 1a including development of multiple adenomas. (21109326)
2011
5
Glycogen storage disease type V (Mc Ardle's disease): a report on three cases. (22234204)
2011
6
Liver biopsy is an important procedure in the diagnosis of glycogen storage disease type IV. (21342345)
2011
7
Ischemic stroke in an adult with glycogen storage disease type I. (20699197)
2010
8
Glycogen storage disease type 1: impact of medium-chain triglycerides on metabolic control and growth. (20357432)
2010
9
Hepatic anaplerotic outflow fluxes are redirected from gluconeogenesis to lactate synthesis in patients with Type 1a glycogen storage disease. (19558966)
2009
10
Reversal of glycogen storage disease type IIIa-related cardiomyopathy with modification of diet. (19322675)
2009
11
A monocentric pilot study of an antioxidative defense and hsCRP in pediatric patients with glycogen storage disease type IA and III. (19073362)
2009
12
Emerging therapies for glycogen storage disease type I. (19541498)
2009
13
Cardiac delayed enhancement distribution in extralysosomial glycogen storage disease. (19006777)
2008
14
Glycogen storage disease type I in Tunisia: an epidemiological analysis. (18679824)
2008
15
Serum lipid and lipoprotein profile of patients with glycogen storage disease types I, III and IX. (17407002)
2007
16
A complex rearrangement in GBE1 causes both perinatal hypoglycemic collapse and late-juvenile-onset neuromuscular degeneration in glycogen storage disease type IV of Norwegian forest cats. (17257876)
2007
17
Molecular analysis of the AGL gene: heterogeneity of mutations in patients with glycogen storage disease type III from Germany, Canada, Afghanistan, Iran, and Turkey. (17047887)
2006
18
Impact of humoral immune response on distribution and efficacy of recombinant adeno-associated virus-derived acid alpha-glucosidase in a model of glycogen storage disease type II. (15703490)
2005
19
Anaesthetic management of infants with glycogen storage disease type II: a physiological approach. (15153218)
2004
20
DNA-based subtyping of glycogen storage disease type III: mutation and haplotype analysis of the AGL gene in Chinese. (15542399)
2004
21
The regulation of growth in glycogen storage disease type 1. (12608939)
2003
22
Hepatic adenomatosis in glycogen storage disease type Ia: report of a case with unusual histology. (14521443)
2003
23
3-methyglutaconic aciduria in a Chinese patient with glycogen storage disease Ib. (14707520)
2003
24
Radical trapping in glycogen storage disease 1a. (12373576)
2002
25
Plasma antioxidants in pediatric patients with glycogen storage disease, diabetes mellitus, and hypercholesterolemia. (12086688)
2002
26
Granulocyte colony-stimulating factor in glycogen storage disease type 1b. Results of the European Study on Glycogen Storage Disease Type 1. (12373578)
2002
27
Glycogen storage disease type Ia: molecular study in Brazilian patients. (11310582)
2001
28
Early-onset lysosomal glycogen storage disease with normal acid maltase. (11596653)
2001
29
Glycogen storage disease associated with left ventricular aneurysm in an elderly patient. (11348054)
2001
30
Molecular genetics of type 1 glycogen storage disease. (11386847)
2001
31
Molecular analysis in glycogen storage disease 1 non-A: DHPLC detection of the highly prevalent exon 8 mutations of the G6PT1 gene in German patients. (10923042)
2000
32
Correction of glycogen storage disease type 1a in a mouse model by gene therapy. (10625614)
2000
33
Case report: Hepatocellular carcinoma in type 1a glycogen storage disease with identification of a glucose-6-phosphatase gene mutation in one family. (10385064)
1999
34
Glycogen storage disease type IV presenting as hydrops fetalis. (10384399)
1999
35
Molecular aspects of glycogen storage disease type Ia in Turkish patients: a novel mutation in the glucose-6-phosphatase gene. (9700612)
1998
36
A gene on chromosome 11q23 coding for a putative glucose-6-phosphate translocase is mutated in glycogen-storage disease types Ib and Ic. (9758626)
1998
37
The gene for glycogen-storage disease type 1b maps to chromosome 11q23. (9463334)
1998
38
Genomic structure of the human glucose 6-phosphate translocase gene and novel mutations in the gene of a Japanese patient with glycogen storage disease type Ib. (9856496)
1998
39
Treatment of chronic enteritis in glycogen storage disease type IB with granulocyte colony-stimulating factor. (8732896)
1996
40
Recombinant human G-CSF (Lenograstim) for infectious complications in glycogen storage disease type Ib. Report of 7 cases. (7512258)
1994
41
Hepatocellular adenoma in glycogen storage disease type IV. (8285839)
1994
42
Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type 1a. (8211187)
1993
43
Glycogen Storage Disease Type V (20301518)
1993
44
Improvement of neutropenia and neutrophil dysfunction by granulocyte colony-stimulating factor in a patient with glycogen storage disease type Ib. (7680314)
1993
45
Interferon-gamma corrects the respiratory burst defect in vitro in monocyte-derived macrophages from glycogen storage disease type 1b patients. (8134165)
1993
46
Glycogen storage disease type III (glycogen debranching enzyme deficiency): correlation of biochemical defects with myopathy and cardiomyopathy. (1580445)
1992
47
Granulocyte colony-stimulating factor corrects the neutropenia associated with glycogen storage disease type Ib. (1709246)
1991
48
Echocardiographic features in the cardiac type of glycogen storage disease II. (6572589)
1983
49
Glycogen storage disease type IX: benign glycogenosis of liver and hepatic phosphorylase kinase deficiency. (4518931)
1973
50
Glycogen storage disease previously reported as familial hyperlipidemia. (5215216)
1965

Genetic Variations for Glycogen Storage Disease

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Expression for genes affiliated with Glycogen Storage Disease

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Glycogen Storage Disease

Search GEO for disease gene expression data for Glycogen Storage Disease.

Pathways for genes affiliated with Glycogen Storage Disease

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53Reactome, 37NCBI BioSystems Database, 29KEGG, 12EMD Millipore, 51QIAGEN
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Pathways related to Glycogen Storage Disease according to GeneCards/GeneDecks:

(show all 20)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
10.6ENO3, PHKB, PHKG2, AGL, GYS1, GYG1
2
Hide members
10.5PYGL, PYGM, G6PC, GAA, AGL, GYS1
3
Galactose metabolism
Hide members
10.5PYGL, PYGM, G6PC, GAA, AGL, GYS1
4
Hide members
10.5PHKA2, PHKA1, GAA, G6PC, PYGM, PYGL
5
Hide members
10.5PYGL, PYGM, PHKA1, PHKA2, PHKB, PHKG2
6
Hide members
10.5PHKB, PHKG2, AGL, GYS1, GYG1, GYS2
7
Translation Insulin regulation of translation
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10.5PYGL, PYGM, G6PC, PHKA1, PHKA2, PHKB
8
Hide members
10.5PYGL, PYGM, PHKA1, PHKA2, PHKB, PHKG2
9
Hide members
10.5G6PC, PFKM, PGAM2, PGM1, SLC37A4, ENO3
10
Hide members
10.5GBE1, PGAM2, PGM1, SLC37A4, ENO3, CPT2
11
Hide members
10.5GYS1, GYG1, GYS2, GBE1
12
Hide members
10.5PHKA1, PHKA2, PHKB, PHKG2, GYS1, GYS2
13
Signal transduction cAMP signaling
Hide members
10.5PHKG2, PHKA2, PHKA1
1410.5PHKA1, PHKA2, PHKB, PHKG2
1510.5GYS1, GYG1, GYS2, PFKM
1610.5PGM1, PFKM
1710.5GYS2, GYS1, PRKAG2
18
Hide members
10.5ENO3, PGAM2, PFKM
1910.5PRKAG2, GYS1, GYS2, PFKM, CPT2
2010.5PRKAG2, CPT2

Compounds for genes affiliated with Glycogen Storage Disease

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44Novoseek, 24HMDB, 11DrugBank, 59Tocris Bioscience
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Compounds related to Glycogen Storage Disease according to GeneCards/GeneDecks:

(show all 19)
idCompoundScoreTop Affiliating Genes
1glycogen44 2411.9CPT2, PYGL, PYGM, G6PC, GAA, PHKA2
2glucose4410.9PYGL, PYGM, G6PC, GAA, PHKA2, AGL
3glucose 6-phosphate44 2411.9PYGL, PYGM, G6PC, GAA, GYS1, PGM1
4lactate4410.8PYGM, G6PC, GAA, AGL, PFKM, SLC37A4
5amylose44 2411.8PYGL, PYGM, AGL, GYS1, GYS2
6pyruvate4410.8PYGM, G6PC, PHKA2, PFKM, CPT2
7carnitine4410.8PYGM, GAA, PFKM, CPT2
8creatinine4410.8PYGM, GAA, AGL, PFKM, ENO3, CPT2
91-N-Acetyl-Beta-D-Glucosamine1110.7PYGM, PYGL
102-Phospho-D-Glyceric Acid11 2411.7PGAM2, ENO3
11gluconolactone44 11 2413.7PYGM, PYGL
12Phosphonoserine1110.7PYGM, PYGL
13ogt 21155910.6GAA, AGL
141-deoxymannojirimycin hydrochloride5910.6GAA, AGL
15kifunensine59 44 1112.6GAA, AGL
16miglitol44 59 1112.5AGL, GAA
17fatty acid4410.5CPT2, PFKM, GAA, G6PC
181-deoxynojirimycin44 59 1112.4AGL, GAA
19Inosinic Acid11 2411.2PYGL, PYGM

GO Terms for genes affiliated with Glycogen Storage Disease

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16Gene Ontology
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Cellular components related to Glycogen Storage Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1inclusion bodyGO:01623410.5GYS1, AGL
2cytosolGO:00582910.4ENO3, PYGL, PYGM, PHKA1, PHKA2, PHKB
3phosphorylase kinase complexGO:00596410.2PHKG2, PHKA2

Biological processes related to Glycogen Storage Disease according to GeneCards/GeneDecks:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1glycogen catabolic processGO:00598010.8PHKB, PHKG2, AGL, GYG1, PGM1, PHKA2
2glucose metabolic processGO:00600610.8PYGL, PYGM, GAA, PHKA1, PHKA2, PHKB
3glycogen biosynthetic processGO:00597810.8PHKG2, AGL, GYS1, GYG1, GYS2, GBE1
4small molecule metabolic processGO:04428110.7CPT2, PYGM, G6PC, PHKA1, PHKA2, PHKB
5glycogen metabolic processGO:00597710.7PYGL, PYGM, G6PC, PHKA1, PHKB, PHKG2
6carbohydrate metabolic processGO:00597510.7ENO3, SLC37A4, PHKA2, PHKA1, G6PC, PYGM
7generation of precursor metabolites and energyGO:00609110.6PHKA1, PHKA2, PHKB, PHKG2, GYS2, GBE1
8gluconeogenesisGO:00609410.6ENO3, PGM1, PGAM2, G6PC
9glycolysisGO:00609610.6PFKM, PGAM2, PGM1, ENO3
10glucose homeostasisGO:04259310.5SLC37A4, PFKM, G6PC, PYGL
11muscle cell cellular homeostasisGO:04671610.5PFKM, GAA
12glucose-6-phosphate transportGO:01576010.4G6PC, SLC37A4
13carnitine shuttleGO:00685310.2CPT2, PRKAG2

Molecular functions related to Glycogen Storage Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1hydrolase activity, hydrolyzing O-glycosyl compoundsGO:00455310.6GBE1, PHKB, PHKA2, PHKA1
2phosphorylase kinase activityGO:00468910.6PHKG2, PHKA2, PHKA1
3glucose bindingGO:00553610.5PYGL, GYS1, GYG1
4calmodulin bindingGO:00551610.5PHKG2, PHKB, PHKA2, PHKA1
5glycogen (starch) synthase activityGO:00437310.4GYS2, GYS1
6glycogen phosphorylase activityGO:00818410.2PYGM, PYGL

Products for genes affiliated with Glycogen Storage Disease

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Sources for Glycogen Storage Disease

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet