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, skeletal muscle and heart, 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, Skeletal muscle, Heart, Bone, Kidney, Testes, Brain, Myeloid, Bone marrow, Endothelial, Ovary, Thyroid, Skin, Monocytes, 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
Impaired Bone Metabolism in Glycogen Storage Disease Type 1 Is Associated with Poor Metabolic Control in Type 1a and with Granulocyte Colony-Stimulating Factor Therapy in Type 1b. (24401800)
2013
2
Quality of Life in Adult Patients with Glycogen Storage Disease Type I: Results of a Multicenter Italian Study. (24363035)
2013
3
A mutation analysis of the AGL gene in Korean patients with glycogen storage disease type III. (24257475)
2013
4
Dietary treatment of glycogen storage disease type Ia: uncooked cornstarch and/or continuous nocturnal gastric drip-feeding? (23480859)
2013
5
Alglucosidase alfa enzyme replacement therapy as a therapeutic approach for glycogen storage disease type III. (23318145)
2013
6
Catastrophic axial gout causing paraplegia in a patient with glycogen storage disease. (21946469)
2011
7
Novel mutations in the gene encoding acid I+-1,4-glucosidase in a patient with late-onset glycogen storage disease type II (Pompe disease) with impaired intelligence. (22185990)
2011
8
Surgical treatment and perioperative management of moyamoya disease associated with glycogen storage disease Type 1a. (21194280)
2011
9
Obesity and reversed growth retardation in a child with type Ia glycogen storage disease. (20662351)
2010
10
PGD for glycogen storage disease type IV: birth of healthy twins following successful clinical application of a mutation-specific protocol. (20063322)
2010
11
Glycogen storage disease type Ia (GSD Ia) during pregnancy: report of a case complicated by fetal growth restriction and preeclampsia. (21058447)
2010
12
Low level of fasting plasma mannose in a child with glycogen storage disease type 0 (liver glycogen synthase deficiency). (20331987)
2010
13
Structure-function study of the glucose-6-phosphate transporter, an eukaryotic antiporter deficient in glycogen storage disease type Ib. (19008136)
2009
14
Vitamin E supplementation improves neutropenia and reduces the frequency of infections in patients with glycogen storage disease type 1b. (19066956)
2009
15
Molecular genetic analysis of 10 Chinese patients with glycogen storage disease type III]. (19951465)
2009
16
Clinical and pathological features of glycogen storage disease type III]. (19595259)
2009
17
Biochemical and molecular investigation of two Korean patients with glycogen storage disease type III. (18785866)
2008
18
Myasthenia gravis in a patient affected by glycogen storage disease type Ib: a further manifestation of an increased risk for autoimmune disorders? (18437526)
2008
19
Identification of eight novel mutations of the acid alpha-glucosidase gene causing the infantile or juvenile form of glycogen storage disease type II. (18458862)
2008
20
Glycogen storage disease type IIIa presenting as non-ketotic hypoglycemia: use of a newly approved commercially available mutation analysis to non-invasively confirm the diagnosis. (18717245)
2008
21
Increased de novo lipogenesis and delayed conversion of large VLDL into intermediate density lipoprotein particles contribute to hyperlipidemia in glycogen storage disease type 1a. (18520334)
2008
22
Prenatal diagnosis of glycogen storage disease type Ia, presenting a new mutation in the glucose-6-phosphatase gene. (17607665)
2007
23
Characterization of hepatic and brain metabolism in young adults with glycogen storage disease type 1: a magnetic resonance spectroscopy study. (17785500)
2007
24
Specific reduction of hepatic glucose 6-phosphate transporter-1 ameliorates diabetes while avoiding complications of glycogen storage disease. (17478431)
2007
25
Glycogen storage disease type Ib without hypoglycemia. (17174133)
2007
26
Enhanced efficacy of an AAV vector encoding chimeric, highly secreted acid alpha-glucosidase in glycogen storage disease type II. (16987711)
2006
27
Secondary diabetes mellitus: late complication of glycogen storage disease type 1b. (16042332)
2005
28
Glycogen storage disease type II diagnosed in a 74-year-old woman. (15161487)
2004
29
Apoptotic neutrophils in the circulation of patients with glycogen storage disease type 1b (GSD1b). (12576310)
2003
30
Increased levels of hemostatic proteins are independent of inflammation in glycogen storage disease type Ia. (14581798)
2003
31
Phenylketonuria and glycogen storage disease type III in sibs of one family. (11859869)
2002
32
Identification of six novel mutations in the acid alpha-glucosidase gene in three Spanish patients with infantile onset glycogen storage disease type II (Pompe disease). (11738358)
2002
33
Multiple adenomas and hepatocellular carcinoma in a renal transplant patient with glycogen storage disease type 1a (von Gierke disease). (11477366)
2001
34
Heterogeneous mutations in the glycogen-debranching enzyme gene are responsible for glycogen storage disease type IIIa in Japan. (10982190)
2000
35
Genotype-phenotype correlation in two frequent mutations and mutation update in type III glycogen storage disease. (10655153)
2000
36
Mutations in the glucose-6-phosphate transporter (G6PT) gene in patients with glycogen storage diseases type 1b and 1c. (10518030)
1999
37
Identification of three novel mutations (Q54P, W70X and T108I) in the glucose-6-phosphatase gene of patients with glycogen storage disease type Ia. (10447271)
1999
38
A new mutation of the glucose-6-phosphatase gene in a 4-year-old girl with oligosymptomatic glycogen storage disease type 1a. (9506659)
1998
39
Glycogen storage disease and von Willebrand's disease implications for dental treatment: dental management of a pediatric patient. (10483452)
1998
40
Identification of a point mutation (G727T) in the glucose-6-phosphatase gene in Japanese patients with glycogen storage disease type 1a, and carrier screening in healthy volunteers. (9137883)
1997
41
Structure-function analysis of human glucose-6-phosphatase, the enzyme deficient in glycogen storage disease type 1a. (7744838)
1995
42
Glycogen storage disease type Ia in two littermate Maltese puppies. (8578635)
1995
43
Bone mineralisation in type 1 glycogen storage disease. (7545579)
1995
44
Postnatal regression of glucose transport in a patient with glycogen storage disease type 1b. (8051933)
1994
45
Glucose-6-phosphatase and type 1 glycogen storage disease: some critical considerations. (8391448)
1993
46
Molecular pathology of hepatic glycogen storage disease]. (8385243)
1993
47
Uptake and transport of hexoses into polymorphonuclear leukocytes of patients with glycogen storage disease type 1b. (2122079)
1990
48
Study of liver metabolism in glucose-6-phosphatase deficiency (glycogen storage disease type 1A) by P-31 magnetic resonance spectroscopy. (3163798)
1988
49
Glycogen storage disease type 1b: genetic disorder involving the transport system of intracellular membrane. (2831040)
1987
50
Glycogen storage disease type 1b: microsomal glucose-6-phosphatase system in two patients with different clinical findings. (6137804)
1983

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
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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
Hide members
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