MCID: GLY013
MIFTS: 49

Glycogen Storage Disease malady

Summaries for Glycogen Storage Disease

Sources:
8Disease Ontology, 44NINDS, 64Wikipedia, 33MalaCards
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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 v 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. Related mouse phenotype muscle.

NINDS:44 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:64 Glycogen storage disease (GSD, also glycogenosis and dextrinosis) is the result of defects in the... more...

Aliases & Classifications for Glycogen Storage Disease

Sources:
8Disease Ontology, 20GeneTests, 44NINDS, 10DISEASES, 45Novoseek, 61UMLS, 27ICD9CM, 57SNOMED-CT, 35MeSH, 40NCIt
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Aliases & Descriptions:

glycogen storage disease 8 20 44 10 45 61
glycogenosis 8
glycogenoses 8


External Ids:

Disease Ontology8 DOID:2747
ICD9CM27 271.0
MeSH35 D006008
NCIt40 C61272

Related Diseases for Glycogen Storage Disease

Sources:
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 153)
idRelated DiseaseScoreTop Affiliating Genes
1glycogen storage disease v31.6CPT2
2glycogen storage disease iv31.5GBE1, GAA, G6PC, CPT2
3glycogen storage disease vi31.5G6PC, PYGL
4glycogen storage disease ii31.4PRKAG2, GAA, PYGM
5glycogen storage disease iii31.4GAA, G6PC, AGL
6glycogen storage disease type 1a31.3PHKA2, SLC37A4, G6PC
7danon disease31.0GAA, PRKAG2
8hypoglycemia30.9PYGL, AGL, GYS1, GYS2, SLC37A4, CPT2
9muscle glycogenosis30.9PHKA1
10hyperuricemia30.2G6PC, PFKM
11insulin resistance30.2PYGM, G6PC, GYS1, CPT2
12mitochondrial disorders30.0PYGM, GAA
13noonan syndrome29.8PRKAG2, AGL, GAA, GBE1, CPT2
14glycogen storage disease i11.3
15adenoma10.9
16glycogen storage disease iiia10.8
17glycogen storage disease type 010.7
18glycogen storage disease vii10.7
19hepatocellular adenoma10.7
20phosphorylase kinase deficiency10.7
21glycogen storage disease type 1310.7
22glycogen storage disease xv10.7
23fanconi bickel syndrome10.7
24phosphorylase kinase deficiency of liver and muscle, autosomal recessive10.7
25glycogen storage disease type 0, muscle10.6
26lip disease10.6
27glycogen storage disease viii10.6
28glycogen storage disease type 1210.6
29glycogen storage disease, type ixa110.6
30phosphoglycerate mutase deficiency10.6
31glycogen storage disease type 1b10.5
32lethal congenital glycogen storage disease of the heart10.5
33gout10.5
34crohn's disease10.5
35hypertrophic cardiomyopathy10.5
36atherosclerosis10.5
37glycogen storage disease due to acid maltase deficiency, adult onset10.5
38pulmonary interstitial glycogenosis10.5
39nephrolithiasis10.4
40brain disease10.4
41juvenile hereditary hemochromatosis10.4
42glycogen storage disease xii10.4
43nutrition disease10.4
44glycogen storage disease due to acid maltase deficiency, juvenile onset10.4
45glycogen storage disease due to acid maltase deficiency, infantile onset10.4
46fanconi syndrome10.4
47dent's disease10.4
48glycogen storage disease type 1410.4
49glycogen storage disease iiib10.4
50glycogen storage disease ic10.4

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



Diseases related to glycogen storage disease

Clinical Features for Glycogen Storage Disease

Drugs & Therapeutics for Glycogen Storage Disease

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-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

Sources:
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

Sources:
31LifeMap Discovery™
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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

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Glycogen Storage Disease:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000536910.5GBE1, PFKM, GYS2, GYS1, PHKA1, GAA

Publications for Glycogen Storage Disease

Sources:
51PubMed
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Articles related to Glycogen Storage Disease:

(show top 50)    (show all 726)
idTitleAuthorsYear
1
Extended phenotype description and new molecular findings in late onset glycogen storage disease type II: a northern Italy population study and review of the literature. (24158270)
2014
2
Liver cirrhosis in glycogen storage disease Ib. (23357201)
2013
3
Asymmetric dimethylarginine (ADMA) and L-arginine levels in children with glycogen storage disease type I. (23412857)
2013
4
Neonatal presentation of lethal neuromuscular glycogen storage disease type IV. (23014386)
2012
5
Multiple hepatocellular adenomas in a patient with glycogen storage disease type I: various enhancement patterns in MRI with Gd-EOB-DTPA. (21416130)
2012
6
Markedly elevated serum transaminases in glycogen storage disease type III. (21464753)
2011
7
A potential role for muscle in glucose homeostasis: in vivo kinetic studies in glycogen storage disease type 1a and fructose-1,6-bisphosphatase deficiency. (20127282)
2010
8
Novel human pathological mutations. Gene symbol: GAA. Disease: glycogen storage disease 2. (21488291)
2010
9
Premature coronary artery disease in a patient with glycogen storage disease III. (20679683)
2010
10
Branching enzyme deficiency/glycogenosis storage disease type IV presenting as a severe congenital hypotonia: muscle biopsy and autopsy findings, biochemical and molecular genetic studies. (20833045)
2010
11
High frequency of acid alpha-glucosidase pseudodeficiency complicates newborn screening for glycogen storage disease type II in the Japanese population. (19362502)
2009
12
Chromosomal and genetic alterations in human hepatocellular adenomas associated with type Ia glycogen storage disease. (19762333)
2009
13
Living Donor Liver Transplantation in a Korean Child with Glycogen Storage Disease Type IV and a GBE1 Mutation. (20479904)
2009
14
The glucose-6-phosphate transporter is a phosphate-linked antiporter deficient in glycogen storage disease type Ib and Ic. (18337460)
2008
15
Glycogen storage disease types I and II: treatment updates. (17308886)
2007
16
Familial Wolff-Parkinson-White Syndrome: a disease of glycogen storage or ion channel dysfunction? (16686673)
2006
17
Three congenital metabolic diseases in the Faeroe Islands. Incidence, clinical and molecular genetic characteristics of Faeroese children with glycogen storage disease type IIIA, carnitine transporter deficiency and holocarboxylase synthetase deficiency]. (16494802)
2006
18
Long-term correction of murine glycogen storage disease type Ia by recombinant adeno-associated virus-1-mediated gene transfer. (16195703)
2006
19
Glycogen Storage Disease type Ib: a paediatric case report. (17168629)
2006
20
Exercise capacity and biochemical profile during exercise in patients with glycogen storage disease type I. (15671110)
2005
21
Inflammatory bowel disease-like colitis in a young Turkish child with glycogen storage disease type 1b and elevated platelet count. (16052862)
2005
22
Renal sonographic findings of type I glycogen storage disease in infancy and early childhood. (15906024)
2005
23
Hepatocellular carcinoma in glycogen storage disease type Ia: a case series. (15877204)
2005
24
Mutation analysis of glycogen debrancher enzyme gene in five Chinese patients with glycogen storage disease type III]. (15833157)
2005
25
Simultaneous liver-kidney transplantation for glycogen storage disease type IA (von Gierke's disease). (15251364)
2004
26
Association of sickle cell anemia and glycogen storage disease type 1a. (15711703)
2004
27
Low bone mass in glycogen storage disease type 1 is associated with reduced muscle force and poor metabolic control. (12219054)
2002
28
Historical highlights and unsolved problems in glycogen storage disease type 1. (12373565)
2002
29
What is the role of proton MR spectroscopy of the lumbar spine in patients with glycogen storage disease type Ib? (12205590)
2002
30
Glycogen storage disease types 1 and 2: recent developments, management and outcome. Proceedings of an international symposium. Fulda, Germany, November 2000. (12373564)
2002
31
A case of glycogen storage disease IA with multiple hepatic tumors managed by transcatheter arterial embolization and an acarbose diet. (11593132)
2001
32
Spontaneous regression of hepatic adenoma in a patient with glycogen storage disease type I after hemodialysis: ultrasonographic and CT findings. (11579951)
2001
33
Probing into the function of the gene product responsible for glycogen storage disease type Ib. (11522289)
2001
34
Type 1 glycogen storage disease and recurrent calcium nephrolithiasis. (11390734)
2001
35
Glycogen storage disease type Ia: molecular diagnosis of 51 Japanese patients and characterization of splicing mutations by analysis of ectopically transcribed mRNA from lymphoblastoid cells. (10748407)
2000
36
Identification of mutations in the glucose-6-phosphatase gene in Czech and Slovak patients with glycogen storage disease type Ia, including novel mutations K76N, V166A and 540del5. (10874313)
2000
37
Structure of the gene mutated in glycogen storage disease type Ib. (10023055)
1999
38
Glycogen storage disease type Ib: structural and mutational analysis of the microsomal glucose-6-phosphate transporter gene. (10482875)
1999
39
Enzymatic characterization of four new mutations in the glucose-6 phosphatase (G6PC) gene which cause glycogen storage disease type 1a. (10738525)
1999
40
Inactivation of the glucose 6-phosphate transporter causes glycogen storage disease type 1b. (10026167)
1999
41
Glycogen storage disease type II: identification of four novel missense mutations (D645N, G648S, R672W, R672Q) and two insertions/deletions in the acid alpha-glucosidase locus of patients of differing phenotype. (9535769)
1998
42
A novel mutation in a Brazilian patient with glycogen storage disease type 1a. (9700613)
1998
43
Isolation and nucleotide sequence of canine glucose-6-phosphatase mRNA: identification of mutation in puppies with glycogen storage disease type Ia. (9259982)
1997
44
A novel donor splice site mutation in the glycogen debranching enzyme gene is associated with glycogen storage disease type III. (8702417)
1996
45
Molecular prenatal diagnosis of glycogen storage disease type Ia. (8734807)
1996
46
Synthesis and in situ localization of lysosomal alpha-glucosidase in muscle of an unusual variant of glycogen storage disease type II. (8256296)
1993
47
Beneficial effects of fish-oil supplements on lipids, lipoproteins, and lipoprotein lipase in patients with glycogen storage disease type I. (8503363)
1993
48
Effect of granulocyte-colony stimulating factor in glycogen storage disease type Ib. (7509298)
1993
49
Secondary amyloidosis in glycogen storage disease type Ib. (2311631)
1990
50
Glycogen storage disease associated with Niemann-Pick disease. (2922035)
1989

Genetic Variations for Glycogen Storage Disease

Expression for genes affiliated with Glycogen Storage Disease

Sources:
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

Sources:
54Reactome, 38NCBI BioSystems Database, 30KEGG, 12EMD Millipore, 52QIAGEN
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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
10.6PYGL, PYGM, G6PC, PHKA1, PHKA2, PHKB
2
Hide members
10.5PGM1, GAA, PYGL, AGL, GYS1, GYS2
3
Galactose metabolism
Hide members
10.5GYS2, GYS1, AGL, GAA, G6PC, PYGM
4
Hide members
10.5PYGM, G6PC, GAA, PHKA1, PHKA2, PHKB
5
Hide members
10.5PGAM2, PGM1, ENO3, GBE1, PFKM, GYS2
6
Hide members
10.5GBE1, GYS2, PHKA2, GYG1, GYS1, AGL
7
Translation Insulin regulation of translation
Hide members
10.5GYS1, PHKA2, PHKA1, PRKAG2, G6PC, PYGM
8
Hide members
10.5PYGL, PYGM, PHKA1, PHKA2, PHKB, GYS1
9
Hide members
10.5PFKM, ENO3, SLC37A4, PGM1, PGAM2, G6PC
10
Hide members
10.5GBE1, PGAM2, PGM1, ENO3, CPT2, SLC37A4
11
Hide members
10.5GYS1, GBE1, GYG1, GYS2
12
Hide members
10.5GYS1, PHKA1, PHKG2, PHKB, PHKA2, GYS2
13
Signal transduction cAMP signaling
Hide members
10.5PHKA1, PHKA2, PHKG2
1410.5PHKA2, PHKA1, PHKG2, PHKB
1510.5PFKM, GYS1, GYG1, GYS2
1610.5PFKM, PGM1
1710.5GYS2, GYS1, PRKAG2
18
Hide members
10.5PFKM, ENO3, PGAM2
1910.5GYS2, PRKAG2, GYS1, PFKM, CPT2
2010.5PRKAG2, CPT2

Compounds for genes affiliated with Glycogen Storage Disease

Sources:
45Novoseek, 24HMDB, 11DrugBank, 60Tocris Bioscience
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Compounds related to Glycogen Storage Disease according to GeneCards/GeneDecks:

(show all 19)
idCompoundScoreTop Affiliating Genes
1glycogen45 2411.9CPT2, PYGL, PYGM, G6PC, GAA, PHKA2
2glucose4510.9PYGL, PYGM, G6PC, GAA, PHKA2, AGL
3glucose 6-phosphate45 2411.9PYGL, PYGM, G6PC, GAA, GYS1, PGM1
4lactate4510.8PYGM, G6PC, GAA, AGL, PFKM, SLC37A4
5amylose45 2411.8PYGL, PYGM, AGL, GYS1, GYS2
6pyruvate4510.8PYGM, G6PC, PHKA2, PFKM, CPT2
7carnitine4510.8PYGM, GAA, PFKM, CPT2
8creatinine4510.8PYGM, GAA, AGL, PFKM, ENO3, CPT2
91-N-Acetyl-Beta-D-Glucosamine1110.7PYGM, PYGL
102-Phospho-D-Glyceric Acid11 2411.7PGAM2, ENO3
11gluconolactone45 11 2413.7PYGM, PYGL
12Phosphonoserine1110.7PYGM, PYGL
13ogt 21156010.6GAA, AGL
141-deoxymannojirimycin hydrochloride6010.6GAA, AGL
15kifunensine60 45 1112.6GAA, AGL
16miglitol45 60 1112.5AGL, GAA
17fatty acid4510.5CPT2, PFKM, GAA, G6PC
181-deoxynojirimycin45 60 1112.4AGL, GAA
19Inosinic Acid11 2411.2PYGL, PYGM

GO Terms for genes affiliated with Glycogen Storage Disease

Sources:
16Gene Ontology
See all sources

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:00553610.5GYS1, PYGL, GYG1
4calmodulin bindingGO:00551610.5PHKA1, PHKA2, PHKB, PHKG2
5glycogen (starch) synthase activityGO:00437310.4GYS1, GYS2
6glycogen phosphorylase activityGO:00818410.2PYGM, PYGL

Products for genes affiliated with Glycogen Storage Disease

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Glycogen Storage Disease

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet