MCID: GLY013
MIFTS: 59

Glycogen Storage Disease malady

Genetic diseases, Rare diseases, Liver diseases, Neuronal diseases, Cardiovascular diseases, Blood diseases, Endocrine diseases, Muscle diseases, Nephrological diseases categories
Download this MalaCard

Summaries for Glycogen Storage Disease

About this section
Sources:
8Disease Ontology, 44NINDS, 65Wikipedia, 33MalaCards
See all sources

Fully expand this MalaCard
Disease Ontology:8 A glycogen metabolism disorder 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 type 1a 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 Carbohydrate digestion and absorption and Glycolysis and gluconeogenesis short map . The compounds D-Maltose and ogt 2115 have been mentioned in the context of this disorder. Affiliated tissues include liver, heart and skeletal 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:65 Glycogen storage disease (GSD, also glycogenosis and dextrinosis) is the result of defects in the... more...

Aliases & Classifications for Glycogen Storage Disease

About this section
Sources:
8Disease Ontology, 20GeneTests, 44NINDS, 10DISEASES, 45Novoseek, 62UMLS, 58SNOMED-CT, 27ICD9CM, 35MeSH, 40NCIt
See all sources

Classifications:



Aliases & Descriptions:

glycogen storage disease 8 20 44 10 45 62
glycogenosis 8
glycogenoses 8


External Ids:

Disease Ontology8 DOID:2747
ICD9CM27 271.0
MeSH35 D006008
NCIt40 C61272

Related Diseases for Glycogen Storage Disease

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Glycogen Storage Disease Ii family:

Glycogen Storage Disease Vi Glycogen Storage Disease Viii
Glycogen Storage Disease Iv Glycogen Storage Disease Iii
Glycogen Storage Disease I Glycogen Storage Disease V
Glycogen Storage Disease Vii Glycogen Storage Disease Ix
Glycogen Storage Disease Xv glycogen storage disease
Glycogen Storage Disease Type 0 Glycogen Storage Disease Type 12
Glycogen Storage Disease Type 13 Glycogen Storage Disease Type 14
Glycogen Storage Disease Type 1a Glycogen Storage Disease Type 1b
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 158)
idRelated DiseaseScoreTop Affiliating Genes
1glycogen storage disease type 1a31.6G6PC, PHKA2, SLC37A4
2glycogen storage disease iv31.6GAA, G6PC, GBE1
3glycogen storage disease vi31.4G6PC, PYGL
4glycogen storage disease ii31.4GAA, PYGM
5glycogen storage disease vii31.3GBE1, PYGM
6glycogen storage disease iii31.3AGL, GAA, G6PC
7neutropenia31.0SLC37A4, G6PC
8hypoglycemia30.9PYGL, G6PC, SLC37A4, AGL
9diabetes mellitus30.5G6PC, PYGL, PYGM
10liver cirrhosis30.4PHKG2, PHKA2, G6PC
11myopathy30.3GBE1, PYGM, PYGL, GAA, PHKA2, AGL
12familial hyperlipidemia30.2AGL, SLC37A4, G6PC
13hyperglycemia30.2PYGM, PYGL, G6PC
14noonan syndrome29.9GBE1, GAA, AGL
15glycogen storage disease type 1b11.0
16glycogen storage disease v10.9
17hepatitis10.9
18glycogen storage disease type 010.8
19glycogen storage disease i10.8
20adenoma10.8
21phosphorylase kinase deficiency10.7
22fanconi bickel syndrome10.7
23hepatocellular adenoma10.7
24danon disease10.7
25glycogen storage disease xv10.7
26hepatocellular carcinoma10.7
27glycogen storage disease type 0, muscle10.6
28glycogen storage disease type 1210.6
29glycogen storage disease type 1310.6
30glycogen storage disease, type ixa110.6
31muscle glycogenosis10.6
32glycogen storage disease viii10.6
33phosphoglycerate mutase deficiency10.6
34glycogen storage disease iiia10.6
35glycogen storage disease due to phosphorylase kinase deficiency10.6
36phosphorylase kinase deficiency of liver and muscle, autosomal recessive10.5
37lethal congenital glycogen storage disease of the heart10.5
38glycogen storage disease due to acid maltase deficiency, adult onset10.5
39pulmonary interstitial glycogenosis10.5
40hypertrophic cardiomyopathy10.5
41atherosclerosis10.5
42juvenile hereditary hemochromatosis10.5
43glycogen storage disease xii10.5
44glycogen storage disease due to phosphoglucomutase deficiency10.5
45glycogen storage disease due to acid maltase deficiency, juvenile onset10.5
46glycogen storage disease due to acid maltase deficiency, infantile onset10.5
47nephrolithiasis10.4
48hypertension10.4
49inflammatory bowel disease10.4
50gout10.4

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



Diseases related to glycogen storage disease

Symptoms for Glycogen Storage Disease

About this section

Drugs & Therapeutics for Glycogen Storage Disease

About this section
Sources:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
See all sources

Drug clinical trials:

Search ClinicalTrials for Glycogen Storage Disease

Search NIH Clinical Center for Glycogen Storage Disease

Genetic Tests for Glycogen Storage Disease

About this section
Sources:
20GeneTests
See all sources

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

About this section
Sources:
31LifeMap Discovery™, 33MalaCards
See all sources

MalaCards organs/tissues related to Glycogen Storage Disease:

33
Liver, Heart, Skeletal muscle, Bone, Kidney, Testes, Brain, Myeloid, Endothelial, Bone marrow, 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

About this section

Publications for Glycogen Storage Disease

About this section
Sources:
52PubMed
See all sources

Articles related to Glycogen Storage Disease:

(show top 50)    (show all 715)
idTitleAuthorsYear
1
Detection of a novel mutation in the GAA gene in an Iranian child with glycogen storage disease type II. (23360637)
2013
2
Challenges in screening for hepatocellular carcinoma in the glycogen storage disease type 1a population. (22790156)
2012
3
Glycogen storage disease with ventricular hypertrophy mimicking obstructive hypertrophic myocardiopathy. (22932100)
2012
4
Targeted deletion of liver glucose-6 phosphatase mimics glycogen storage disease type 1a including development of multiple adenomas. (21109326)
2011
5
Enzyme replacement therapy with alglucosidase alfa in 44 patients with late-onset glycogen storage disease type 2: 12-month results of an observational clinical trial. (19649685)
2010
6
Late onset glycogen storage disease type II with reducing body-like inclusions. (20040332)
2010
7
Systemic progression of type IV glycogen storage disease after liver transplantation. (20531024)
2010
8
Pharmacological and nutritional treatment for McArdle disease (Glycogen Storage Disease type V). (21154353)
2010
9
Carbohydrate-response-element-binding protein (ChREBP) and not the liver X receptor I+ (LXRI+) mediates elevated hepatic lipogenic gene expression in a mouse model of glycogen storage disease type 1. (20854262)
2010
10
Case of glycogen storage disease type VI (phosphorylase deficiency) complicated by focal nodular hyperplasia. (20723115)
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
A detailed characterization of the adult mouse model of glycogen storage disease Ia. (19581879)
2009
13
Use of modified cornstarch therapy to extend fasting in glycogen storage disease types Ia and Ib. (18996862)
2008
14
Prenatal diagnosis of glycogen storage disease type Ia, presenting a new mutation in the glucose-6-phosphatase gene. (17607665)
2007
15
Serum lipid and lipoprotein profile of patients with glycogen storage disease types I, III and IX. (17407002)
2007
16
Increased prevalence of thyroid autoimmunity and hypothyroidism in patients with glycogen storage disease type I. (17307551)
2007
17
Glycogen storage disease type IX: High variability in clinical phenotype. (17689125)
2007
18
Benign course of glycogen storage disease type IIb in two brothers: nature or nurture? (16320310)
2006
19
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
20
Exercise capacity and biochemical profile during exercise in patients with glycogen storage disease type I. (15671110)
2005
21
Infantile-onset glycogen storage disease type II (Pompe disease): report of a case with genetic diagnosis and pathological findings. (15366815)
2004
22
Improved neutrophil function in a glycogen storage disease type 1b patient after liver transplantation. (14872340)
2004
23
Mutation frequencies for glycogen storage disease Ia in the Ashkenazi Jewish population. (15316959)
2004
24
A simple, rapid test for the differential diagnosis of glycogen storage disease type 3. (12927680)
2003
25
Calcium nephrolithiasis and distal tubular acidosis in type 1 glycogen storage disease. (12534929)
2003
26
Gouty tendinitis revealing glycogen storage disease Type Ia in two adolescents. (12713862)
2003
27
Phenylketonuria and glycogen storage disease type III in sibs of one family. (11859869)
2002
28
Pulmonary arterial hypertension and type-I glycogen-storage disease: the serotonin hypothesis. (12166582)
2002
29
Molecular characterization of glycogen storage disease type III. (11949933)
2002
30
Severe pulmonary arterial hypertension in type 1 glycogen storage disease. (12373580)
2002
31
Low bone mass in glycogen storage disease type 1 is associated with reduced muscle force and poor metabolic control. (12219054)
2002
32
Granulocyte-macrophage colony-stimulating factor for treating gastrostomy tube site healing in a child with glycogen storage disease type Ib. (11479417)
2001
33
A molecular link between the common phenotypes of type 1 glycogen storage disease and HNF1alpha-null mice. (11121425)
2001
34
Glycogen storage disease type Ia: molecular study in Brazilian patients. (11310582)
2001
35
Early-onset lysosomal glycogen storage disease with normal acid maltase. (11596653)
2001
36
Multiple adenomas and hepatocellular carcinoma in a renal transplant patient with glycogen storage disease type 1a (von Gierke disease). (11477366)
2001
37
How many forms of glycogen storage disease type I? (10834514)
2000
38
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
39
Identification of a novel missense mutation (T16A) in the glucose-6- phosphatase gene in a Taiwan Chinese patient with glycogen storage disease Ia (von Gierke disease). (10738005)
2000
40
Towards a molecular therapy for glycogen storage disease type II (Pompe disease). (10840383)
2000
41
Glycogen storage disease type IIIa: first report of a causative missense mutation (G1448R) of the glycogen debranching enzyme gene found in a homozygous patient. (10571954)
1999
42
Mutations in the glucose-6-phosphate transporter (G6PT) gene in patients with glycogen storage diseases type 1b and 1c. (10518030)
1999
43
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
44
Glycogen storage disease type IV: a case report. (9610625)
1998
45
Nosology of lysosomal glycogen storage diseases without in vitro acid maltase deficiency. Delineation of a neonatal form. (9382133)
1997
46
Isolation and nucleotide sequence of canine glucose-6-phosphatase mRNA: identification of mutation in puppies with glycogen storage disease type Ia. (9259982)
1997
47
Sweet syndrome associated with G-CSF treatment in a child with glycogen storage disease type Ib. (8604280)
1996
48
Synthesis and in situ localization of lysosomal alpha-glucosidase in muscle of an unusual variant of glycogen storage disease type II. (8256296)
1993
49
Glucose-6-phosphatase and type 1 glycogen storage disease: some critical considerations. (8391448)
1993
50
Fructose metabolism. IV. Enzyme deficiencies: essential fructosuria, fructose intolerance, and glycogen-storage disease. (4875257)
1968

Variations for Glycogen Storage Disease

About this section

Expression for genes affiliated with Glycogen Storage Disease

About this section
Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

About this section
Sources:
50PathCards, 30KEGG, 60Thomson Reuters, 38NCBI BioSystems Database, 55Reactome, 53QIAGEN
See all sources

Pathways related to Glycogen Storage Disease according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.7SLC37A4, G6PC
2
Show member pathways
glycolysis38
gluconeogenesis38
Glycolysis and Gluconeogenesis38
9.1SLC37A4, PGM1, G6PC
3
Show member pathways
UDP-N-acetyl-D-galactosamine biosynthesis I38
galactose degradation I (Leloir pathway)38
Cori Cycle38
8.5PYGM, PYGL, G6PC, PGM1, GAA
4
Show member pathways
8.2PYGM, PYGL, PHKA2, PHKG2
5
Show member pathways
Transcription Receptor mediated HIF regulation60
Development CNTF receptor signaling60
Class IB PI3K non-lipid kinase events38
ErbB2/ErbB3 signaling events38
Development Growth hormone signaling via PI3K AKT and MAPK cascades60
Translation Regulation activity of EIF260
Regulation of lipid metabolism Insulin signaling generic cascades60
Transcription PPAR Pathway60
Cell adhesion PLAU signaling60
Translation Regulation activity of EIF4F60
7.9PYGM, PYGL, G6PC, PHKA2, PHKG2
6
Show member pathways
7.7GBE1, PYGM, PYGL, G6PC, PGM1, GAA
76.9GBE1, AGL, PHKG2, PHKA2, PGM1, PYGL
8
Show member pathways
malate-aspartate shuttle38
glycogen biosynthesis II (from UDP-D-Glucose)38
6.9AGL, PHKG2, PHKA2, PGM1, PYGL, PYGM
9
Show member pathways
6.1AGL, SLC37A4, PHKG2, PHKA2, PGM1, G6PC
10
Show member pathways
5.8GBE1, PYGM, PYGL, G6PC, PGM1, GAA

Compounds for genes affiliated with Glycogen Storage Disease

About this section
Sources:
24HMDB, 61Tocris Bioscience, 45Novoseek, 11DrugBank
See all sources

Compounds related to Glycogen Storage Disease according to GeneCards/GeneDecks:

(show all 24)
idCompoundScoreTop Affiliating Genes
1D-Maltose2410.1AGL, GAA
2ogt 21156110.1GAA, AGL
31-deoxymannojirimycin hydrochloride6110.1GAA, AGL
4kifunensine61 45 1112.1AGL, GAA
5miglitol61 45 1112.0GAA, AGL
61-deoxynojirimycin61 45 1112.0GAA, AGL
7gluconolactone45 24 1112.0PYGL, PYGM
8Inosinic acid24 1110.9PYGL, PYGM
9Alpha-D-Glucose249.8AGL, GAA, G6PC
10starch459.8AGL, GBE1
11Beta-D-Glucose24 1110.8PYGL, PYGM
12carnitine459.8GAA, PYGM
13Pyridoxal 5'-phosphate249.7PYGL, PYGM
14amylose45 2410.7PYGM, PYGL, AGL
15Glucose 1-phosphate249.5PGM1, PYGL, PYGM
16Phosphate249.5PYGM, PYGL, G6PC
17pyruvate459.4PHKA2, G6PC, PYGM
18uric acid45 2410.4SLC37A4, G6PC
19creatinine459.3PYGM, GAA, AGL
20D-Glucose249.3AGL, GAA, PGM1, G6PC
21lactate458.9PYGM, G6PC, GAA, SLC37A4, AGL
22glucose 6-phosphate45 249.4PYGM, PYGL, G6PC, PGM1, GAA, SLC37A4
23glucose457.4PYGM, PYGL, G6PC, PGM1, GAA, PHKA2
24glycogen45 247.7AGL, GBE1, PYGM, PYGL, G6PC, GAA

GO Terms for genes affiliated with Glycogen Storage Disease

About this section
Sources:
16Gene Ontology
See all sources

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

idNameGO IDScoreTop Affiliating Genes
1integral component of endoplasmic reticulum membraneGO:0301769.7SLC37A4, G6PC
2phosphorylase kinase complexGO:0059648.7PHKG2, PHKA2
3cytosolGO:0058296.8AGL, GBE1, PYGM, PYGL, PGM1, PHKA2

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

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1glucose-6-phosphate transportGO:0157609.7SLC37A4, G6PC
2glucose transportGO:0157589.7SLC37A4, G6PC
3hexose transportGO:0086459.6SLC37A4, G6PC
4gluconeogenesisGO:0060949.4PGM1, G6PC
5glucose homeostasisGO:0425939.2PYGL, G6PC, SLC37A4
6generation of precursor metabolites and energyGO:0060918.7PHKG2, PHKA2, GBE1
7glycogen biosynthetic processGO:0059788.5GBE1, PGM1, PHKG2, AGL
8glycogen metabolic processGO:0059778.3GBE1, PYGM, PYGL, G6PC, PHKG2
9glycogen catabolic processGO:0059807.0AGL, PHKG2, PHKA2, GAA, PGM1, G6PC
10carbohydrate metabolic processGO:0059756.4AGL, SLC37A4, PHKG2, PHKA2, PGM1, G6PC
11glucose metabolic processGO:0060066.3PYGL, PYGM, GBE1, PGM1, GAA, PHKA2
12small molecule metabolic processGO:0442816.3GBE1, PYGM, PYGL, G6PC, PGM1, PHKA2

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

idNameGO IDScoreTop Affiliating Genes
1glycogen phosphorylase activityGO:0081849.7PYGL, PYGM
2pyridoxal phosphate bindingGO:0301709.7PYGL, PYGM
3hydrolase activity, hydrolyzing O-glycosyl compoundsGO:0045539.1PHKA2, GBE1
4phosphorylase kinase activityGO:0046898.9PHKG2, PHKA2

Products for genes affiliated with Glycogen Storage Disease

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Glycogen Storage Disease

About this section
4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet