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

Summaries for Glycogen Storage Disease

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9Disease Ontology, 45NINDS, 66Wikipedia, 34MalaCards
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Disease Ontology:9 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:45 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:66 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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9Disease Ontology, 21GeneTests, 45NINDS, 11DISEASES, 46Novoseek, 63UMLS, 59SNOMED-CT, 28ICD9CM, 36MeSH, 41NCIt
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Classifications:



Aliases & Descriptions:

glycogen storage disease 9 21 45 11 46 63
glycogenosis 9
glycogenoses 9


External Ids:

Disease Ontology9 DOID:2747
ICD9CM28 271.0
MeSH36 D006008
NCIt41 C61272

Related Diseases for Glycogen Storage Disease

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18GeneCards, 19GeneDecks
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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

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Drugs & Therapeutics for Glycogen Storage Disease

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-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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21GeneTests
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Genetic tests related to Glycogen Storage Disease:

id Genetic test Affiliating Genes
1 Glycogen Storage Disease Multi-Gene Panels21

Anatomical Context for Glycogen Storage Disease

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32LifeMap Discoveryā„¢, 34MalaCards
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MalaCards organs/tissues related to Glycogen Storage Disease:

34
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

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Publications for Glycogen Storage Disease

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53PubMed
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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

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Expression for genes affiliated with Glycogen Storage Disease

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2BioGPS, 16Gene 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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51PathCards, 31KEGG, 61Thomson Reuters, 39NCBI BioSystems Database, 56Reactome, 54QIAGEN
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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
glycolysis39
gluconeogenesis39
Glycolysis and Gluconeogenesis39
9.1SLC37A4, PGM1, G6PC
3
Show member pathways
UDP-N-acetyl-D-galactosamine biosynthesis I39
galactose degradation I (Leloir pathway)39
Cori Cycle39
8.5PYGM, PYGL, G6PC, PGM1, GAA
4
Show member pathways
8.2PYGM, PYGL, PHKA2, PHKG2
5
Show member pathways
Transcription Receptor mediated HIF regulation61
Development CNTF receptor signaling61
Class IB PI3K non-lipid kinase events39
ErbB2/ErbB3 signaling events39
Development Growth hormone signaling via PI3K AKT and MAPK cascades61
Translation Regulation activity of EIF261
Regulation of lipid metabolism Insulin signaling generic cascades61
Transcription PPAR Pathway61
Cell adhesion PLAU signaling61
Translation Regulation activity of EIF4F61
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 shuttle39
glycogen biosynthesis II (from UDP-D-Glucose)39
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

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25HMDB, 62Tocris Bioscience, 46Novoseek, 12DrugBank
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Compounds related to Glycogen Storage Disease according to GeneCards/GeneDecks:

(show all 24)
idCompoundScoreTop Affiliating Genes
1D-Maltose2510.1AGL, GAA
2ogt 21156210.1GAA, AGL
31-deoxymannojirimycin hydrochloride6210.1GAA, AGL
4kifunensine62 46 1212.1AGL, GAA
5miglitol62 46 1212.0GAA, AGL
61-deoxynojirimycin62 46 1212.0GAA, AGL
7gluconolactone46 25 1212.0PYGL, PYGM
8Inosinic acid25 1210.9PYGL, PYGM
9Alpha-D-Glucose259.8AGL, GAA, G6PC
10starch469.8AGL, GBE1
11Beta-D-Glucose25 1210.8PYGL, PYGM
12carnitine469.8GAA, PYGM
13Pyridoxal 5'-phosphate259.7PYGL, PYGM
14amylose46 2510.7PYGM, PYGL, AGL
15Glucose 1-phosphate259.5PGM1, PYGL, PYGM
16Phosphate259.5PYGM, PYGL, G6PC
17pyruvate469.4PHKA2, G6PC, PYGM
18uric acid46 2510.4SLC37A4, G6PC
19creatinine469.3PYGM, GAA, AGL
20D-Glucose259.3AGL, GAA, PGM1, G6PC
21lactate468.9PYGM, G6PC, GAA, SLC37A4, AGL
22glucose 6-phosphate46 259.4PYGM, PYGL, G6PC, PGM1, GAA, SLC37A4
23glucose467.4PYGM, PYGL, G6PC, PGM1, GAA, PHKA2
24glycogen46 257.7AGL, GBE1, PYGM, PYGL, G6PC, GAA

GO Terms for genes affiliated with Glycogen Storage Disease

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17Gene Ontology
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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

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Sources for Glycogen Storage Disease

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet