MCID: GLY013
MIFTS: 51

Glycogen Storage Disease malady

Genetic diseases, Metabolic diseases, Rare diseases, Neuronal diseases, Liver diseases, Blood diseases, Endocrine diseases, Muscle diseases, Nephrological diseases, Cardiovascular diseases categories

Summaries for Glycogen Storage Disease

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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 based summary: Glycogen Storage Disease, also known as glycogenosis, is related to mcardle disease and glycogen storage disease vi. 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:42 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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Glycogen Storage Disease, Aliases & Descriptions:

Name: Glycogen Storage Disease 30 9 20 42 11 43 60
Glycogenosis 9
 
Glycogenoses 9


Classifications:



External Ids:

Disease Ontology9 DOID:2747
ICD9CM27 271.0
NCIt38 C61272
MeSH33 D006008
ICD1025 E74.0

Related Diseases for Glycogen Storage Disease

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Diseases in the Glycogen Storage Disease family:

Glycogen Storage Disease Iv Glycogen Storage Disease Xv
Glycogen Storage Disease X Glycogen Storage Disease Ib
Glycogen Storage Disease Ic Glycogen Storage Disease Vii
Glycogen Storage Disease Vi Glycogen Storage Disease Ixc
Glycogen Storage Disease Xii Glycogen Storage Disease Xiii
Glycogen Storage Disease Ia Glycogen Storage Disease Ii
Glycogen Storage Disease Iiia Glycogen Storage Disease Viii
Glycogen Storage Disease Ix Glycogen Storage Disease Type 0

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

(show top 50)    (show all 156)
idRelated DiseaseScoreTop Affiliating Genes
1mcardle disease31.8GAA, PYGM
2glycogen storage disease vi31.7G6PC, PYGL
3glycogen storage disease ii31.7GAA, PYGM
4glycogen storage disease iiia31.7AGL, GAA, G6PC
5glycogen storage disease iv31.6GAA, G6PC, GBE1
6glycogen storage disease vii31.6GBE1, PYGM
7glycogen storage disease ia31.5G6PC, PHKA2, SLC37A4
8neutropenia31.2SLC37A4, G6PC
9hypoglycemia30.8PYGL, G6PC, SLC37A4, AGL
10familial hyperlipidemia30.3AGL, SLC37A4, G6PC
11liver cirrhosis30.1PHKG2, PHKA2, G6PC
12hyperglycemia30.1PYGM, PYGL, G6PC
13myopathy29.9GBE1, PYGM, PYGL, GAA, PHKA2, AGL
14hepatitis10.9
15glycogen storage disease type 010.9
16adenoma10.8
17danon disease10.7
18phosphorylase kinase deficiency10.7
19glycogen storage disease ib10.7
20glycogen storage disease xiii10.7
21hepatocellular adenoma10.7
22hepatocellular carcinoma10.7
23muscular phosphorylase kinase deficiency10.7
24fanconi-bickel syndrome10.7
25glycogen storage disease xii10.7
26glycogen storage disease xv10.6
27glycogen storage disease of heart, lethal congenital10.6
28glycogen storage disease 0, muscle10.6
29glycogen storage disease, type ixa110.6
30glycogen storage disease viii10.6
31glycogen storage disease due to liver phosphorylase kinase deficiency10.6
32glycogen storage disease x10.6
33galactosemia10.6
34glycogen storage disease ixc10.6
35hypertrophic cardiomyopathy10.5
36colitis10.5
37phosphoglycerate mutase deficiency10.5
38glycogen storage disease due to liver glycogen phosphorylase deficiency10.5
39glycogen storage disease due to glycogenin deficiency10.5
40glycogen storage disease due to phosphoglucomutase deficiency10.5
41glycogen storage disease ic10.5
42atherosclerosis10.5
43inflammatory bowel disease10.5
44glycogen storage disease due to muscle and heart glycogen synthase deficiency10.5
45glycogen storage disease due to lactate dehydrogenase m-subunit deficiency10.5
46glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form10.5
47glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form10.5
48glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form10.5
49glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form10.5
50glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form10.5

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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Drug clinical trials:

Search ClinicalTrials for Glycogen Storage Disease

Search NIH Clinical Center for Glycogen Storage Disease

Genetic Tests for Glycogen Storage Disease

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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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MalaCards organs/tissues related to Glycogen Storage Disease:

31
Liver, Heart, Skeletal muscle, Neutrophil, Bone, Kidney, Brain, Testes, Bone marrow, Myeloid, Endothelial, Thyroid, Skin, Ovary, Monocytes, Pituitary

LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

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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Articles related to Glycogen Storage Disease:

(show top 50)    (show all 761)
idTitleAuthorsYear
1
Glycogen Storage Disease Type I Presenting with Hypertension During Infancy. (25735438)
2015
2
Cognitive profile of patients with glycogen storage disease type III: a clinical description of seven cases. (25388549)
2014
3
Pharmacological and nutritional treatment for McArdle disease (Glycogen Storage Disease type V). (25391139)
2014
4
Detection of a novel mutation in the GAA gene in an Iranian child with glycogen storage disease type II. (23360637)
2013
5
Challenges in screening for hepatocellular carcinoma in the glycogen storage disease type 1a population. (22790156)
2012
6
Glycogen storage disease with ventricular hypertrophy mimicking obstructive hypertrophic myocardiopathy. (22932100)
2012
7
Targeted deletion of liver glucose-6 phosphatase mimics glycogen storage disease type 1a including development of multiple adenomas. (21109326)
2011
8
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
9
Late onset glycogen storage disease type II with reducing body-like inclusions. (20040332)
2010
10
Systemic progression of type IV glycogen storage disease after liver transplantation. (20531024)
2010
11
Pharmacological and nutritional treatment for McArdle disease (Glycogen Storage Disease type V). (21154353)
2010
12
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
13
Case of glycogen storage disease type VI (phosphorylase deficiency) complicated by focal nodular hyperplasia. (20723115)
2010
14
High frequency of acid alpha-glucosidase pseudodeficiency complicates newborn screening for glycogen storage disease type II in the Japanese population. (19362502)
2009
15
A detailed characterization of the adult mouse model of glycogen storage disease Ia. (19581879)
2009
16
Use of modified cornstarch therapy to extend fasting in glycogen storage disease types Ia and Ib. (18996862)
2008
17
Prenatal diagnosis of glycogen storage disease type Ia, presenting a new mutation in the glucose-6-phosphatase gene. (17607665)
2007
18
Serum lipid and lipoprotein profile of patients with glycogen storage disease types I, III and IX. (17407002)
2007
19
Increased prevalence of thyroid autoimmunity and hypothyroidism in patients with glycogen storage disease type I. (17307551)
2007
20
Glycogen storage disease type IX: High variability in clinical phenotype. (17689125)
2007
21
Benign course of glycogen storage disease type IIb in two brothers: nature or nurture? (16320310)
2006
22
Exercise capacity and biochemical profile during exercise in patients with glycogen storage disease type I. (15671110)
2005
23
Infantile-onset glycogen storage disease type II (Pompe disease): report of a case with genetic diagnosis and pathological findings. (15366815)
2004
24
Improved neutrophil function in a glycogen storage disease type 1b patient after liver transplantation. (14872340)
2004
25
Mutation frequencies for glycogen storage disease Ia in the Ashkenazi Jewish population. (15316959)
2004
26
A simple, rapid test for the differential diagnosis of glycogen storage disease type 3. (12927680)
2003
27
Calcium nephrolithiasis and distal tubular acidosis in type 1 glycogen storage disease. (12534929)
2003
28
Phenylketonuria and glycogen storage disease type III in sibs of one family. (11859869)
2002
29
Pulmonary arterial hypertension and type-I glycogen-storage disease: the serotonin hypothesis. (12166582)
2002
30
Molecular characterization of glycogen storage disease type III. (11949933)
2002
31
Severe pulmonary arterial hypertension in type 1 glycogen storage disease. (12373580)
2002
32
Low bone mass in glycogen storage disease type 1 is associated with reduced muscle force and poor metabolic control. (12219054)
2002
33
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
34
Granulocyte-macrophage colony-stimulating factor for treating gastrostomy tube site healing in a child with glycogen storage disease type Ib. (11479417)
2001
35
A molecular link between the common phenotypes of type 1 glycogen storage disease and HNF1alpha-null mice. (11121425)
2001
36
Glycogen storage disease type Ia: molecular study in Brazilian patients. (11310582)
2001
37
Early-onset lysosomal glycogen storage disease with normal acid maltase. (11596653)
2001
38
Multiple adenomas and hepatocellular carcinoma in a renal transplant patient with glycogen storage disease type 1a (von Gierke disease). (11477366)
2001
39
How many forms of glycogen storage disease type I? (10834514)
2000
40
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
41
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
42
Towards a molecular therapy for glycogen storage disease type II (Pompe disease). (10840383)
2000
43
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
44
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
45
Nosology of lysosomal glycogen storage diseases without in vitro acid maltase deficiency. Delineation of a neonatal form. (9382133)
1997
46
Sweet syndrome associated with G-CSF treatment in a child with glycogen storage disease type Ib. (8604280)
1996
47
Synthesis and in situ localization of lysosomal alpha-glucosidase in muscle of an unusual variant of glycogen storage disease type II. (8256296)
1993
48
Glucose-6-phosphatase and type 1 glycogen storage disease: some critical considerations. (8391448)
1993
49
Lysosomal glycogen storage disease with normal acid maltase. (6450334)
1981
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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Search GEO for disease gene expression data for Glycogen Storage Disease.

Pathways for genes affiliated with Glycogen Storage Disease

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Pathways related to Glycogen Storage Disease according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.7SLC37A4, G6PC
2
Show member pathways
glycolysis36
gluconeogenesis36
Glycolysis and Gluconeogenesis36
9.1SLC37A4, PGM1, G6PC
3
Show member pathways
UDP-N-acetyl-D-galactosamine biosynthesis I36
galactose degradation I (Leloir pathway)36
Cori Cycle36
8.5PYGM, PYGL, G6PC, PGM1, GAA
4
Show member pathways
8.2PYGM, PYGL, PHKA2, PHKG2
5
Show member pathways
Transcription Receptor mediated HIF regulation58
Development CNTF receptor signaling58
Class IB PI3K non-lipid kinase events36
ErbB2/ErbB3 signaling events36
Development Growth hormone signaling via PI3K AKT and MAPK cascades58
Translation Regulation activity of EIF258
Regulation of lipid metabolism Insulin signaling generic cascades58
Transcription PPAR Pathway58
Cell adhesion PLAU signaling58
Translation Regulation activity of EIF4F58
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 shuttle36
glycogen biosynthesis II (from UDP-D-Glucose)36
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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Sources:
24HMDB, 59Tocris Bioscience, 43Novoseek, 12DrugBank
See all sources

Compounds related to Glycogen Storage Disease according to GeneCards Suite gene sharing:

(show all 24)
idCompoundScoreTop Affiliating Genes
1D-Maltose2410.1AGL, GAA
2ogt 21155910.1GAA, AGL
31-deoxymannojirimycin hydrochloride5910.1GAA, AGL
4kifunensine59 43 1212.1AGL, GAA
5miglitol59 43 1212.0GAA, AGL
61-deoxynojirimycin59 43 1212.0GAA, AGL
7gluconolactone43 24 1212.0PYGL, PYGM
8Inosinic acid24 1210.9PYGL, PYGM
9Alpha-D-Glucose249.8AGL, GAA, G6PC
10starch439.8AGL, GBE1
11Beta-D-Glucose24 1210.8PYGL, PYGM
12carnitine439.8GAA, PYGM
13Pyridoxal 5'-phosphate249.7PYGL, PYGM
14amylose43 2410.7PYGM, PYGL, AGL
15Glucose 1-phosphate249.5PGM1, PYGL, PYGM
16Phosphate249.5PYGM, PYGL, G6PC
17pyruvate439.4PHKA2, G6PC, PYGM
18uric acid43 2410.4SLC37A4, G6PC
19creatinine439.3PYGM, GAA, AGL
20D-Glucose249.3AGL, GAA, PGM1, G6PC
21lactate438.9PYGM, G6PC, GAA, SLC37A4, AGL
22glucose 6-phosphate43 249.4PYGM, PYGL, G6PC, PGM1, GAA, SLC37A4
23glucose437.4PYGM, PYGL, G6PC, PGM1, GAA, PHKA2
24glycogen43 247.7AGL, GBE1, PYGM, PYGL, G6PC, GAA

GO Terms for genes affiliated with Glycogen Storage Disease

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Cellular components related to Glycogen Storage Disease according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1integral component of endoplasmic reticulum membraneGO:00301769.7SLC37A4, G6PC
2phosphorylase kinase complexGO:00059648.7PHKG2, PHKA2
3cytosolGO:00058296.8AGL, GBE1, PYGM, PYGL, PGM1, PHKA2

Biological processes related to Glycogen Storage Disease according to GeneCards Suite gene sharing:

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1glucose-6-phosphate transportGO:00157609.7SLC37A4, G6PC
2glucose transportGO:00157589.7SLC37A4, G6PC
3hexose transportGO:00086459.6SLC37A4, G6PC
4gluconeogenesisGO:00060949.4PGM1, G6PC
5glucose homeostasisGO:00425939.2PYGL, G6PC, SLC37A4
6generation of precursor metabolites and energyGO:00060918.7PHKG2, PHKA2, GBE1
7glycogen biosynthetic processGO:00059788.5GBE1, PGM1, PHKG2, AGL
8glycogen metabolic processGO:00059778.3GBE1, PYGM, PYGL, G6PC, PHKG2
9glycogen catabolic processGO:00059807.0AGL, PHKG2, PHKA2, GAA, PGM1, G6PC
10carbohydrate metabolic processGO:00059756.4AGL, SLC37A4, PHKG2, PHKA2, PGM1, G6PC
11glucose metabolic processGO:00060066.3PYGL, PYGM, GBE1, PGM1, GAA, PHKA2
12small molecule metabolic processGO:00442816.3GBE1, PYGM, PYGL, G6PC, PGM1, PHKA2

Molecular functions related to Glycogen Storage Disease according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1glycogen phosphorylase activityGO:00081849.7PYGL, PYGM
2pyridoxal phosphate bindingGO:00301709.7PYGL, PYGM
3hydrolase activity, hydrolyzing O-glycosyl compoundsGO:00045539.1PHKA2, GBE1
4phosphorylase kinase activityGO:00046898.9PHKG2, PHKA2

Products for genes affiliated with Glycogen Storage Disease

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  • Antibodies
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  • Antibodies
  • Proteins
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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
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet