MCID: GLY002
MIFTS: 42

Glycogen Storage Disease I malady

Liver category

Summaries for Glycogen Storage Disease I

Sources:
8Disease Ontology, 47OMIM, 19GeneReviews, 33MalaCards
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Disease Ontology:8 A glycogen storage disease that has material basis in deficiency of the glucose-6-phosphatase enzyme which impairs the ability of the liver to produce free glucose from glycogen and from gluconeogenesis and is characterized by accumulation of glycogen and fat in the liver and kidneys, resulting in hepatomegaly and renomegaly.

MalaCards: Glycogen Storage Disease I, also known as glycogen storage disease type i, is related to adenoma and hypoglycemia. An important gene associated with Glycogen Storage Disease I is SLC37A4 (solute carrier family 37 (glucose-6-phosphate transporter), member 4), and among its related pathways are MPS IIIC - Sanfilippo syndrome C and Regulation of Glucokinase by Glucokinase Regulatory Protein. The compounds mannose 6-phosphate and uric acid have been mentioned in the context of this disorder. Affiliated tissues include liver, kidney and bone marrow, and related mouse phenotype skeleton.

Description from OMIM:47 232200,232240,232220

GeneReviews summary for gsd1

Aliases & Classifications for Glycogen Storage Disease I

Sources:
8Disease Ontology, 19GeneReviews, 20GeneTests, 22GTR, 21Genetics Home Reference, 45Novoseek, 61UMLS, 57SNOMED-CT, 40NCIt, 35MeSH, 47OMIM
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Liver


Aliases & Descriptions:

glycogen storage disease i 8
glycogen storage disease type i 8 19 20 22 21 45 61
glucose-6-phosphate transport defect 21 61
von gierke's disease 8 21
von gierke disease 8 21
hepatorenal form of glycogen storage disease 21
deficiency of glucose-6-phosphatase 8
glycogen storage disease, type i 8
glucose-6-phosphate deficiency 21
hepatorenal glycogenosis 21
glycogenosis type i 8
gsd type i 21
gsd i 21


External Ids:

Disease Ontology8 DOID:2749
NCIt40 C84733
MeSH35 D005953

Related Diseases for Glycogen Storage Disease I

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 I via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 30)
idRelated DiseaseScoreTop Affiliating Genes
1adenoma30.9G6PC
2hypoglycemia30.4G6PC, SLC37A4
3glycogen storage disease type 1a30.2SLC37A4, G6PC
4glycogen storage disease v10.6
5hepatocellular adenoma10.5
6lip disease10.4
7stroke, ischemic10.3
8glycogen storage disease vi10.3
9fanconi syndrome10.3
10hypercalcemia10.3
11brain disease10.3
12vascular disease10.3
13glycogen storage disease type 1b10.3
14gout10.3
15arthritis10.3
16xanthomatosis10.3
17hepatorenal syndrome10.2
18phosphorylase kinase deficiency10.2
19juvenile hereditary hemochromatosis10.2
20gilbert syndrome10.0
21choledocholithiasis10.0
22hyperuricemia10.0G6PC
23sudden infant death syndrome10.0G6PC
24hyperglycemia10.0G6PC
25glycogen storage disease10.0SLC37A4, G6PC
26glioblastoma multiforme10.0G6PC, BMP6
27familial hyperlipidemia10.0SLC37A4, G6PC
28metabolic syndrome x10.0SLC37A4, G6PC
29neutropenia10.0SLC37A4, G6PC
30primary hyperoxaluria10.0G6PC, BMP6

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



Diseases related to glycogen storage disease i

Clinical Features for Glycogen Storage Disease I

Sources:
47OMIM
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Clinical features from OMIM:

232200,232240,232220

Drugs & Therapeutics for Glycogen Storage Disease I

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

Approved drugs:

Search CenterWatch for Glycogen Storage Disease I

Drug clinical trials:

Search ClinicalTrials for Glycogen Storage Disease I

Search NIH Clinical Center for Glycogen Storage Disease I

Search CenterWatch for Glycogen Storage Disease I

Genetic Tests for Glycogen Storage Disease I

Sources:
20GeneTests, 22GTR
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Genetic tests related to Glycogen Storage Disease I:

id Genetic test Affiliating Genes
1 Glycogen Storage Disease Type I20 SLC37A4
2 Glycogen Storage Disease, Type I22

Anatomical Context for Glycogen Storage Disease I

Sources:
33MalaCards
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MalaCards organs/tissues related to Glycogen Storage Disease I:

33
Liver, Kidney, Bone marrow, Heart, Small intestine, Thyroid, Monocytes, B cells, Endothelial

Animal Models for Glycogen Storage Disease I or affiliated genes

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

MGI Mouse Phenotypes related to Glycogen Storage Disease I:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053908.5SLC37A4, G6PC, BMP6

Publications for Glycogen Storage Disease I

Sources:
51PubMed
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Articles related to Glycogen Storage Disease I:

(show top 50)    (show all 175)
idTitleAuthorsYear
1
Detection of a novel mutation in the GAA gene in an Iranian child with glycogen storage disease type II. (23360637)
2013
2
Exercise intolerance in Glycogen Storage Disease Type III: weakness or energy deficiency? (23507172)
2013
3
Quality of Life in Adult Patients with Glycogen Storage Disease Type I: Results of a Multicenter Italian Study. (24363035)
2013
4
Diffuse reticuloendothelial system involvement in type IV glycogen storage disease with a novel GBE1 mutation: a case report and review. (22305237)
2012
5
Glycogen-branching enzyme deficiency leads to abnormal cardiac development: novel insights into glycogen storage disease IV. (21075835)
2011
6
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
7
Acoustic accessibility investigation for ultrasound mediated treatment of glycogen storage disease type Ia patients. (21767906)
2011
8
Late onset glycogen storage disease type II with reducing body-like inclusions. (20040332)
2010
9
Bispectral index may not reflect the depth of anaesthesia in a patient with glycogen storage disease type I. (19749120)
2009
10
Diagnosis of glycogen storage disease type IIIA by detecting glycogen debranching enzyme activity, glycogen content and structure in muscle]. (19951495)
2009
11
Myasthenia gravis in a patient affected by glycogen storage disease type Ib: a further manifestation of an increased risk for autoimmune disorders? (18437526)
2008
12
An adult case of glycogen storage disease type IIIa. (18617770)
2008
13
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
14
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
15
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
16
Placental involvement in glycogen storage disease type IV. (18289670)
2008
17
Absence of severe recurrent infections in glycogen storage disease type Ib with neutropenia and neutrophil dysfunction. (17187242)
2007
18
Increased scavenger receptor class B type I-mediated cellular cholesterol efflux and antioxidant capacity in the sera of glycogen storage disease type Ia patients. (16777453)
2006
19
Increased cellular cholesterol efflux in glycogen storage disease type Ia mice: a potential mechanism that protects against premature atherosclerosis. (16098970)
2005
20
Glycogen storage disease type III in Inuit children. (15684118)
2005
21
Fatal infantile neuromuscular presentation of glycogen storage disease type IV. (15019703)
2004
22
Mutation spectrum of the glucose-6-phosphatase gene and its implication in molecular diagnosis of Korean patients with glycogen storage disease type Ia. (15151508)
2004
23
Inhibition of microsomal glucose-6-phosphate transport in human neutrophils results in apoptosis: a potential explanation for neutrophil dysfunction in glycogen storage disease type 1b. (12424192)
2003
24
Type I glycogen storage disease: favourable outcome on a strict management regimen avoiding increased lactate production during childhood and adolescence. (12373569)
2002
25
Dental disease indices and caries-related microflora in children with glycogen storage disease. (11853251)
2002
26
Homozygosity for multiple contiguous single-nucleotide polymorphisms as an indicator of large heterozygous deletions: identification of a novel heterozygous 8-kb intragenic deletion (IVS7-19 to IVS15-17) in a patient with glycogen storage disease type II. (11854868)
2002
27
Glycogen storage disease types 1 and 2: recent developments, management and outcome. Proceedings of an international symposium. Fulda, Germany, November 2000. (12373564)
2002
28
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
29
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
30
Glycogen storage disease type Ia: four novel mutations (175delGG, R170X, G266V and V338F) identified. (10094563)
1999
31
Case report: Hepatocellular carcinoma in type 1a glycogen storage disease with identification of a glucose-6-phosphatase gene mutation in one family. (10385064)
1999
32
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
33
Glycogen storage disease and von Willebrand's disease implications for dental treatment: dental management of a pediatric patient. (10483452)
1998
34
The identification of five novel mutations in the lysosomal acid alpha-(1,4) glucosidase gene from patients with glycogen storage disease type II. (10206684)
1998
35
Molecular analysis of glycogen storage disease type Ib: identification of a prevalent mutation among Japanese patients and assignment of a putative glucose-6-phosphate translocase gene to chromosome 11. (9675154)
1998
36
Glycogen storage disease type II: identification of a dinucleotide deletion and a common missense mutation in the lysosomal alpha- glucosidase gene. (9660056)
1998
37
Glycogen storage disease type 1a in Israel: biochemical, clinical, and mutational studies. (9332655)
1997
38
A nonsense mutation due to a single base insertion in the 3'-coding region of glycogen debranching enzyme gene associated with a severe phenotype in a patient with glycogen storage disease type IIIa. (8990006)
1997
39
Glycogen-storage disease type II (acid maltase deficiency): identification of a novel small deletion (delCC482+483) in French patients. (9196050)
1997
40
Immune deficiency in glycogen storage disease type 1B. (9007171)
1996
41
Characterization of the mutations in the glucose-6-phosphatase gene in Israeli patients with glycogen storage disease type 1a: R83C in six Jews and a novel V166G mutation in a Muslim Arab. (7623438)
1995
42
Recombinant human G-CSF (Lenograstim) for infectious complications in glycogen storage disease type Ib. Report of 7 cases. (7512258)
1994
43
Impairment of calcium mobilization in phagocytic cells in glycogen storage disease type 1b. (8319725)
1993
44
Improvement of neutropenia and neutrophil dysfunction by granulocyte colony-stimulating factor in a patient with glycogen storage disease type Ib. (7680314)
1993
45
Interferon-gamma corrects the respiratory burst defect in vitro in monocyte-derived macrophages from glycogen storage disease type 1b patients. (8134165)
1993
46
Fatal familial infantile glycogen storage disease: multisystem phosphofructokinase deficiency. (1533013)
1992
47
Chronic inflammatory bowel disease in glycogen storage disease type 1B. (1779622)
1991
48
Immunoblot analyses of glycogen debranching enzyme in different subtypes of glycogen storage disease type III. (2295969)
1990
49
Glycogen storage disease type 1b: genetic disorder involving the transport system of intracellular membrane. (2831040)
1987
50
Phosphorylase kinase deficiency: severe glycogen storage disease with evidence of autosomal recessive mode of inheritance. (6962066)
1982

Genetic Variations for Glycogen Storage Disease I

Expression for genes affiliated with Glycogen Storage Disease I

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Glycogen Storage Disease I

Search GEO for disease gene expression data for Glycogen Storage Disease I.

Pathways for genes affiliated with Glycogen Storage Disease I

Sources:
54Reactome, 12EMD Millipore, 38NCBI BioSystems Database, 30KEGG
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Pathways related to Glycogen Storage Disease I according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.0SLC37A4, G6PC
2
Hide members
9.0SLC37A4, G6PC
3
Hide members
9.0SLC37A4, G6PC
49.0SLC37A4, G6PC

Compounds for genes affiliated with Glycogen Storage Disease I

Sources:
45Novoseek, 24HMDB, 29IUPHAR, 60Tocris Bioscience, 11DrugBank
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Compounds related to Glycogen Storage Disease I according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1mannose 6-phosphate45 2410.2G6PC, BMP6
2uric acid45 2410.2SLC37A4, G6PC
3troglitazone45 29 60 1112.2BMP6, G6PC
4glucose 6-phosphate45 2410.2G6PC, SLC37A4
5dmso459.1G6PC, BMP6
6glutamine459.1G6PC, BMP6
7rapamycin459.0G6PC, BMP6
8glycogen45 249.7SLC37A4, G6PC
9lactate458.7SLC37A4, G6PC, BMP6

GO Terms for genes affiliated with Glycogen Storage Disease I

Sources:
16Gene Ontology
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Cellular components related to Glycogen Storage Disease I according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1integral to endoplasmic reticulum membraneGO:0301769.0SLC37A4, G6PC

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

idNameGO IDScoreTop Affiliating Genes
1glucose-6-phosphate transportGO:0157609.1SLC37A4, G6PC
2hexose transportGO:0086459.0SLC37A4, G6PC
3carbohydrate metabolic processGO:0059759.0SLC37A4, G6PC
4glucose transportGO:0157588.9G6PC, SLC37A4
5glucose homeostasisGO:0425938.7SLC37A4, G6PC

Products for genes affiliated with Glycogen Storage Disease I

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Glycogen Storage Disease I

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