MCID: GLY002
MIFTS: 42

Glycogen Storage Disease I malady

Liver diseases category

Summaries for Glycogen Storage Disease I

About this section
Sources:
8Disease Ontology, 46OMIM, 19GeneReviews, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
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 glycogen storage disease. 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, and related mouse phenotype skeleton.

Description from OMIM:46 232200,232240,232220

GeneReviews summary for gsd1

Aliases & Classifications for Glycogen Storage Disease I

About this section
Sources:
8Disease Ontology, 21Genetics Home Reference, 19GeneReviews, 20GeneTests, 22GTR, 44Novoseek, 60UMLS, 56SNOMED-CT, 39NCIt, 34MeSH, 46OMIM
See all sources

Classifications:

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


Aliases & Descriptions:

glycogen storage disease i 8
glycogen storage disease type i 8 19 20 22 21 44 60
glucose-6-phosphate transport defect 21 60
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
NCIt39 C84733
MeSH34 D005953

Related Diseases for Glycogen Storage Disease I

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

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 42)
idRelated DiseaseScoreTop Affiliating Genes
1adenoma30.9G6PC
2glycogen storage disease30.7SLC37A4, G6PC
3hypoglycemia30.4G6PC, SLC37A4
4glycogen storage disease type 1a30.1SLC37A4, G6PC
5glycogen storage disease iii10.4
6glycogen storage disease ix10.4
7lipid storage disease10.4
8liver disease10.4
9stroke, ischemic10.3
10glycogen storage disease ii10.3
11glycogen storage disease v10.3
12autoimmune thyroiditis10.3
13fanconi syndrome10.3
14hypercalcemia10.3
15hepatitis a10.3
16brain disease10.3
17hypothyroidism10.3
18intestinal disease10.3
19kidney disease10.3
20lysosomal storage disease10.3
21proteinuria10.3
22thyroiditis10.3
23vascular disease10.3
24glycogen storage disease type 1b10.3
25arthritis10.2
26hepatocellular carcinoma10.2
27renal adenoma10.2
28xanthomatosis10.2
29hepatitis10.2
30hepatorenal syndrome10.2
31phosphorylase kinase deficiency10.2
32juvenile hereditary hemochromatosis10.2
33gilbert syndrome10.0
34choledocholithiasis10.0
35hyperuricemia10.0G6PC
36sudden infant death syndrome10.0G6PC
37hyperglycemia10.0G6PC
38glioblastoma multiforme10.0G6PC, BMP6
39familial hyperlipidemia10.0SLC37A4, G6PC
40metabolic syndrome x10.0SLC37A4, G6PC
41neutropenia10.0SLC37A4, G6PC
42primary 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

About this section
Sources:
46OMIM
See all sources

Clinical features from OMIM:

232200,232240,232220

Drugs & Therapeutics for Glycogen Storage Disease I

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-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

About this section
Sources:
20GeneTests, 22GTR
See all sources

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

About this section
Sources:
32MalaCards
See all sources

MalaCards organs/tissues related to Glycogen Storage Disease I:

32
Liver, Kidney, Bone, Brain, Thyroid

Animal Models for Glycogen Storage Disease I or affiliated genes

About this section
Sources:
36MGI
See all sources

MGI Mouse Phenotypes related to Glycogen Storage Disease I:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053908.5SLC37A4, G6PC, BMP6

Publications for Glycogen Storage Disease I

About this section
Sources:
50PubMed
See all sources

Articles related to Glycogen Storage Disease I:

(show top 50)    (show all 64)
idTitleAuthorsYear
1
Continuous glucose monitoring in children with glycogen storage disease type I. (24149443)
2014
2
Menorrhagia in patients with type I glycogen storage disease. (24201678)
2013
3
Quality of Life in Adult Patients with Glycogen Storage Disease Type I: Results of a Multicenter Italian Study. (24363035)
2013
4
Asymmetric dimethylarginine (ADMA) and L-arginine levels in children with glycogen storage disease type I. (23412857)
2013
5
Fertility and pregnancy in women affected by glycogen storage disease type I, results of a multicenter Italian study. (22562700)
2013
6
Molecular characterization of hepatocellular adenomas developed in patients with glycogen storage disease type I. (23046672)
2013
7
Hypercalcemia in glycogen storage disease type I patients of Turkish origin. (22397040)
2012
8
Multiple hepatocellular adenomas in a patient with glycogen storage disease type I: various enhancement patterns in MRI with Gd-EOB-DTPA. (21416130)
2012
9
Hepatorenal correction in murine glycogen storage disease type I with a double-stranded adeno-associated virus vector. (21730973)
2011
10
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
11
Dietary dilemmas in the management of glycogen storage disease type I. (21491105)
2011
12
Hypovitaminosis D in glycogen storage disease type I. (20060350)
2010
13
Ischemic stroke in an adult with glycogen storage disease type I. (20699197)
2010
14
Renal function in glycogen storage disease type I, natural course, and renopreservative effects of ACE inhibition. (19808227)
2009
15
Vascular dysfunction in glycogen storage disease type I. (19101686)
2009
16
Cell death and stress signaling in glycogen storage disease type I. (19756389)
2009
17
Bispectral index may not reflect the depth of anaesthesia in a patient with glycogen storage disease type I. (19749120)
2009
18
Emerging therapies for glycogen storage disease type I. (19541498)
2009
19
Efficacy of oral sildenafil in a beraprost-treated patient with severe pulmonary hypertension secondary to type I glycogen storage disease. (19179780)
2009
20
Psychosocial functioning in youth with glycogen storage disease type I. (18296725)
2008
21
Glycogen storage disease type I in Tunisia: an epidemiological analysis. (18679824)
2008
22
Increased prevalence of thyroid autoimmunity and hypothyroidism in patients with glycogen storage disease type I. (17307551)
2007
23
Gene therapy for type I glycogen storage diseases. (17430128)
2007
24
Glycogen storage disease type I--between chronic ambulatory follow-up and pediatric emergency. (17410288)
2007
25
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
26
Exercise capacity and biochemical profile during exercise in patients with glycogen storage disease type I. (15671110)
2005
27
Clinical evaluation of a portable lactate meter in type I glycogen storage disease. (16151900)
2005
28
Mutation spectrum of type I glycogen storage disease in Hungary. (16435186)
2005
29
Brain damage in glycogen storage disease type I. (15127000)
2004
30
Bone mineral density and markers of bone turnover in patients with glycogen storage disease types I, III and IX. (14970741)
2004
31
Pulmonary arterial hypertension and type-I glycogen-storage disease: the serotonin hypothesis. (12166582)
2002
32
Type I glycogen storage disease: favourable outcome on a strict management regimen avoiding increased lactate production during childhood and adolescence. (12373569)
2002
33
Glycogen storage disease type I: pathophysiology of liver adenomas. (12373570)
2002
34
Glycogen storage disease type I: diagnosis, management, clinical course and outcome. Results of the European Study on Glycogen Storage Disease Type I (ESGSD I). (12373567)
2002
35
Guidelines for management of glycogen storage disease type I - European Study on Glycogen Storage Disease Type I (ESGSD I). (12373584)
2002
36
Intestinal function in glycogen storage disease type I. (12227456)
2002
37
Glycogen storage disease type I: diagnosis and phenotype/genotype correlation. (12373566)
2002
38
Spontaneous regression of hepatic adenoma in a patient with glycogen storage disease type I after hemodialysis: ultrasonographic and CT findings. (11579951)
2001
39
Effect of ramipril in a patient with glycogen storage disease type I and nephrotic-range proteinuria. (11768587)
2001
40
Continuous glucose monitoring in children with glycogen storage disease type I. (11916320)
2001
41
Recombinant human acid alpha-glucosidase enzyme therapy for infantile glycogen storage disease type II: results of a phase I/II clinical trial. (11286229)
2001
42
The putative glucose 6-phosphate translocase gene is mutated in essentially all cases of glycogen storage disease type I non-a. (10482962)
1999
43
Glucose production in glycogen storage disease I is not associated with increased cycling through hepatic glycogen. (7485494)
1995
44
Glycogen storage disease I and hepatocellular tumours. (8391447)
1993
45
Glycogen Storage Disease Type I (20301489)
1993
46
Beneficial effects of fish-oil supplements on lipids, lipoproteins, and lipoprotein lipase in patients with glycogen storage disease type I. (8503363)
1993
47
Type I glycogen storage disease: kidney involvement, pathogenesis and its treatment. (2025544)
1991
48
Peliosis hepatis with type I glycogen storage disease. (1779631)
1991
49
Hepatic ultrasonography in type I glycogen storage disease (von Gierke disease). Detection of hepatic adenoma and carcinoma. (6272355)
1981
50
A new variant of glycogen storage disease type I probably due to a defect in the glucose-6-phosphate transport system. (212064)
1978

Genetic Variations for Glycogen Storage Disease I

About this section

Expression for genes affiliated with Glycogen Storage Disease I

About this section
Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

About this section
Sources:
53Reactome, 12EMD Millipore, 37NCBI BioSystems Database, 29KEGG
See all sources

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

About this section
Sources:
44Novoseek, 24HMDB, 28IUPHAR, 59Tocris Bioscience, 11DrugBank
See all sources

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

idCompoundScoreTop Affiliating Genes
1mannose 6-phosphate44 2410.2G6PC, BMP6
2uric acid44 2410.2SLC37A4, G6PC
3troglitazone44 28 59 1112.2BMP6, G6PC
4glucose 6-phosphate44 2410.2G6PC, SLC37A4
5dmso449.1G6PC, BMP6
6glutamine449.1G6PC, BMP6
7rapamycin449.0G6PC, BMP6
8glycogen44 249.7SLC37A4, G6PC
9lactate448.7SLC37A4, G6PC, BMP6

GO Terms for genes affiliated with Glycogen Storage Disease I

About this section
Sources:
16Gene Ontology
See all sources

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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Glycogen Storage Disease I

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet