MCID: GLY002
MIFTS: 46

Glycogen Storage Disease I malady

Genetic diseases, Metabolic diseases, Liver diseases, Rare diseases, Neuronal diseases, Cardiovascular diseases, Blood diseases, Muscle diseases, Nephrological diseases categories
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Summaries for Glycogen Storage Disease I

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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 based summary: Glycogen Storage Disease I, also known as glycogen storage disease type i, is related to glycogen storage disease 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 Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and MPS VI - Maroteaux-Lamy syndrome. The compounds mannose 6-phosphate and troglitazone have been mentioned in the context of this disorder. Affiliated tissues include kidney and liver, and related mouse phenotypes are growth/size/body and skeleton.

Descriptions from OMIM:46 232200,232220,232240

GeneReviews summary for gsd1

Aliases & Classifications for Glycogen Storage Disease I

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Glycogen Storage Disease I, Aliases & Descriptions:

Name: Glycogen Storage Disease I 8
Glycogen Storage Disease Type I 8 19 21 44 62
Glycogen Storage Disease, Type I 8 20 22
Hepatorenal Form of Glycogen Storage Disease 21 62
Glucose-6-Phosphate Transport Defect 21 62
Deficiency of Glucose-6-Phosphatase 8 62
Hepatorenal Glycogenosis 21 62
 
Von Gierke's Disease 8 21
Von Gierke Disease 8 21
Glucose-6-Phosphate Deficiency 21
Glycogenosis Type I 8
Gsd Type I 21
Gsd I 21


Classifications:



External Ids:

Disease Ontology8 DOID:2749
NCIt39 C84733
MeSH34 D005953

Related Diseases for Glycogen Storage Disease I

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Diseases in the Glycogen Storage Disease Ii family:

Glycogen Storage Disease Glycogen Storage Disease Iii
glycogen storage disease i Glycogen Storage Disease V
Glycogen Storage Disease Vi Glycogen Storage Disease Viii
Glycogen Storage Disease Iv Glycogen Storage Disease Vii
Glycogen Storage Disease Ix Glycogen Storage Disease Xv
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 Glycogen Storage Disease Type 1d

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

(show all 28)
idRelated DiseaseScoreTop Affiliating Genes
1glycogen storage disease30.8SLC37A4, G6PC
2hypoglycemia30.3SLC37A4, G6PC
3glycogen storage disease type 1a30.2SLC37A4, G6PC
4adenoma10.7
5hepatocellular adenoma10.6
6fanconi bickel syndrome10.4
7glycogen storage disease v10.3
8fanconi syndrome10.3
9hypercalcemia10.3
10hypothyroidism10.3
11proteinuria10.3
12thyroiditis10.3
13glycogen storage disease type 1b10.3
14arthritis10.3
15gastric cancer10.3
16hepatocellular carcinoma10.3
17xanthomatosis10.3
18hepatitis10.2
19juvenile hereditary hemochromatosis10.2
20gilbert syndrome10.0
21choledocholithiasis10.0
22primary hyperoxaluria10.0BMP6, G6PC
23liver cancer10.0BMP6, G6PC
24familial hyperlipidemia10.0G6PC, SLC37A4
25neutropenia9.9SLC37A4, G6PC
26glioblastoma9.9G6PC, BMP6
27metabolic syndrome x9.9SLC37A4, G6PC
28malignant glioma9.8BMP6, G6PC

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



Diseases related to glycogen storage disease i

Symptoms for Glycogen Storage Disease I

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Clinical features from OMIM:

232200,232220,232240

Drugs & Therapeutics for Glycogen Storage Disease I

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Drug clinical trials:

Search ClinicalTrials for Glycogen Storage Disease I

Search NIH Clinical Center for Glycogen Storage Disease I

Genetic Tests for Glycogen Storage Disease I

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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

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MalaCards organs/tissues related to Glycogen Storage Disease I:

32
Kidney, Liver

Animal Models for Glycogen Storage Disease I or affiliated genes

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MGI Mouse Phenotypes related to Glycogen Storage Disease I:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053788.5SLC37A4, BMP6, G6PC
2MP:00053908.2SLC37A4, BMP6, G6PC

Publications for Glycogen Storage Disease I

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Articles related to Glycogen Storage Disease I:

idTitleAuthorsYear
1
Transforming growth factor-beta in renal disease with glycogen storage disease I. (15064941)
2004
2
Ramipril treatment in a patient with glycogen storage disease I non-A. (12555944)
2002
3
Glucose production in glycogen storage disease I is not associated with increased cycling through hepatic glycogen. (7485494)
1995
4
Glycogen storage disease I and hepatocellular tumours. (8391447)
1993
5
Glycogen storage disease. I. Familial cardiac glycogen storage disease: report of two cases and discussion of relation to other forms of abnormal glycogen deposition. (24539252)
1950

Variations for Glycogen Storage Disease I

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Clinvar genetic disease variations for Glycogen Storage Disease I:

6 (show all 12)
id Gene Name Type Significance SNP ID Assembly Location
1G6PCNM_000151.3(G6PC): c.247C> T (p.Arg83Cys)single nucleotide variantPathogenicrs1801175GRCh37Chr 17, 41055964: 41055964
2G6PCNM_000151.3(G6PC): c.1039C> T (p.Gln347Ter)single nucleotide variantPathogenicrs80356487GRCh37Chr 17, 41063408: 41063408
3G6PCNM_000151.3(G6PC): c.648G> T (p.Leu216=)single nucleotide variantPathogenicrs80356484GRCh37Chr 17, 41063017: 41063017
4G6PCNM_000151.3(G6PC): c.562G> C (p.Gly188Arg)single nucleotide variantPathogenicrs80356482GRCh37Chr 17, 41061435: 41061435
5G6PCNM_000151.3(G6PC): c.724C> T (p.Gln242Ter)single nucleotide variantPathogenicrs80356485GRCh37Chr 17, 41063093: 41063093
6G6PCNM_000151.3(G6PC): c.79delC (p.Gln27Argfs)deletionPathogenicrs80356479GRCh37Chr 17, 41052972: 41052972
7G6PCNM_000151.3(G6PC): c.809G> T (p.Gly270Val)single nucleotide variantPathogenicrs80356483GRCh37Chr 17, 41063178: 41063178
8G6PCNM_000151.3(G6PC): c.979_981delTTC (p.Phe327del)deletionPathogenicrs80356486GRCh37Chr 17, 41063348: 41063350
9G6PCNM_000151.3(G6PC): c.248G> A (p.Arg83His)single nucleotide variantPathogenicrs1801176GRCh37Chr 17, 41055965: 41055965
10SLC37A4NM_001164277.1(SLC37A4): c.1063G> T (p.Glu355Ter)single nucleotide variantPathogenicrs121908975GRCh37Chr 11, 118895961: 118895961
11SLC37A4NM_001164277.1(SLC37A4): c.1042_1043delCT (p.Leu348Valfs)deletionPathogenicrs80356491GRCh37Chr 11, 118895981: 118895982
12SLC37A4NM_001164277.1(SLC37A4): c.1243C> T (p.Arg415Ter)single nucleotide variantPathogenicrs121908979GRCh37Chr 11, 118895667: 118895667

Expression for genes affiliated with Glycogen Storage Disease I

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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

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

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.0SLC37A4, G6PC
2
Show member pathways
9.0SLC37A4, G6PC
3
Show member pathways
9.0G6PC, SLC37A4
4
Show member pathways
glycolysis37
gluconeogenesis37
Glycolysis and Gluconeogenesis37
9.0SLC37A4, G6PC
59.0SLC37A4, G6PC

Compounds for genes affiliated with Glycogen Storage Disease I

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

(show all 12)
idCompoundScoreTop Affiliating Genes
1mannose 6-phosphate44 2410.3BMP6, G6PC
2troglitazone44 28 61 1112.3BMP6, G6PC
3dmso449.3G6PC, BMP6
4uric acid44 2410.3SLC37A4, G6PC
5glucose 6-phosphate44 2410.3G6PC, SLC37A4
6rapamycin449.2BMP6, G6PC
7glutamine449.1G6PC, BMP6
8dexamethasone44 50 28 1112.1BMP6, G6PC
9glycogen44 2410.1SLC37A4, G6PC
10aspartate449.0BMP6, G6PC
11h2o2448.8BMP6, G6PC
12lactate448.8SLC37A4, BMP6, G6PC

GO Terms for genes affiliated with Glycogen Storage Disease I

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

idNameGO IDScoreTop Affiliating Genes
1endoplasmic reticulum membraneGO:0057899.0SLC37A4, G6PC
2integral component of endoplasmic reticulum membraneGO:0301768.7SLC37A4, 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:0086459.1SLC37A4, G6PC
3glucose transportGO:0157589.0SLC37A4, G6PC
4transmembrane transportGO:0550859.0SLC37A4, G6PC
5glucose homeostasisGO:0425938.9G6PC, SLC37A4
6carbohydrate metabolic processGO:0059758.7SLC37A4, G6PC

Products for genes affiliated with Glycogen Storage Disease I

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  • Antibodies
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Sources for Glycogen Storage Disease I

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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet