MCID: GLY029
MIFTS: 27

Glycogen Storage Disease Type 1b malady

Summaries for Glycogen Storage Disease Type 1b

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64Wikipedia, 47OMIM, 33MalaCards
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Wikipedia:64 Glycogen storage disease type I (GSD I) or von Gierke\'s disease, is the most common of the glycogen... more...

MalaCards: Glycogen Storage Disease Type 1b, also known as glucose-6-phosphate transport defect, is related to hypoglycemia and glycogen storage disease i. An important gene associated with Glycogen Storage Disease Type 1b 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 dmso and uric acid have been mentioned in the context of this disorder. Related mouse phenotype renal/urinary system.

Description from OMIM:47 232220

Aliases & Classifications for Glycogen Storage Disease Type 1b

Sources:
61UMLS, 43NIH Rare Diseases, 20GeneTests, 22GTR, 47OMIM
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Aliases & Descriptions:

glycogen storage disease type 1b 43 20
glucose-6-phosphate transport defect 43 22 61
glucose-6-phosphate translocase deficiency 61
glycogen storage disease ib 47
gsd1b 43


Related Diseases for Glycogen Storage Disease Type 1b

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17GeneCards, 18GeneDecks
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Graphical network of diseases related to Glycogen Storage Disease Type 1b:



Diseases related to glycogen storage disease type 1b

Clinical Features for Glycogen Storage Disease Type 1b

Sources:
47OMIM
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Clinical features from OMIM:

232220

Clinical synopsis from OMIM:

232220

Drugs & Therapeutics for Glycogen Storage Disease Type 1b

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Glycogen Storage Disease Type 1b

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20GeneTests, 22GTR
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Genetic tests related to Glycogen Storage Disease Type 1b:

id Genetic test Affiliating Genes
1 Glycogen Storage Disease Type Ib20 SLC37A4
2 Glucose-6-phosphate Transport Defect22

Anatomical Context for Glycogen Storage Disease Type 1b

Animal Models for Glycogen Storage Disease Type 1b or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Glycogen Storage Disease Type 1b:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.8SLC37A4, G6PC, CSF3

Publications for Glycogen Storage Disease Type 1b

Genetic Variations for Glycogen Storage Disease Type 1b

Sources:
63UniProtKB/Swiss-Prot
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Expression for genes affiliated with Glycogen Storage Disease Type 1b

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

Search GEO for disease gene expression data for Glycogen Storage Disease Type 1b.

Pathways for genes affiliated with Glycogen Storage Disease Type 1b

Sources:
54Reactome, 12EMD Millipore, 38NCBI BioSystems Database, 30KEGG
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Compounds for genes affiliated with Glycogen Storage Disease Type 1b

Sources:
45Novoseek, 24HMDB
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Compounds related to Glycogen Storage Disease Type 1b according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1dmso459.3G6PC, CSF3
2uric acid45 2410.2SLC37A4, G6PC
3glucose 6-phosphate45 2410.0SLC37A4, G6PC

GO Terms for genes affiliated with Glycogen Storage Disease Type 1b

Sources:
16Gene Ontology
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Cellular components related to Glycogen Storage Disease Type 1b according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1integral to endoplasmic reticulum membraneGO:0301769.3SLC37A4, G6PC

Biological processes related to Glycogen Storage Disease Type 1b according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1glucose-6-phosphate transportGO:0157609.4SLC37A4, G6PC
2hexose transportGO:0086459.4SLC37A4, G6PC
3glucose transportGO:0157589.2G6PC, SLC37A4
4transportGO:0068109.1FXYD2, SLC37A4
5glucose homeostasisGO:0425939.0SLC37A4, G6PC
6transmembrane transportGO:0550858.5FXYD2, SLC37A4, G6PC

Molecular functions related to Glycogen Storage Disease Type 1b according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1transporter activityGO:0052159.1SLC37A4, FXYD2

Products for genes affiliated with Glycogen Storage Disease Type 1b

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Glycogen Storage Disease Type 1b

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