MCID: GLY029
MIFTS: 35

Glycogen Storage Disease Type 1b malady

Summaries for Glycogen Storage Disease Type 1b

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63Wikipedia, 46OMIM, 32MalaCards
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Wikipedia:63 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 glycogen storage disease and neutropenia. 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:46 232220

Aliases & Classifications for Glycogen Storage Disease Type 1b

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60UMLS, 42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM
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Aliases & Descriptions:

glycogen storage disease type 1b 42 20
glucose-6-phosphate transport defect 42 22 60
glucose-6-phosphate translocase deficiency 60
glycogen storage disease ib 46
gsd1b 42


Related Diseases for Glycogen Storage Disease Type 1b

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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 Type 1b via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 23)
idRelated DiseaseScoreTop Affiliating Genes
1glycogen storage disease31.7SLC37A4, G6PC, CSF3
2neutropenia30.8CSF3, G6PC, SLC37A4
3hypoglycemia30.5SLC37A4, G6PC
4inflammatory bowel disease10.6
5glucose-6-phosphate translocase deficiency10.5
6liver disease10.5
7biotin deficiency10.3
8brain disease10.3
9chromosomal disease10.3
10diabetes mellitus10.3
11leukocyte disease10.3
12juvenile hereditary hemochromatosis10.3
13glycogen storage disease i10.3
14crohn's disease10.3
15ulcerative colitis10.3
16liver cirrhosis10.3
17hyperuricemia10.0G6PC
18sudden infant death syndrome10.0G6PC
19glioblastoma multiforme10.0G6PC
20adenoma10.0G6PC
21glycogen storage disease type 1a10.0SLC37A4, G6PC
22familial hyperlipidemia10.0G6PC, SLC37A4
23metabolic syndrome x10.0SLC37A4, G6PC

Graphical network of the top 20 diseases related to Glycogen Storage Disease Type 1b:



Diseases related to glycogen storage disease type 1b

Clinical Features for Glycogen Storage Disease Type 1b

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46OMIM
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Clinical features from OMIM:

232220

Clinical synopsis from OMIM:

232220

Drugs & Therapeutics for Glycogen Storage Disease Type 1b

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Glycogen Storage Disease Type 1b

Search CenterWatch for Glycogen Storage Disease Type 1b

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

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

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36MGI
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MGI Mouse Phenotypes related to Glycogen Storage Disease Type 1b:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.8SLC37A4, G6PC, CSF3

Publications for Glycogen Storage Disease Type 1b

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Genetic Variations for Glycogen Storage Disease Type 1b

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62UniProtKB/Swiss-Prot
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Expression for genes affiliated with Glycogen Storage Disease Type 1b

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

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Pathways for genes affiliated with Glycogen Storage Disease Type 1b

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53Reactome, 12EMD Millipore, 37NCBI BioSystems Database, 29KEGG
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Compounds for genes affiliated with Glycogen Storage Disease Type 1b

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44Novoseek, 24HMDB
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Compounds related to Glycogen Storage Disease Type 1b according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1dmso449.3G6PC, CSF3
2uric acid44 2410.2SLC37A4, G6PC
3glucose 6-phosphate44 2410.0SLC37A4, G6PC

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

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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:0157589.2SLC37A4, G6PC
4transportGO:0068109.1SLC37A4, FXYD2
5glucose homeostasisGO:0425939.0SLC37A4, G6PC
6transmembrane transportGO:0550858.5G6PC, FXYD2, SLC37A4

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

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  • Antibodies
  • Proteins
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  • Antibodies

Sources for Glycogen Storage Disease Type 1b

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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet