MCID: GLY002
MIFTS: 36

Glycogen Storage Disease I malady

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

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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 hepatocellular adenoma. An important gene associated with Glycogen Storage Disease I is SLC37A4 (solute carrier family 37 (glucose-6-phosphate transporter), member 4). The compound lactate have been mentioned in the context of this disorder. Affiliated tissues include liver and kidney, and related mouse phenotypes are growth/size/body and skeleton.

Description from OMIM:47 232220,232240,232200

GeneReviews summary for gsd1

Aliases & Classifications for Glycogen Storage Disease I

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8Disease Ontology, 19GeneReviews, 20GeneTests, 22GTR, 21Genetics Home Reference, 45Novoseek, 62UMLS, 47OMIM, 40NCIt, 58SNOMED-CT, 35MeSH
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Classifications:



Aliases & Descriptions:

glycogen storage disease i 8
glycogen storage disease type i 8 19 20 22 21 45 62
glucose-6-phosphate transport defect 21 62
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

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17GeneCards, 18GeneDecks
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Graphical network of diseases related to Glycogen Storage Disease I:



Diseases related to glycogen storage disease i

Symptoms for Glycogen Storage Disease I

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47OMIM
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Clinical features from OMIM:

232220,232240,232200

Drugs & Therapeutics for Glycogen Storage Disease I

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Sources:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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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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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

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

33
Liver, Kidney

Animal Models for Glycogen Storage Disease I or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Glycogen Storage Disease I:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053789.1SLC37A4, BMP6
2MP:00053908.8SLC37A4, BMP6

Publications for Glycogen Storage Disease I

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52PubMed
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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

Variations for Glycogen Storage Disease I

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Sources:
1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Glycogen Storage Disease I:

1 (show all 17)
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
9SLC37A4NM_001164277.1(SLC37A4): c.1099G> A (p.Ala367Thr)single nucleotide variantPathogenicrs80356492GRCh37Chr 11, 118895925: 118895925
10G6PCNM_000151.3(G6PC): c.248G> A (p.Arg83His)single nucleotide variantPathogenicrs1801176GRCh37Chr 17, 41055965: 41055965
11SLC37A4NM_001164277.1(SLC37A4): c.1015G> T (p.Gly339Cys)single nucleotide variantPathogenicrs80356490GRCh37Chr 11, 118896009: 118896009
12SLC37A4NM_001164277.1(SLC37A4): c.1063G> T (p.Glu355Ter)single nucleotide variantPathogenicrs121908975GRCh37Chr 11, 118895961: 118895961
13SLC37A4NM_001164277.1(SLC37A4): c.352T> C (p.Trp118Arg)single nucleotide variantPathogenicrs80356489GRCh37Chr 11, 118898933: 118898933
14SLC37A4NM_001164277.1(SLC37A4): c.1042_1043delCT (p.Leu348Valfs)deletionPathogenicrs80356491GRCh37Chr 11, 118895981: 118895982
15SLC37A4NM_001164277.1(SLC37A4): c.83G> A (p.Arg28His)single nucleotide variantPathogenicrs121908978GRCh37Chr 11, 118899997: 118899997
16SLC37A4NM_001164277.1(SLC37A4): c.1243C> T (p.Arg415Ter)single nucleotide variantPathogenicrs121908979GRCh37Chr 11, 118895667: 118895667
17SLC37A4NM_001164277.1(SLC37A4): c.1016G> A (p.Gly339Asp)single nucleotide variantPathogenicrs121908980GRCh37Chr 11, 118896008: 118896008

Expression for genes affiliated with Glycogen Storage Disease I

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2BioGPS, 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

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Compounds for genes affiliated with Glycogen Storage Disease I

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45Novoseek
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Compounds related to Glycogen Storage Disease I according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1lactate459.1SLC37A4, BMP6

GO Terms for genes affiliated with Glycogen Storage Disease I

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Products for genes affiliated with Glycogen Storage Disease I

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Glycogen Storage Disease I

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet