MCID: GLY029
MIFTS: 48

Glycogen Storage Disease Type 1b malady

Genetic diseases, Rare diseases, Metabolic diseases, Liver diseases, Neuronal diseases, Cardiovascular diseases, Blood diseases, Muscle diseases, Nephrological diseases categories
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Summaries for Glycogen Storage Disease Type 1b

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Wikipedia:65 Glycogen storage disease type I (GSD I) or von Gierke\'s disease, is the most common of the glycogen... more...

MalaCards based summary: Glycogen Storage Disease Type 1b, also known as glucose-6-phosphate transport defect, is related to glycogen storage disease and neutropenia, and has symptoms including 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 PI3K-Akt signaling pathway and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. The compounds dmso and uric acid have been mentioned in the context of this disorder. Affiliated tissues include neutrophil, liver and bone marrow, and related mouse phenotype renal/urinary system.

Description from OMIM:46 232220

Aliases & Classifications for Glycogen Storage Disease Type 1b

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Glycogen Storage Disease Type 1b, Aliases & Descriptions:

Name: Glycogen Storage Disease Type 1b 42 20
Glucose-6-Phosphate Transport Defect 42 22 62
 
Glycogen Storage Disease Ib 46 62
Gsd1b 42


Classifications:



Related Diseases for Glycogen Storage Disease Type 1b

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



Diseases related to glycogen storage disease type 1b

Symptoms for Glycogen Storage Disease Type 1b

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Symptoms by clinical synopsis from OMIM:

232220

Clinical features from OMIM:

232220

HPO human phenotypes related to Glycogen Storage Disease Type 1b:

(show all 25)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 proteinuria HP:0000093
3 focal segmental glomerulosclerosis HP:0000097
4 enlarged kidneys HP:0000105
5 oral ulcer HP:0000155
6 doll-like facies HP:0000295
7 lipemia retinalis HP:0000660
8 nephrolithiasis HP:0000787
9 hypertension HP:0000822
10 delayed puberty HP:0000823
11 osteoporosis HP:0000939
12 xanthomatosis HP:0000991
13 hepatocellular carcinoma HP:0001402
14 protuberant abdomen HP:0001538
15 pancreatitis HP:0001733
16 neutropenia HP:0001875
17 hypoglycemia HP:0001943
18 gout HP:0001997
19 hepatomegaly HP:0002240
20 recurrent bacterial infections HP:0002718
21 elevated hepatic transaminases HP:0002910
22 hyperlipidemia HP:0003077
23 lactic acidosis HP:0003128
24 short stature HP:0004322
25 decreased glomerular filtration rate HP:0012213

Drugs & Therapeutics for Glycogen Storage Disease Type 1b

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Drug clinical trials:

Search ClinicalTrials for Glycogen Storage Disease Type 1b

Search NIH Clinical Center for Glycogen Storage Disease Type 1b

Genetic Tests for Glycogen Storage Disease Type 1b

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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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MalaCards organs/tissues related to Glycogen Storage Disease Type 1b:

32
Neutrophil, Liver, Bone marrow, Bone, Brain

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

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

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.5SLC37A4, CSF3, G6PC

Publications for Glycogen Storage Disease Type 1b

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Articles related to Glycogen Storage Disease Type 1b:

(show all 48)
idTitleAuthorsYear
1
Glycemic management in living donor liver transplantation for patients with glycogen storage disease type 1b. (22574785)
2012
2
Biotin deficiency in a glycogen storage disease type 1b girl fed only with glycogen storage disease-related formula. (21371115)
2011
3
Cutaneous ulcers and glycogen storage disease type 1b]. (20470920)
2010
4
Vitamin E supplementation improves neutropenia and reduces the frequency of infections in patients with glycogen storage disease type 1b. (19066956)
2009
5
WITHDRAWN: Novel missense mutation (Y24H) in the G6PT1 gene causing glycogen storage disease type 1b. (19321372)
2009
6
Glycogen storage disease type 1b: Mild phenotype associated with a novel splice site mutation. (19454374)
2009
7
Bone marrow transplantation in glycogen storage disease type 1b. (18206704)
2008
8
Resequencing the G6PT1 gene reveals a novel splicing mutation in a patient with glycogen storage disease type 1b. (16716283)
2006
9
Secondary diabetes mellitus: late complication of glycogen storage disease type 1b. (16042332)
2005
10
Genotype/phenotype correlation in glycogen storage disease type 1b: a multicentre study and review of the literature. (15906092)
2005
11
Inflammatory bowel disease-like colitis in a young Turkish child with glycogen storage disease type 1b and elevated platelet count. (16052862)
2005
12
A novel mutation (A148V) in the glucose 6-phosphate translocase (SLC37A4) gene in a Korean patient with glycogen storage disease type 1b. (15953877)
2005
13
Improved neutrophil function in a glycogen storage disease type 1b patient after liver transplantation. (14872340)
2004
14
Apoptotic neutrophils in the circulation of patients with glycogen storage disease type 1b (GSD1b). (12576310)
2003
15
Inhibition of microsomal glucose-6-phosphate transport in human neutrophils results in apoptosis: a potential explanation for neutrophil dysfunction in glycogen storage disease type 1b. (12424192)
2003
16
Novel missense mutation (Y24H) in the G6PT1 gene causing glycogen storage disease type 1b. (12409273)
2002
17
Granulocyte colony-stimulating factor in glycogen storage disease type 1b. Results of the European Study on Glycogen Storage Disease Type 1. (12373578)
2002
18
Consensus guidelines for management of glycogen storage disease type 1b - European Study on Glycogen Storage Disease Type 1. (12373585)
2002
19
Glucocorticoids activate transcription of the gene for the glucose-6-phosphate transporter, deficient in glycogen storage disease type 1b. (11560776)
2001
20
Crohn-like enteritis presenting as hypoglycemia in a patient with glycogen storage disease type 1b, treated with granulocyte colony-stimulating factor and splenectomy. (11321392)
2001
21
Inflammatory bowel disease-like colitis in glycogen storage disease type 1b. (11383585)
2001
22
Recombinant human granulocyte colony-stimulating factor therapy for patients with neutropenia and/or neutrophil dysfunction secondary to glycogen storage disease type 1b. (11154211)
2001
23
Glucose 6-phosphate transport in fibroblast microsomes from glycogen storage disease type 1b patients: evidence for multiple glucose 6-phosphate transport systems. (11439108)
2001
24
Glucose-6-phosphatase mutation G188R confers an atypical glycogen storage disease type 1b phenotype. (10960498)
2000
25
Prenatal diagnosis of glycogen storage disease type 1b using denaturing high performance liquid chromatography. (11015710)
2000
26
Long-term follow-up of portacaval shunt in glycogen storage disease type 1B. (10789932)
2000
27
Mutations in the glucose-6-phosphate transporter (G6PT) gene in patients with glycogen storage diseases type 1b and 1c. (10518030)
1999
28
Inactivation of the glucose 6-phosphate transporter causes glycogen storage disease type 1b. (10026167)
1999
29
Cloning and characterization of cDNAs encoding a candidate glycogen storage disease type 1b protein in rodents. (9822626)
1998
30
Structure and mutation analysis of the glycogen storage disease type 1b gene. (9781688)
1998
31
The gene for glycogen-storage disease type 1b maps to chromosome 11q23. (9463334)
1998
32
Oral manifestations and anesthesia considerations in a child with glycogen storage disease type 1b: case report. (9106875)
1997
33
Anaesthetic management of a patient with glycogen storage disease type 1b. (8723853)
1996
34
Immune deficiency in glycogen storage disease type 1B. (9007171)
1996
35
Oral sequelae of chronic neutrophil defects: case report of a child with glycogen storage disease type 1b. (7617501)
1995
36
Oral manifestations in glycogen storage disease type 1b. (7776266)
1995
37
In vitro and in vivo effects of granulocyte colony-stimulating factor on neutrophils in glycogen storage disease type 1B: granulocyte colony-stimulating factor therapy corrects the neutropenia and the defects in respiratory burst activity and Ca2+ mobilization. (7510873)
1994
38
Postnatal regression of glucose transport in a patient with glycogen storage disease type 1b. (8051933)
1994
39
Impairment of calcium mobilization in phagocytic cells in glycogen storage disease type 1b. (8319725)
1993
40
Interferon-gamma corrects the respiratory burst defect in vitro in monocyte-derived macrophages from glycogen storage disease type 1b patients. (8134165)
1993
41
Brain abscesses in glycogen-storage disease-type 1b. (1467626)
1992
42
Chronic inflammatory bowel disease in glycogen storage disease type 1B. (1779622)
1991
43
Uptake and transport of hexoses into polymorphonuclear leukocytes of patients with glycogen storage disease type 1b. (2122079)
1990
44
Impaired metabolic function and signaling defects in phagocytic cells in glycogen storage disease type 1b. (2164043)
1990
45
Glycogen storage disease type 1b: genetic disorder involving the transport system of intracellular membrane. (2831040)
1987
46
Neutrophil metabolic dysfunction in genetically heterogeneous patients with glycogen storage disease type 1b. (3025513)
1986
47
Glycogen storage disease type 1b: microsomal glucose-6-phosphatase system in two patients with different clinical findings. (6137804)
1983
48
Glycogen storage disease type 1b due to a defect of glucose-6-phosphate translocase. (6133035)
1982

Variations for Glycogen Storage Disease Type 1b

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UniProtKB/Swiss-Prot genetic disease variations for Glycogen Storage Disease Type 1b:

64 (show all 30)
id Symbol AA change Variation ID SNP ID
1SLC37A4p.Gly149GluVAR_003184rs193302892
2SLC37A4p.Gly339CysVAR_003185rs80356490
3SLC37A4p.Trp118ArgVAR_007850rs80356489
4SLC37A4p.Arg28HisVAR_016840rs121908978
5SLC37A4p.Gly20AspVAR_025581rs193302881
6SLC37A4p.Tyr24HisVAR_025582rs193302887
7SLC37A4p.Asn27LysVAR_025583rs193302889
8SLC37A4p.Arg28CysVAR_025584rs193302882
9SLC37A4p.Gly50ArgVAR_025585rs193302894
10SLC37A4p.Ser54ArgVAR_025586rs193302898
11SLC37A4p.Ser55ArgVAR_025587rs193302884
12SLC37A4p.Gly68ArgVAR_025588rs193302885
13SLC37A4p.Leu85ProVAR_025589rs193302899
14SLC37A4p.Gly88AspVAR_025590rs193302886
15SLC37A4p.Gly150ArgVAR_025592rs193302883
16SLC37A4p.Pro153LeuVAR_025593rs193302890
17SLC37A4p.Cys176ArgVAR_025594rs193302895
18SLC37A4p.Cys183ArgVAR_025595rs193302893
19SLC37A4p.Leu229ProVAR_025597rs193302902
20SLC37A4p.Ile278AsnVAR_025598rs193302900
21SLC37A4p.Arg300HisVAR_025599rs193302903
22SLC37A4p.His301ProVAR_025600rs193302891
23SLC37A4p.Gly339AspVAR_025601rs121908980
24SLC37A4p.Ala367ThrVAR_025602rs80356492
25SLC37A4p.Ala373AspVAR_025603rs193302901
26SLC37A4p.Pro191LeuVAR_032113rs193302888
27SLC37A4p.Gly50GluVAR_066394rs193302877
28SLC37A4p.Ala148ValVAR_066395rs193302879
29SLC37A4p.Trp246ArgVAR_066396rs193302878
30SLC37A4p.Arg300CysVAR_066397rs193302880

Clinvar genetic disease variations for Glycogen Storage Disease Type 1b:

6 (show all 26)
id Gene Name Type Significance SNP ID Assembly Location
1G6PCNM_000151.3(G6PC): c.379_380dupTA (p.Tyr128Thrfs)duplicationPathogenicrs80356488GRCh37Chr 17, 41059579: 41059580
2G6PCNM_000151.3(G6PC): c.247C> T (p.Arg83Cys)single nucleotide variantPathogenicrs1801175GRCh37Chr 17, 41055964: 41055964
3G6PCNM_000151.3(G6PC): c.1039C> T (p.Gln347Ter)single nucleotide variantPathogenicrs80356487GRCh37Chr 17, 41063408: 41063408
4G6PCNM_000151.3(G6PC): c.648G> T (p.Leu216=)single nucleotide variantPathogenicrs80356484GRCh37Chr 17, 41063017: 41063017
5G6PCNM_000151.3(G6PC): c.562G> C (p.Gly188Arg)single nucleotide variantPathogenicrs80356482GRCh37Chr 17, 41061435: 41061435
6G6PCNM_000151.3(G6PC): c.378_379dupAT (p.Tyr128Thrfs)duplicationPathogenicrs80356488GRCh37Chr 17, 41059579: 41059580
7G6PCNM_000151.3(G6PC): c.724C> T (p.Gln242Ter)single nucleotide variantPathogenicrs80356485GRCh37Chr 17, 41063093: 41063093
8G6PCNM_000151.3(G6PC): c.79delC (p.Gln27Argfs)deletionPathogenicrs80356479GRCh37Chr 17, 41052972: 41052972
9G6PCNM_000151.3(G6PC): c.809G> T (p.Gly270Val)single nucleotide variantPathogenicrs80356483GRCh37Chr 17, 41063178: 41063178
10G6PCNM_000151.3(G6PC): c.979_981delTTC (p.Phe327del)deletionPathogenicrs80356486GRCh37Chr 17, 41063348: 41063350
11SLC37A4NM_001164277.1(SLC37A4): c.1099G> A (p.Ala367Thr)single nucleotide variantPathogenicrs80356492GRCh37Chr 11, 118895925: 118895925
12G6PCNM_000151.3(G6PC): c.248G> A (p.Arg83His)single nucleotide variantPathogenicrs1801176GRCh37Chr 17, 41055965: 41055965
13SLC37A4NM_001164277.1(SLC37A4): c.1015G> T (p.Gly339Cys)single nucleotide variantPathogenicrs80356490GRCh37Chr 11, 118896009: 118896009
14SLC37A4NM_001164277.1(SLC37A4): c.1063G> T (p.Glu355Ter)single nucleotide variantPathogenicrs121908975GRCh37Chr 11, 118895961: 118895961
15SLC37A4NM_001164277.1(SLC37A4): c.352T> C (p.Trp118Arg)single nucleotide variantPathogenicrs80356489GRCh37Chr 11, 118898933: 118898933
16SLC37A4SLC37A4, 4-BP DEL, 2-BP INS, NT1094indelPathogenic
17SLC37A4SLC37A4, 170-BP DEL, NT148deletionPathogenic
18SLC37A4NM_001164277.1(SLC37A4): c.1042_1043delCT (p.Leu348Valfs)deletionPathogenicrs80356491GRCh37Chr 11, 118895981: 118895982
19SLC37A4SLC37A4, 12-BP INS, NT1103insertionPathogenic
20SLC37A4NM_001164277.1(SLC37A4): c.703_705delGTG (p.Val236del)deletionPathogenicrs121908977GRCh37Chr 11, 118897726: 118897728
21SLC37A4SLC37A4, IVS7, G-T, +1single nucleotide variantPathogenic
22SLC37A4SLC37A4, IVS1, G-A, +1single nucleotide variantPathogenic
23SLC37A4NM_001164277.1(SLC37A4): c.83G> A (p.Arg28His)single nucleotide variantPathogenicrs121908978GRCh37Chr 11, 118899997: 118899997
24SLC37A4NM_001164277.1(SLC37A4): c.1243C> T (p.Arg415Ter)single nucleotide variantPathogenicrs121908979GRCh37Chr 11, 118895667: 118895667
25SLC37A4NM_001164277.1(SLC37A4): c.1016G> A (p.Gly339Asp)single nucleotide variantPathogenicrs121908980GRCh37Chr 11, 118896008: 118896008
26SLC37A4SLC37A4, 794G-Asingle nucleotide variantPathogenic

Expression for genes affiliated with Glycogen Storage Disease Type 1b

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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

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

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.1CSF3, G6PC
2
Show member pathways
9.0SLC37A4, G6PC
3
Show member pathways
9.0G6PC, SLC37A4
4
Show member pathways
9.0SLC37A4, G6PC
5
Show member pathways
glycolysis37
gluconeogenesis37
Glycolysis and Gluconeogenesis37
9.0SLC37A4, G6PC
69.0SLC37A4, G6PC

Compounds for genes affiliated with Glycogen Storage Disease Type 1b

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Sources:
44Novoseek, 24HMDB, 50PharmGKB, 28IUPHAR, 11DrugBank
See all sources

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

idCompoundScoreTop Affiliating Genes
1dmso449.2CSF3, G6PC
2uric acid44 2410.2SLC37A4, G6PC
3glucose 6-phosphate44 2410.1SLC37A4, G6PC
4dexamethasone44 50 28 1112.1CSF3, G6PC
5glycogen44 2410.0G6PC, SLC37A4
6lactate448.9SLC37A4, G6PC
7superoxide44 249.8CSF3, G6PC

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

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Cellular components related to Glycogen Storage Disease Type 1b 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 Type 1b 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 Type 1b

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  • Antibodies
  • Proteins
  • Lysates

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