MCID: GLY016
MIFTS: 43

Glycogen Storage Disease Ib malady

Genetic diseases, Rare diseases, Neuronal diseases, Liver diseases, Metabolic diseases, Blood diseases, Endocrine diseases, Muscle diseases, Nephrological diseases, Cardiovascular diseases categories

Aliases & Classifications for Glycogen Storage Disease Ib

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Glycogen Storage Disease Ib, Aliases & Descriptions:

Name: Glycogen Storage Disease Ib 45 10
Glucose-6-Phosphate Transport Defect 41 22 60
Glycogen Storage Disease Type 1b 41 20
Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency Type B 41
Glycogenosis Due to Glucose-6-Phosphatase Deficiency Type B 41
Glycogenosis Due to Glucose-6-Phosphatase Transport Defect 41
Glycogen Storage Disease Due to G6p Deficiency Type B 41
Gsd Due to G6p Deficiency Type B 41
G6p Translocase Deficiency 41
 
Gsd Due to G6pt Deficiency 41
G6p Deficiency Type B 41
Glycogenosis Type Ib 41
Gsd Type 1 Non a 41
G6pt Deficiency 41
Gsd Type 1b 41
Gsd1b 41
Gsdib 41


Classifications:



External Ids:

OMIM45 232220

Summaries for Glycogen Storage Disease Ib

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MalaCards based summary: Glycogen Storage Disease Ib, also known as glucose-6-phosphate transport defect, is related to glycogen storage disease and neutropenia, and has symptoms including autosomal recessive inheritance, proteinuria and focal segmental glomerulosclerosis. An important gene associated with Glycogen Storage Disease Ib 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 uric acid and glucose 6-phosphate have been mentioned in the context of this disorder. Affiliated tissues include kidney, liver and neutrophil, and related mouse phenotypes are renal/urinary system and liver/biliary system.

Description from OMIM:45 232220

Related Diseases for Glycogen Storage Disease Ib

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Graphical network of diseases related to Glycogen Storage Disease Ib:



Diseases related to glycogen storage disease ib

Symptoms for Glycogen Storage Disease Ib

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Symptoms by clinical synopsis from OMIM:

232220

Clinical features from OMIM:

232220

HPO human phenotypes related to Glycogen Storage Disease Ib:

(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 Ib

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Drug clinical trials:

Search ClinicalTrials for Glycogen Storage Disease Ib

Search NIH Clinical Center for Glycogen Storage Disease Ib

Genetic Tests for Glycogen Storage Disease Ib

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Genetic tests related to Glycogen Storage Disease Ib:

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

Anatomical Context for Glycogen Storage Disease Ib

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MalaCards organs/tissues related to Glycogen Storage Disease Ib:

31
Kidney, Liver, Neutrophil

Animal Models for Glycogen Storage Disease Ib or affiliated genes

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MGI Mouse Phenotypes related to Glycogen Storage Disease Ib:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053679.1SLC37A4, G6PC
2MP:00053708.8SLC37A4, G6PC

Publications for Glycogen Storage Disease Ib

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Articles related to Glycogen Storage Disease Ib:

idTitleAuthorsYear
1
Liver cirrhosis in glycogen storage disease Ib. (23357201)
2013
2
Long term G-CSF-induced remission of ulcerative colitis-like inflammatory bowel disease in a patient with glycogen storage disease Ib and evaluation of associated neutrophil function. (20830779)
2010
3
Crohn's-like ileo-colitis in patients affected by glycogen storage disease Ib: two years' follow-up of patients with a wide spectrum of gastrointestinal signs. (14971792)
2003
4
3-methyglutaconic aciduria in a Chinese patient with glycogen storage disease Ib. (14707520)
2003
5
Improved growth with growth hormone therapy in a child with glycogen storage disease Ib. (12948077)
2003

Variations for Glycogen Storage Disease Ib

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UniProtKB/Swiss-Prot genetic disease variations for Glycogen Storage Disease Ib:

62 (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 Ib:

6 (show all 26)
id Gene Variation 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 Ib

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Search GEO for disease gene expression data for Glycogen Storage Disease Ib.

Pathways for genes affiliated with Glycogen Storage Disease Ib

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Pathways related to Glycogen Storage Disease Ib according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.1SLC37A4, G6PC
2
Show member pathways
9.1G6PC, SLC37A4
3
Show member pathways
9.1SLC37A4, G6PC
4
Show member pathways
glycolysis36
gluconeogenesis36
Glycolysis and Gluconeogenesis36
9.1G6PC, SLC37A4
59.1G6PC, SLC37A4

Compounds for genes affiliated with Glycogen Storage Disease Ib

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Sources:
43Novoseek, 24HMDB
See all sources

Compounds related to Glycogen Storage Disease Ib according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1uric acid43 2410.2SLC37A4, G6PC
2glucose 6-phosphate43 2410.1SLC37A4, G6PC
3glucose439.1SLC37A4, G6PC
4glycogen43 2410.0G6PC, SLC37A4
5lactate438.8SLC37A4, G6PC

GO Terms for genes affiliated with Glycogen Storage Disease Ib

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Cellular components related to Glycogen Storage Disease Ib according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1endoplasmic reticulum membraneGO:00057899.1SLC37A4, G6PC
2integral component of endoplasmic reticulum membraneGO:00301768.8SLC37A4, G6PC

Biological processes related to Glycogen Storage Disease Ib according to GeneCards Suite gene sharing:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1glucose-6-phosphate transportGO:00157609.3SLC37A4, G6PC
2hexose transportGO:00086459.2SLC37A4, G6PC
3glucose transportGO:00157589.2SLC37A4, G6PC
4glucose homeostasisGO:00425939.1G6PC, SLC37A4
5small molecule metabolic processGO:00442819.1SLC37A4, G6PC
6carbohydrate metabolic processGO:00059759.0SLC37A4, G6PC
7transmembrane transportGO:00550858.8SLC37A4, G6PC

Products for genes affiliated with Glycogen Storage Disease Ib

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Glycogen Storage Disease Ib

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet