MCID: GLY016
MIFTS: 43

Glycogen Storage Disease Ib malady

Genetic diseases, Rare diseases, Metabolic diseases, Liver diseases, Cardiovascular diseases, Endocrine diseases categories

Aliases & Classifications for Glycogen Storage Disease Ib

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Aliases & Descriptions for Glycogen Storage Disease Ib:

Name: Glycogen Storage Disease Ib 49 11 67
Glucose-6-Phosphate Transport Defect 45 24 65 67
Glycogen Storage Disease Type 1b 45 22
Gsd Ib 22 67
Gsd1b 45 67
 
Glucose-6-Phosphate Translocase Deficiency 22
Glycogen Storage Disease 1b 67
Gsd-Ib 67
Gsdib 22


Classifications:



External Ids:

OMIM49 232220
MedGen34 C0268146
MeSH36 D005953

Summaries for Glycogen Storage Disease Ib

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UniProtKB/Swiss-Prot:67 Glycogen storage disease 1B: A metabolic disorder characterized by impairment of terminal steps of glycogenolysis and gluconeogenesis. Patients manifest a wide range of clinical symptoms and biochemical abnormalities, including hypoglycemia, severe hepatomegaly due to excessive accumulation of glycogen, kidney enlargement, growth retardation, lactic acidemia, hyperlipidemia, and hyperuricemia. Glycogen storage disease type 1B patients also present a tendency towards infections associated with neutropenia, relapsing aphthous gingivostomatitis, and inflammatory bowel disease.

MalaCards based summary: Glycogen Storage Disease Ib, also known as glucose-6-phosphate transport defect, is related to glycogen storage disease and glucose-6-phosphate translocase deficiency, 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 Glucose metabolism and Glycosaminoglycan metabolism. Affiliated tissues include kidney, liver and neutrophil.

Description from OMIM:49 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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Interventional clinical trials:

idNameStatusNCT IDPhase
1Sleep and Quality of Life in Patients With Glycogen Storage Disease on Standard Versus Modified Uncooked CornstarchCompletedNCT02054832
2Study of the Relationship Between Glycogen Storage Disease Type Ia and Inflammatory Bowel DiseaseCompletedNCT01854242
3Study of Glycogen Storage Disease Expression in CarriersRecruitingNCT02057731

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 Ib22 SLC37A4
2 Glucose-6-Phosphate Transport Defect24

Anatomical Context for Glycogen Storage Disease Ib

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MalaCards organs/tissues related to Glycogen Storage Disease Ib:

33
Kidney, Liver, Neutrophil

Animal Models for Glycogen Storage Disease Ib or affiliated genes

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Publications for Glycogen Storage Disease Ib

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Articles related to Glycogen Storage Disease Ib:

(show all 15)
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
6
Renal carcinoma in a patient with glycogen storage disease Ib receiving long-term granulocyte colony-stimulating factor therapy. (10779042)
2000
7
Crohn's-like colitis in glycogen storage disease Ib: a case report. (8975948)
1996
8
Colony-stimulating factors for neutropenia in glycogen storage disease Ib. (1706047)
1991
9
Neutrophil dysfunction in glycogen storage disease Ib: association with Crohn's-like colitis. (1985051)
1991
10
Hexose uptake and transport in polymorphonuclear leukocytes from patients with glycogen storage disease Ib. (2377393)
1990
11
Glycogen storage disease Ib: modification of alpha 1-antitrypsin glycoprotein microheterogeneity. (2785037)
1989
12
Impaired carbohydrate metabolism of polymorphonuclear leukocytes in glycogen storage disease Ib. (3163346)
1988
13
Impaired glucose transport in polymorphonuclear leukocytes in glycogen storage disease Ib. (2828761)
1987
14
Impaired metabolic function of polymorphonuclear leukocytes in glycogen storage disease Ib. (6578930)
1983
15
Pathogenesis of glycogen storage disease IB. (6937638)
1981

Variations for Glycogen Storage Disease Ib

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

67 (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:

5 (show all 35)
id Gene Variation Type Significance SNP ID Assembly Location
1G6PCNM_000151.3(G6PC): c.379_380dupTA (p.Tyr128Thrfs)duplicationPathogenicrs80356488GRCh37Chr 17, 41059578: 41059579
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
6SLC37A4NM_001164277.1(SLC37A4): c.742C> T (p.Gln248Ter)single nucleotide variantLikely pathogenicrs781784543GRCh38Chr 11, 119026979: 119026979
7SLC37A4NM_001164277.1(SLC37A4): c.923_934dupTGGCTGGCATGA (p.Met311_Thr312insMetAlaGlyMet)duplicationLikely pathogenicrs786204477GRCh37Chr 11, 118896727: 118896738
8SLC37A4NM_001164277.1(SLC37A4): c.381+1G> Asingle nucleotide variantLikely pathogenicrs786204637GRCh38Chr 11, 119028193: 119028193
9SLC37A4NM_001164277.1(SLC37A4): c.652C> T (p.Gln218Ter)single nucleotide variantLikely pathogenicrs551439289GRCh38Chr 11, 119027069: 119027069
10SLC37A4NM_001164277.1(SLC37A4): c.1A> G (p.Met1Val)single nucleotide variantLikely pathogenicrs786204740GRCh38Chr 11, 119029369: 119029369
11G6PCNM_000151.3(G6PC): c.378_379dupAT (p.Tyr128Thrfs)duplicationPathogenicrs606231368GRCh37Chr 17, 41059577: 41059578
12G6PCNM_000151.3(G6PC): c.724C> T (p.Gln242Ter)single nucleotide variantPathogenicrs80356485GRCh37Chr 17, 41063093: 41063093
13G6PCNM_000151.3(G6PC): c.79delC (p.Gln27Argfs)deletionPathogenicrs80356479GRCh37Chr 17, 41052972: 41052972
14G6PCNM_000151.3(G6PC): c.809G> T (p.Gly270Val)single nucleotide variantPathogenicrs80356483GRCh37Chr 17, 41063178: 41063178
15G6PCNM_000151.3(G6PC): c.979_981delTTC (p.Phe327del)deletionPathogenicrs80356486GRCh37Chr 17, 41063348: 41063350
16SLC37A4NM_001164277.1(SLC37A4): c.1099G> A (p.Ala367Thr)single nucleotide variantPathogenicrs80356492GRCh37Chr 11, 118895925: 118895925
17G6PCNM_000151.3(G6PC): c.248G> A (p.Arg83His)single nucleotide variantPathogenicrs1801176GRCh37Chr 17, 41055965: 41055965
18SLC37A4NM_001164277.1(SLC37A4): c.572C> T (p.Pro191Leu)single nucleotide variantLikely pathogenicrs193302888GRCh37Chr 11, 118898391: 118898391
19SLC37A4NM_001164277.1(SLC37A4): c.70T> C (p.Tyr24His)single nucleotide variantLikely pathogenicrs193302887GRCh37Chr 11, 118900010: 118900010
20SLC37A4NM_001164277.1(SLC37A4): c.833T> A (p.Ile278Asn)single nucleotide variantLikely pathogenicrs193302900GRCh37Chr 11, 118897350: 118897350
21SLC37A4NM_001164277.1(SLC37A4): c.1015G> T (p.Gly339Cys)single nucleotide variantPathogenicrs80356490GRCh37Chr 11, 118896009: 118896009
22SLC37A4NM_001164277.1(SLC37A4): c.1063G> T (p.Glu355Ter)single nucleotide variantPathogenicrs121908975GRCh37Chr 11, 118895961: 118895961
23SLC37A4NM_001164277.1(SLC37A4): c.352T> C (p.Trp118Arg)single nucleotide variantPathogenicrs80356489GRCh37Chr 11, 118898933: 118898933
24SLC37A4SLC37A4, 4-BP DEL, 2-BP INS, NT1094indelPathogenic
25SLC37A4SLC37A4, 170-BP DEL, NT148deletionPathogenic
26SLC37A4NM_001467.5(SLC37A4): c.1042_1043delCT (p.Leu348Valfs)deletionPathogenicrs80356491GRCh37Chr 11, 118895981: 118895982
27SLC37A4NM_001164277.1(SLC37A4): c.287G> A (p.Trp96Ter)single nucleotide variantLikely pathogenic, Pathogenicrs121908976GRCh37Chr 11, 118898998: 118898998
28SLC37A4SLC37A4, 12-BP INS, NT1103insertionPathogenic
29SLC37A4NM_001164277.1(SLC37A4): c.703_705delGTG (p.Val236del)deletionPathogenicrs121908977GRCh37Chr 11, 118897726: 118897728
30SLC37A4SLC37A4, IVS7, G-T, +1single nucleotide variantPathogenic
31SLC37A4SLC37A4, IVS1, G-A, +1single nucleotide variantPathogenic
32SLC37A4NM_001164277.1(SLC37A4): c.83G> A (p.Arg28His)single nucleotide variantPathogenicrs121908978GRCh37Chr 11, 118899997: 118899997
33SLC37A4NM_001164277.1(SLC37A4): c.1243C> T (p.Arg415Ter)single nucleotide variantPathogenicrs121908979GRCh37Chr 11, 118895667: 118895667
34SLC37A4NM_001164277.1(SLC37A4): c.1016G> A (p.Gly339Asp)single nucleotide variantPathogenicrs121908980GRCh37Chr 11, 118896008: 118896008
35SLC37A4SLC37A4, 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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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:00057899.1G6PC, SLC37A4
2integral component of endoplasmic reticulum membraneGO:00301768.8G6PC, SLC37A4

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1glucose-6-phosphate transportGO:00157609.8G6PC, SLC37A4
2hexose transportGO:00086459.7G6PC, SLC37A4
3glycogen metabolic processGO:00059779.7G6PC, SLC37A4
4glucose transportGO:00157589.6G6PC, SLC37A4
5cholesterol homeostasisGO:00426329.6G6PC, SLC37A4
6transmembrane transportGO:00550859.3G6PC, SLC37A4
7triglyceride metabolic processGO:00066419.3G6PC, SLC37A4
8steroid metabolic processGO:00082029.1G6PC, SLC37A4
9carbohydrate metabolic processGO:00059759.1G6PC, SLC37A4
10glucose homeostasisGO:00425938.8G6PC, SLC37A4

Sources for Glycogen Storage Disease Ib

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet