MCID: GLY016
MIFTS: 44

Glycogen Storage Disease Ib malady

Categories: Genetic diseases, Rare diseases, Metabolic diseases, Liver diseases, Cardiovascular diseases, Endocrine diseases

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

Characteristics:

HPO:

61
glycogen storage disease ib:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 232220
MedGen34 C0268146
MeSH36 D005953
UMLS65 C0268146, C2931345

Summaries for Glycogen Storage Disease Ib

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NIH Rare Diseases:45 Glycogen storage disease type 1b (gsd1b) is an inherited condition in which the body is unable to break down a complex sugar called glycogen. as a result, glycogen accumulates in cells throughout the body. in gsd1b, specifically, glycogen and fats build up within the liver and kidneys which can cause these organs to be enlarged and not function properly. signs and symptoms of the condition generally develop at age 3 to 4 months and may include hypoglycemia, seizures, lactic acidosis, hyperuricemia (high levels of a waste product called uric acid in the body), and hyperlipidemia. affected people may also have short stature; thin arms and legs; a protruding abdomen; neutropenia (which may lead to frequent infections); inflammatory bowel disease and oral health problems. gsd1b is caused by changes (mutations) in the slc37a4 gene and is inherited in an autosomal recessive manner. although there is currently no cure for the condition, symptoms can often be managed with a special diet in combination with certain medications. last updated: 11/8/2015

MalaCards based summary: Glycogen Storage Disease Ib, also known as glucose-6-phosphate transport defect, is related to glycogen storage disease ia and gastrointestinal stromal tumor, and has symptoms including decreased glomerular filtration rate, short stature and lactic acidosis. An important gene associated with Glycogen Storage Disease Ib is SLC37A4 (Solute Carrier Family 37 Member 4), and among its related pathways are Glycosaminoglycan metabolism and Glucose metabolism. Affiliated tissues include kidney, liver and breast.

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.

Description from OMIM:49 232220

Related Diseases for Glycogen Storage Disease Ib

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Diseases in the Glycogen Storage Disease family:

Glycogen Storage Disease Iiia Glycogen Storage Disease Iv
Glycogen Storage Disease Xv Glycogen Storage Disease X
glycogen storage disease ib Glycogen Storage Disease Ic
Glycogen Storage Disease Vii Glycogen Storage Disease Vi
Glycogen Storage Disease Ixc Glycogen Storage Disease Xii
Glycogen Storage Disease Xiii Glycogen Storage Disease Ia
Glycogen Storage Disease Ii Glycogen Storage Disease Ix
Glycogen Storage Disease Viii Glycogen Storage Disease Type 0

Diseases related to Glycogen Storage Disease Ib via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 39)
idRelated DiseaseScoreTop Affiliating Genes
1glycogen storage disease ia11.7
2gastrointestinal stromal tumor10.3
3systemic lupus erythematosus10.3
4neural tube defects10.3
5hepatocellular carcinoma10.3
6renal cell carcinoma10.3
7werner syndrome10.3
8aspergillosis10.3
9hemophilia b10.3
10bipolar disorder10.3
11renal oncocytoma10.3
12endocarditis10.3
13mastitis10.3
14heart disease10.3
15patent ductus arteriosus10.3
16prostatitis10.3
17congenital heart disease10.3
18ovarian cancer10.3
19turner syndrome10.3
20thyroiditis10.3
21lupus erythematosus10.3
22hemophilia10.3
23infertility10.2
24dystonia10.2
25neuroblastoma10.2
26pulmonary hypertension10.2
27bronchopulmonary dysplasia10.2
28retinal vasculitis10.2
29ossifying fibromyxoid tumor10.2
30newcastle disease10.2
31retinitis10.2
32protein c deficiency10.2
33vasculitis10.2
34glioma10.2
35tetrasomy 9p10.2
36endotheliitis10.2
37granuloma annulare9.7G6PC, SLC37A4
38glycogen storage disease ic9.6G6PC, SLC37A4
39neutropenia, severe congenital 4, autosomal recessive9.5G6PC, SLC37A4

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

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

Anatomical Context for Glycogen Storage Disease Ib

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MalaCards organs/tissues related to Glycogen Storage Disease Ib:

33
Kidney, Liver, Breast, Skeletal muscle, Lung, Skin, Endothelial

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
Soluble transferrin receptor in complicated anemia. (24525213)
2014
2
Evaluation of health-related physical fitness parameters and association analysis with depression, anxiety, and quality of life in patients with fibromyalgia. (24289723)
2013
3
The association of maternal ACE A11860G with small for gestational age babies is modulated by the environment and by fetal sex: a multicentre prospective case-control study. (23615722)
2013
4
Arginine methylation by PRMT1 regulates nuclear-cytoplasmic localization and toxicity of FUS/TLS harbouring ALS-linked mutations. (21965298)
2012
5
Retrospective study of interstitial lung disease in a tertiary care centre in India. (23008932)
2012
6
Anaplastic ganglioglioma with gliosarcoma component. (19900112)
2009
7
Celecoxib toxicity is cell cycle phase specific. (17440094)
2007
8
Investigating the human immunodeficiency virus type 1-infected monocyte-derived macrophage secretome. (17320137)
2007
9
High eosinophil cationic protein level in asthmatic patients with "heat" Zheng. (12856866)
2003
10
Induction of cytochrome P450 1B1 in MDA-MB-231 human breast cancer cells by non-ortho-substituted polychlorinated biphenyls. (12423652)
2002
11
Subtype-specific assembly of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionic acid receptor subunits is mediated by their n-terminal domains. (10358037)
1999
12
Contribution of endothelial selectins and alpha 4 integrins to eosinophil trafficking in allergic and nonallergic inflammatory reactions in skin. (9725251)
1998
13
Three alternatively spliced mouse slow skeletal muscle troponin T isoforms: conserved primary structure and regulated expression during postnatal development. (9651500)
1998
14
Inverse correlation between expression of HLA-B and c-myc in uveal melanoma. (9072006)
1997
15
The rel gene and its role in oncogenesis. (2103511)
1990

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 34)
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 pathogenicrs786204477GRCh38Chr 11, 119026017: 119026028
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.724C> T (p.Gln242Ter)single nucleotide variantPathogenicrs80356485GRCh37Chr 17, 41063093: 41063093
12G6PCNM_000151.3(G6PC): c.79delC (p.Gln27Argfs)deletionPathogenicrs80356479GRCh37Chr 17, 41052972: 41052972
13G6PCNM_000151.3(G6PC): c.809G> T (p.Gly270Val)single nucleotide variantPathogenicrs80356483GRCh37Chr 17, 41063178: 41063178
14G6PCNM_000151.3(G6PC): c.979_981delTTC (p.Phe327del)deletionPathogenicrs80356486GRCh37Chr 17, 41063348: 41063350
15SLC37A4NM_001164277.1(SLC37A4): c.1099G> A (p.Ala367Thr)single nucleotide variantPathogenicrs80356492GRCh37Chr 11, 118895925: 118895925
16G6PCNM_000151.3(G6PC): c.248G> A (p.Arg83His)single nucleotide variantPathogenicrs1801176GRCh37Chr 17, 41055965: 41055965
17SLC37A4NM_001164277.1(SLC37A4): c.572C> T (p.Pro191Leu)single nucleotide variantLikely pathogenicrs193302888GRCh37Chr 11, 118898391: 118898391
18SLC37A4NM_001164277.1(SLC37A4): c.70T> C (p.Tyr24His)single nucleotide variantLikely pathogenicrs193302887GRCh37Chr 11, 118900010: 118900010
19SLC37A4NM_001164277.1(SLC37A4): c.833T> A (p.Ile278Asn)single nucleotide variantLikely pathogenicrs193302900GRCh37Chr 11, 118897350: 118897350
20SLC37A4NM_001164277.1(SLC37A4): c.1015G> T (p.Gly339Cys)single nucleotide variantPathogenicrs80356490GRCh37Chr 11, 118896009: 118896009
21SLC37A4NM_001164277.1(SLC37A4): c.1063G> T (p.Glu355Ter)single nucleotide variantPathogenicrs121908975GRCh37Chr 11, 118895961: 118895961
22SLC37A4NM_001164277.1(SLC37A4): c.352T> C (p.Trp118Arg)single nucleotide variantPathogenicrs80356489GRCh37Chr 11, 118898933: 118898933
23SLC37A4SLC37A4, 4-BP DEL, 2-BP INS, NT1094indelPathogenic
24SLC37A4SLC37A4, 170-BP DEL, NT148deletionPathogenic
25SLC37A4NM_001467.5(SLC37A4): c.1042_1043delCT (p.Leu348Valfs)deletionPathogenicrs80356491GRCh37Chr 11, 118895981: 118895982
26SLC37A4NM_001164277.1(SLC37A4): c.287G> A (p.Trp96Ter)single nucleotide variantLikely pathogenic, Pathogenicrs121908976GRCh37Chr 11, 118898998: 118898998
27SLC37A4SLC37A4, 12-BP INS, NT1103insertionPathogenic
28SLC37A4NM_001164277.1(SLC37A4): c.703_705delGTG (p.Val236del)deletionPathogenicrs121908977GRCh37Chr 11, 118897726: 118897728
29SLC37A4SLC37A4, IVS7, G-T, +1single nucleotide variantPathogenic
30SLC37A4SLC37A4, IVS1, G-A, +1single nucleotide variantPathogenic
31SLC37A4NM_001164277.1(SLC37A4): c.83G> A (p.Arg28His)single nucleotide variantPathogenicrs121908978GRCh37Chr 11, 118899997: 118899997
32SLC37A4NM_001164277.1(SLC37A4): c.1243C> T (p.Arg415Ter)single nucleotide variantPathogenicrs121908979GRCh37Chr 11, 118895667: 118895667
33SLC37A4NM_001164277.1(SLC37A4): c.1016G> A (p.Gly339Asp)single nucleotide variantPathogenicrs121908980GRCh37Chr 11, 118896008: 118896008
34SLC37A4SLC37A4, 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.

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
1integral component of endoplasmic reticulum membraneGO:00301769.1G6PC, SLC37A4

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

idNameGO IDScoreTop Affiliating Genes
1glucose transportGO:00157589.5G6PC, SLC37A4
2glucose-6-phosphate transportGO:00157609.5G6PC, SLC37A4
3triglyceride metabolic processGO:00066419.4G6PC, SLC37A4
4steroid metabolic processGO:00082029.1G6PC, SLC37A4
5transmembrane transportGO:00550859.0G6PC, 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