MCID: GLY016
MIFTS: 35

Glycogen Storage Disease Ib malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Liver diseases, Metabolic diseases, Cardiovascular diseases, Blood diseases, Muscle diseases, Nephrological 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 50 68 12
Glucose-6-Phosphate Transport Defect 46 68 25 66
Gsd Ib 23 68
Gsd1b 46 68
Glucose-6-Phosphate Translocase Defect 23
 
Glycogen Storage Disease Type 1b 46
Glycogen Storage Disease Type Ib 23
Glycogen Storage Disease 1b 68
Gsd-Ib 68
Gsdib 23

Characteristics:

HPO:

62
glycogen storage disease ib:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 232220
MedGen35 C0268146
MeSH37 D005953

Summaries for Glycogen Storage Disease Ib

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NIH Rare Diseases:46 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 glycogen storage disease, and has symptoms including hepatomegaly, hepatomegaly and proteinuria. An important gene associated with Glycogen Storage Disease Ib is SLC37A4 (Solute Carrier Family 37 Member 4). Affiliated tissues include kidney, liver and neutrophil.

UniProtKB/Swiss-Prot:68 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:50 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 24)
id Description Frequency HPO Source Accession
1 proteinuria HP:0000093
2 focal segmental glomerulosclerosis HP:0000097
3 enlarged kidneys HP:0000105
4 oral ulcer HP:0000155
5 doll-like facies HP:0000295
6 lipemia retinalis HP:0000660
7 nephrolithiasis HP:0000787
8 hypertension HP:0000822
9 delayed puberty HP:0000823
10 osteoporosis HP:0000939
11 xanthomatosis HP:0000991
12 hepatocellular carcinoma HP:0001402
13 protuberant abdomen HP:0001538
14 pancreatitis HP:0001733
15 neutropenia HP:0001875
16 hypoglycemia HP:0001943
17 gout HP:0001997
18 hepatomegaly HP:0002240
19 recurrent bacterial infections HP:0002718
20 elevated hepatic transaminases HP:0002910
21 hyperlipidemia HP:0003077
22 lactic acidosis HP:0003128
23 short stature HP:0004322
24 decreased glomerular filtration rate HP:0012213

UMLS symptoms related to Glycogen Storage Disease Ib:


hepatomegaly

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 Glycogen Storage Disease Expression in CarriersCompletedNCT02057731
3Study of the Relationship Between Glycogen Storage Disease Type Ia and Inflammatory Bowel DiseaseCompletedNCT01854242

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 Glucose-6-Phosphate Transport Defect25
2 Glycogen Storage Disease Type Ib23 SLC37A4

Anatomical Context for Glycogen Storage Disease Ib

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MalaCards organs/tissues related to Glycogen Storage Disease Ib:

34
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
Improved growth with growth hormone therapy in a child with glycogen storage disease Ib. (12948077)
2003
4
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
5
3-methyglutaconic aciduria in a Chinese patient with glycogen storage disease Ib. (14707520)
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:

68 (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 23)
id Gene Variation Type Significance SNP ID Assembly Location
1SLC37A4NM_001164277.1(SLC37A4): c.742C> T (p.Gln248Ter)single nucleotide variantLikely pathogenicrs781784543GRCh37Chr 11, 118897689: 118897689
2SLC37A4NM_001164277.1(SLC37A4): c.923_934dupTGGCTGGCATGA (p.Met311_Thr312insMetAlaGlyMet)duplicationLikely pathogenicrs786204477GRCh38Chr 11, 119026017: 119026028
3SLC37A4NM_001164277.1(SLC37A4): c.381+1G> Asingle nucleotide variantLikely pathogenicrs786204637GRCh38Chr 11, 119028193: 119028193
4SLC37A4NM_001164277.1(SLC37A4): c.652C> T (p.Gln218Ter)single nucleotide variantLikely pathogenicrs551439289GRCh38Chr 11, 119027069: 119027069
5SLC37A4NM_001164277.1(SLC37A4): c.1A> G (p.Met1Val)single nucleotide variantLikely pathogenicrs786204740GRCh38Chr 11, 119029369: 119029369
6SLC37A4NM_001164277.1(SLC37A4): c.572C> T (p.Pro191Leu)single nucleotide variantLikely pathogenicrs193302888GRCh37Chr 11, 118898391: 118898391
7SLC37A4NM_001164277.1(SLC37A4): c.70T> C (p.Tyr24His)single nucleotide variantLikely pathogenicrs193302887GRCh37Chr 11, 118900010: 118900010
8SLC37A4NM_001164277.1(SLC37A4): c.833T> A (p.Ile278Asn)single nucleotide variantLikely pathogenicrs193302900GRCh37Chr 11, 118897350: 118897350
9SLC37A4NM_001164277.1(SLC37A4): c.1015G> T (p.Gly339Cys)single nucleotide variantPathogenicrs80356490GRCh37Chr 11, 118896009: 118896009
10SLC37A4NM_001164277.1(SLC37A4): c.1063G> T (p.Glu355Ter)single nucleotide variantPathogenicrs121908975GRCh37Chr 11, 118895961: 118895961
11SLC37A4NM_001164277.1(SLC37A4): c.352T> C (p.Trp118Arg)single nucleotide variantPathogenicrs80356489GRCh37Chr 11, 118898933: 118898933
12SLC37A4SLC37A4, 4-BP DEL, 2-BP INS, NT1094indelPathogenic
13SLC37A4SLC37A4, 170-BP DEL, NT148deletionPathogenic
14SLC37A4NM_001467.5(SLC37A4): c.1042_1043delCT (p.Leu348Valfs)deletionPathogenicrs80356491GRCh37Chr 11, 118895981: 118895982
15SLC37A4NM_001164277.1(SLC37A4): c.287G> A (p.Trp96Ter)single nucleotide variantLikely pathogenic, Pathogenicrs121908976GRCh37Chr 11, 118898998: 118898998
16SLC37A4SLC37A4, 12-BP INS, NT1103insertionPathogenic
17SLC37A4NM_001164277.1(SLC37A4): c.703_705delGTG (p.Val236del)deletionPathogenicrs121908977GRCh37Chr 11, 118897726: 118897728
18SLC37A4SLC37A4, IVS7, G-T, +1single nucleotide variantPathogenic
19SLC37A4SLC37A4, IVS1, G-A, +1single nucleotide variantPathogenic
20SLC37A4NM_001164277.1(SLC37A4): c.83G> A (p.Arg28His)single nucleotide variantPathogenicrs121908978GRCh37Chr 11, 118899997: 118899997
21SLC37A4NM_001164277.1(SLC37A4): c.1243C> T (p.Arg415Ter)single nucleotide variantPathogenicrs121908979GRCh37Chr 11, 118895667: 118895667
22SLC37A4NM_001164277.1(SLC37A4): c.1016G> A (p.Gly339Asp)single nucleotide variantPathogenicrs121908980GRCh37Chr 11, 118896008: 118896008
23SLC37A4SLC37A4, 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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Sources for Glycogen Storage Disease Ib

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet