MCID: GLY016
MIFTS: 36

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 52 70 12
Glucose-6-Phosphate Transport Defect 48 70 27 68
Gsd Ib 24 70
Gsd1b 48 70
Glucose-6-Phosphate Translocase Defect 24
 
Glycogen Storage Disease Type 1b 48
Glycogen Storage Disease Type Ib 24
Glycogen Storage Disease 1b 70
Gsd-Ib 70
Gsdib 24

Characteristics:

HPO:

64
glycogen storage disease ib:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 232220
MedGen37 C0268146
MeSH39 D005953

Summaries for Glycogen Storage Disease Ib

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NIH Rare Diseases:48 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 proteinuria, focal segmental glomerulosclerosis and enlarged kidneys. 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:70 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:52 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 & Phenotypes for Glycogen Storage Disease Ib

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Symptoms by clinical synopsis from OMIM:

232220

Clinical features from OMIM:

232220

Human phenotypes related to Glycogen Storage Disease Ib:

 64 (show all 24)
id Description HPO Frequency HPO Source Accession
1 proteinuria64 HP:0000093
2 focal segmental glomerulosclerosis64 HP:0000097
3 enlarged kidneys64 HP:0000105
4 oral ulcer64 HP:0000155
5 doll-like facies64 HP:0000295
6 lipemia retinalis64 HP:0000660
7 nephrolithiasis64 HP:0000787
8 hypertension64 HP:0000822
9 delayed puberty64 HP:0000823
10 osteoporosis64 HP:0000939
11 xanthomatosis64 HP:0000991
12 hepatocellular carcinoma64 HP:0001402
13 protuberant abdomen64 HP:0001538
14 pancreatitis64 HP:0001733
15 neutropenia64 HP:0001875
16 hypoglycemia64 HP:0001943
17 gout64 HP:0001997
18 hepatomegaly64 HP:0002240
19 recurrent bacterial infections64 HP:0002718
20 elevated hepatic transaminases64 HP:0002910
21 hyperlipidemia64 HP:0003077
22 lactic acidosis64 HP:0003128
23 short stature64 HP:0004322
24 decreased glomerular filtration rate64 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 the Relationship Between Glycogen Storage Disease Type Ia and Inflammatory Bowel DiseaseCompletedNCT01854242
3Study of Glycogen Storage Disease Expression in CarriersCompletedNCT02057731

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 Defect27
2 Glycogen Storage Disease Type Ib24 SLC37A4

Anatomical Context for Glycogen Storage Disease Ib

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MalaCards organs/tissues related to Glycogen Storage Disease Ib:

36
Kidney, Liver, Neutrophil

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:

70 (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)SNVLikely pathogenic, Pathogenicrs781784543GRCh38Chr 11, 119026979: 119026979
2SLC37A4NM_001164277.1(SLC37A4): c.923_934dupTGGCTGGCATGA (p.Met311_Thr312insMetAlaGlyMet)duplicationLikely pathogenicrs786204477GRCh37Chr 11, 118896727: 118896738
3SLC37A4NM_001164277.1(SLC37A4): c.381+1G> ASNVLikely pathogenicrs786204637GRCh38Chr 11, 119028193: 119028193
4SLC37A4NM_001164277.1(SLC37A4): c.652C> T (p.Gln218Ter)SNVLikely pathogenicrs551439289GRCh38Chr 11, 119027069: 119027069
5SLC37A4NM_001164277.1(SLC37A4): c.1A> G (p.Met1Val)SNVLikely pathogenicrs786204740GRCh38Chr 11, 119029369: 119029369
6SLC37A4NM_001164277.1(SLC37A4): c.572C> T (p.Pro191Leu)SNVLikely pathogenicrs193302888GRCh37Chr 11, 118898391: 118898391
7SLC37A4NM_001164277.1(SLC37A4): c.70T> C (p.Tyr24His)SNVLikely pathogenicrs193302887GRCh37Chr 11, 118900010: 118900010
8SLC37A4NM_001164277.1(SLC37A4): c.833T> A (p.Ile278Asn)SNVLikely pathogenicrs193302900GRCh37Chr 11, 118897350: 118897350
9SLC37A4NM_001164277.1(SLC37A4): c.1015G> T (p.Gly339Cys)SNVPathogenicrs80356490GRCh37Chr 11, 118896009: 118896009
10SLC37A4NM_001164277.1(SLC37A4): c.1063G> T (p.Glu355Ter)SNVPathogenicrs121908975GRCh37Chr 11, 118895961: 118895961
11SLC37A4NM_001164277.1(SLC37A4): c.352T> C (p.Trp118Arg)SNVPathogenicrs80356489GRCh37Chr 11, 118898933: 118898933
12SLC37A4SLC37A4, 4-BP DEL, 2-BP INS, NT1094indelPathogenicChr na, -1: -1
13SLC37A4SLC37A4, 170-BP DEL, NT148deletionPathogenicChr na, -1: -1
14SLC37A4NM_001467.5(SLC37A4): c.1042_1043delCT (p.Leu348Valfs)deletionPathogenicrs80356491GRCh37Chr 11, 118895981: 118895982
15SLC37A4NM_001164277.1(SLC37A4): c.287G> A (p.Trp96Ter)SNVLikely pathogenic, Pathogenicrs121908976GRCh37Chr 11, 118898998: 118898998
16SLC37A4SLC37A4, 12-BP INS, NT1103insertionPathogenicChr na, -1: -1
17SLC37A4NM_001164277.1(SLC37A4): c.703_705delGTG (p.Val236del)deletionPathogenicrs121908977GRCh37Chr 11, 118897726: 118897728
18SLC37A4SLC37A4, IVS7, G-T, +1SNVPathogenicChr na, -1: -1
19SLC37A4SLC37A4, IVS1, G-A, +1SNVPathogenicChr na, -1: -1
20SLC37A4NM_001164277.1(SLC37A4): c.83G> A (p.Arg28His)SNVPathogenicrs121908978GRCh37Chr 11, 118899997: 118899997
21SLC37A4NM_001164277.1(SLC37A4): c.1243C> T (p.Arg415Ter)SNVPathogenicrs121908979GRCh37Chr 11, 118895667: 118895667
22SLC37A4NM_001164277.1(SLC37A4): c.1016G> A (p.Gly339Asp)SNVPathogenicrs121908980GRCh37Chr 11, 118896008: 118896008
23SLC37A4SLC37A4, 794G-ASNVPathogenicChr na, -1: -1

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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet