GSDIB
MCID: GLY111
MIFTS: 30

Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency Type Ib (GSDIB)

Categories: Blood diseases, Liver diseases, Metabolic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency...

MalaCards integrated aliases for Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency Type Ib:

Name: Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency Type Ib 59
Glycogenosis Due to Glucose-6-Phosphatase Transport Defect Type Ib 59
Glycogenosis Due to Glucose-6-Phosphatase Deficiency Type 1b 59
Glycogen Storage Disease Due to G6p Deficiency Type Ib 59
Gsd Due to G6p Deficiency Type 1b 59
Gsd Due to G6p Deficiency Type Ib 59
Glycogen Storage Disease Type 1b 59
Glycogen Storage Disease Type Ib 59
G6p Translocase Deficiency 59
Gsd Due to G6pt Deficiency 59
G6p Deficiency Type Ib 59
Glycogenosis Type 1b 59
Glycogenosis Type Ib 59
Gsd Type 1 Non a 59
G6pt Deficiency 59
Gsd Type 1b 59
Gsd Type Ib 59
Gsdib 59

Characteristics:

Orphanet epidemiological data:

59

Classifications:



External Ids:

ICD10 via Orphanet 34 E74.0
UMLS via Orphanet 73 C0268146
Orphanet 59 ORPHA79259

Summaries for Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency...

MalaCards based summary : Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency Type Ib, also known as glycogenosis due to glucose-6-phosphatase transport defect type ib, is related to glycogen storage disease ib and glucose-6-phosphate translocase deficiency. An important gene associated with Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency Type Ib is SLC37A4 (Solute Carrier Family 37 Member 4). Affiliated tissues include liver, neutrophil and monocytes.

Related Diseases for Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency...

Diseases related to Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency Type Ib via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 78)
# Related Disease Score Top Affiliating Genes
1 glycogen storage disease ib 12.5
2 glucose-6-phosphate translocase deficiency 11.6
3 glycogen storage disease 11.0
4 neutropenia 10.8
5 hypoglycemia 10.6
6 glycogen storage disease ia 10.5
7 inflammatory bowel disease 10.5
8 bacterial infectious disease 10.5
9 glycogen storage disease due to glucose-6-phosphatase deficiency 10.5
10 inherited metabolic disorder 10.4
11 autosomal recessive disease 10.4
12 hepatocellular adenoma 10.4
13 adenoma 10.4
14 splenomegaly 10.4
15 hepatic adenomas, familial 10.3
16 enterocolitis 10.3
17 hyperuricemia 10.3
18 dental caries 10.3
19 abdominal obesity-metabolic syndrome 1 10.3
20 colitis 10.3
21 lactic acidosis 10.3
22 periodontitis 10.2
23 hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 10.1
24 myasthenia gravis 10.1
25 ocular motor apraxia 10.1
26 retinitis pigmentosa 10.1
27 rheumatic fever-related antigen 10.1
28 yemenite deaf-blind hypopigmentation syndrome 10.1
29 neutrophilic dermatosis, acute febrile 10.1
30 fatty liver disease, nonalcoholic 1 10.1
31 carbonic anhydrase va deficiency, hyperammonemia due to 10.1
32 deficiency anemia 10.1
33 severe congenital neutropenia 10.1
34 ptosis 10.1
35 neuroretinitis 10.1
36 microphthalmia 10.1
37 iron deficiency anemia 10.1
38 pancytopenia 10.1
39 von willebrand's disease 10.1
40 acute cystitis 10.1
41 optic disk drusen 10.1
42 rheumatic fever 10.1
43 iron metabolism disease 10.1
44 kluver-bucy syndrome 10.1
45 gingivitis 10.1
46 retinitis 10.1
47 ovarian cyst 10.1
48 epulis 10.1
49 amyloidosis 10.1
50 ornithinemia 10.1

Graphical network of the top 20 diseases related to Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency Type Ib:



Diseases related to Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency Type Ib

Symptoms & Phenotypes for Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency...

Drugs & Therapeutics for Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency...

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Glycogen Storage Disease Type Ia and Inflammatory Bowel Disease: A New Comorbidity or Secondary Consequence Completed NCT01854242
2 Biomarker for Glycogen Storage Diseases - AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL Recruiting NCT02385162

Search NIH Clinical Center for Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency Type Ib

Genetic Tests for Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency...

Anatomical Context for Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency...

MalaCards organs/tissues related to Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency Type Ib:

41
Liver, Neutrophil, Monocytes

Publications for Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency...

Articles related to Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency Type Ib:

(show all 26)
# Title Authors PMID Year
1
Glycogen Storage Disease Type I 38 71
20301489 2006
2
The putative glucose 6-phosphate translocase gene is mutated in essentially all cases of glycogen storage disease type I non-a. 38 71
10482962 1999
3
Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics. 71
25356975 2014
4
Glycogen storage disease type Ib without neutropenia. 71
10931421 2000
5
Glycogen storage disease type Ib: structural and mutational analysis of the microsomal glucose-6-phosphate transporter gene. 71
10482875 1999
6
Molecular diagnosis of type 1c glycogen storage disease. 71
10323254 1999
7
Inactivation of the glucose 6-phosphate transporter causes glycogen storage disease type 1b. 71
10026167 1999
8
A gene on chromosome 11q23 coding for a putative glucose- 6-phosphate translocase is mutated in glycogen-storage disease types Ib and Ic. 71
9758626 1998
9
Molecular analysis of glycogen storage disease type Ib: identification of a prevalent mutation among Japanese patients and assignment of a putative glucose-6-phosphate translocase gene to chromosome 11. 71
9675154 1998
10
Localisation of the gene for glycogen storage disease type 1c by homozygosity mapping to 11q. 71
9598717 1998
11
Sequence of a putative glucose 6-phosphate translocase, mutated in glycogen storage disease type Ib. 71
9428641 1997
12
Glycemic control and complications in glycogen storage disease type I: Results from the Swiss registry. 38
30846352 2019
13
Insulin-resistance in glycogen storage disease type Ia: linking carbohydrates and mitochondria? 38
29435782 2018
14
Disturbed sphingolipid metabolism with elevated 1-deoxysphingolipids in glycogen storage disease type I - A link to metabolic control. 38
30037504 2018
15
Glycogen storage disease type Ia (GSDIa) but not Glycogen storage disease type Ib (GSDIb) is associated to an increased risk of metabolic syndrome: possible role of microsomal glucose 6-phosphate accumulation. 38
26219379 2015
16
Liver transplantation in glycogen storage disease type I. 38
24716823 2014
17
Establishment and directed differentiation of induced pluripotent stem cells from glycogen storage disease type Ib patient. 38
24581426 2013
18
[Gene mutations and clinical manifestations in children with glycogen storage disease type Ib]. 38
23965881 2013
19
Glucose-6-phosphatase deficiency. 38
21599942 2011
20
[Mutation in the SLC37A4 gene of glycogen storage disease type Ib in 15 families of the mainland of China]. 38
21575371 2011
21
Respiratory distress and sudden death of a patient with GSDIb chronic neutropenia: possible role of pegfilgrastim. 38
19644144 2009
22
Use of modified cornstarch therapy to extend fasting in glycogen storage disease types Ia and Ib. 38
18996862 2008
23
Analysis of risk factors for myelodysplasias, leukemias and death from infection among patients with congenital neutropenia. Experience of the French Severe Chronic Neutropenia Study Group. 38
15642668 2005
24
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. 38
14971792 2003
25
Liver transplantation for glycogen storage disease types I, III, and IV. 38
10603098 1999
26
NADPH oxidase activity and chemotaxis by neutrophils in two patients with glycogen storage disease type Ib treated with recombinant human granulocyte-monocyte colony-stimulating factor. 38
8641644 1996

Variations for Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency...

ClinVar genetic disease variations for Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency Type Ib:

6 (show top 50) (show all 415)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 SLC37A4 NM_001164277.1(SLC37A4): c.110C> A (p.Ser37Ter) single nucleotide variant Pathogenic rs1444468055 11:118899970-118899970 11:119029260-119029260
2 SLC37A4 NM_001164277.1(SLC37A4): c.345dup (p.Leu116fs) duplication Pathogenic rs782604758 11:118898940-118898940 11:119028230-119028230
3 SLC37A4 NM_001164277.1(SLC37A4): c.1015G> T (p.Gly339Cys) single nucleotide variant Pathogenic rs80356490 11:118896009-118896009 11:119025299-119025299
4 SLC37A4 NM_001164277.1(SLC37A4): c.1063G> T (p.Glu355Ter) single nucleotide variant Pathogenic rs121908975 11:118895961-118895961 11:119025251-119025251
5 SLC37A4 NM_001164277.1(SLC37A4): c.352T> C (p.Trp118Arg) single nucleotide variant Pathogenic rs80356489 11:118898933-118898933 11:119028223-119028223
6 SLC37A4 SLC37A4, 4-BP DEL, 2-BP INS, NT1094 indel Pathogenic
7 SLC37A4 SLC37A4, 170-BP DEL, NT148 deletion Pathogenic
8 SLC37A4 SLC37A4, 12-BP INS, NT1103 insertion Pathogenic
9 SLC37A4 NM_001164277.1(SLC37A4): c.703_705GTG[1] (p.Val236del) short repeat Pathogenic rs121908977 11:118897726-118897728 11:119027016-119027018
10 SLC37A4 SLC37A4, IVS7, G-T, +1 single nucleotide variant Pathogenic
11 SLC37A4 SLC37A4, IVS1, G-A, +1 single nucleotide variant Pathogenic
12 SLC37A4 NM_001164277.1(SLC37A4): c.1243C> T (p.Arg415Ter) single nucleotide variant Pathogenic rs121908979 11:118895667-118895667 11:119024957-119024957
13 SLC37A4 NM_001164277.1(SLC37A4): c.1016G> A (p.Gly339Asp) single nucleotide variant Pathogenic rs121908980 11:118896008-118896008 11:119025298-119025298
14 SLC37A4 SLC37A4, 794G-A single nucleotide variant Pathogenic
15 SLC37A4 NM_001164277.1(SLC37A4): c.82C> T (p.Arg28Cys) single nucleotide variant Pathogenic rs193302882 11:118899998-118899998 11:119029288-119029288
16 SLC37A4 NM_001164277.1(SLC37A4): c.1124+1G> C single nucleotide variant Pathogenic 11:118895900-118895900 11:119025190-119025190
17 SLC37A4 NM_001164277.1(SLC37A4): c.936dup (p.Val313fs) duplication Pathogenic 11:118896725-118896725 11:119026015-119026015
18 SLC37A4 NM_001164277.1(SLC37A4): c.796_797del (p.Met266fs) deletion Pathogenic 11:118897386-118897387 11:119026676-119026677
19 SLC37A4 NM_001164277.1(SLC37A4): c.460del (p.Ile154fs) deletion Pathogenic 11:118898504-118898504 11:119027794-119027794
20 SLC37A4 NM_001164277.1(SLC37A4): c.169_175del (p.Ser57fs) deletion Pathogenic 11:118899110-118899116 11:119028403-119028409
21 SLC37A4 NM_001164277.1(SLC37A4): c.170C> A (p.Ser57Ter) single nucleotide variant Pathogenic 11:118899115-118899115 11:119028405-119028405
22 SLC37A4 NC_000011.9: g.(?_118898884)_(118900099_?)del deletion Pathogenic 11:118898884-118900099 11:119028174-119029389
23 SLC37A4 NM_001164277.1(SLC37A4): c.381+1G> T single nucleotide variant Pathogenic 11:118898903-118898903 11:119028193-119028193
24 SLC37A4 NM_001164277.1(SLC37A4): c.59G> A (p.Gly20Asp) single nucleotide variant Pathogenic/Likely pathogenic rs193302881 11:118900021-118900021 11:119029311-119029311
25 SLC37A4 NM_001164277.1(SLC37A4): c.742C> T (p.Gln248Ter) single nucleotide variant Pathogenic/Likely pathogenic rs781784543 11:118897689-118897689 11:119026979-119026979
26 SLC37A4 NM_001164277.1(SLC37A4): c.83G> A (p.Arg28His) single nucleotide variant Pathogenic/Likely pathogenic rs121908978 11:118899997-118899997 11:119029287-119029287
27 SLC37A4 NM_001164277.1(SLC37A4): c.1042_1043del (p.Leu348fs) deletion Pathogenic/Likely pathogenic rs80356491 11:118895981-118895982 11:119025271-119025272
28 SLC37A4 NM_001164277.1(SLC37A4): c.74_77del (p.Tyr25fs) deletion Pathogenic/Likely pathogenic rs1447366650 11:118900002-118900006 11:119029293-119029296
29 SLC37A4 NM_001164277.1(SLC37A4): c.652C> T (p.Gln218Ter) single nucleotide variant Likely pathogenic rs551439289 11:118897779-118897779 11:119027069-119027069
30 SLC37A4 NM_001164277.1(SLC37A4): c.381+1G> A single nucleotide variant Likely pathogenic rs786204637 11:118898903-118898903 11:119028193-119028193
31 SLC37A4 NM_001164277.1(SLC37A4): c.1A> G (p.Met1Val) single nucleotide variant Likely pathogenic rs786204740 11:118900079-118900079 11:119029369-119029369
32 SLC37A4 NM_001164277.1(SLC37A4): c.70T> C (p.Tyr24His) single nucleotide variant Likely pathogenic rs193302887 11:118900010-118900010 11:119029300-119029300
33 SLC37A4 NM_001164277.1(SLC37A4): c.833T> A (p.Ile278Asn) single nucleotide variant Likely pathogenic rs193302900 11:118897350-118897350 11:119026640-119026640
34 SLC37A4 NM_001164277.1(SLC37A4): c.448G> A (p.Gly150Arg) single nucleotide variant Likely pathogenic rs193302883 11:118898516-118898516 11:119027806-119027806
35 SLC37A4 NM_001164277.1(SLC37A4): c.572C> T (p.Pro191Leu) single nucleotide variant Likely pathogenic rs193302888 11:118898391-118898391 11:119027681-119027681
36 SLC37A4 NM_001164277.1(SLC37A4): c.785+2T> G single nucleotide variant Likely pathogenic 11:118897645-118897645 11:119026935-119026935
37 SLC37A4 NM_001164277.1(SLC37A4): c.923_934dup (p.Met308_Met311dup) duplication Likely pathogenic rs786204477 11:118896727-118896738 11:119026017-119026028
38 SLC37A4 NM_001164277.1(SLC37A4): c.359dup (p.Cys121fs) duplication Likely pathogenic 11:118898926-118898926 11:119028220-119028220
39 SLC37A4 NM_001164277.1(SLC37A4): c.1124+2dup duplication Likely pathogenic 11:118895899-118895899 11:119025189-119025189
40 SLC37A4 NM_001164277.1(SLC37A4): c.381+2T> G single nucleotide variant Likely pathogenic 11:118898902-118898902 11:119028192-119028192
41 SLC37A4 NM_001164277.1(SLC37A4): c.838G> C (p.Ala280Pro) single nucleotide variant Likely pathogenic rs1555190969 11:118897345-118897345 11:119026635-119026635
42 SLC37A4 NM_001164277.1(SLC37A4): c.148+2T> C single nucleotide variant Likely pathogenic rs1449998297 11:118899930-118899930 11:119029220-119029220
43 SLC37A4 NM_001164277.1(SLC37A4): c.595del (p.Leu199fs) deletion Likely pathogenic rs1474282972 11:118898367-118898368 11:119027658-119027658
44 SLC37A4 NM_001164277.1(SLC37A4): c.872-2A> C single nucleotide variant Likely pathogenic rs920196110 11:118896792-118896792 11:119026082-119026082
45 SLC37A4 NM_001164277.1(SLC37A4): c.1125-1G> A single nucleotide variant Likely pathogenic rs782202675 11:118895787-118895787 11:119025077-119025077
46 SLC37A4 NM_001164277.1(SLC37A4): c.986-3_989del deletion Likely pathogenic rs1555190559 11:118896035-118896042 11:119025326-119025332
47 SLC37A4 NM_001164277.1(SLC37A4): c.845_848del (p.Tyr282fs) deletion Likely pathogenic rs1555190956 11:118897334-118897338 11:119026625-119026628
48 SLC37A4 NM_001164277.1(SLC37A4): c.912_913insGC (p.Leu305fs) insertion Likely pathogenic rs1555190745 11:118896748-118896748 11:119026038-119026039
49 SLC37A4 NM_001164277.1(SLC37A4): c.805del (p.Leu269fs) deletion Likely pathogenic rs1555190992 11:118897377-118897378 11:119026668-119026668
50 SLC37A4 NM_001164277.1(SLC37A4): c.676del (p.Leu226fs) deletion Likely pathogenic rs1555191105 11:118897754-118897755 11:119027045-119027045

Expression for Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency...

Search GEO for disease gene expression data for Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency Type Ib.

Pathways for Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency...

GO Terms for Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency...

Sources for Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency...

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