GSDIB
MCID: GLY111
MIFTS: 26

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 58
Glycogenosis Due to Glucose-6-Phosphatase Transport Defect Type Ib 58
Glycogenosis Due to Glucose-6-Phosphatase Deficiency Type 1b 58
Glycogen Storage Disease Due to G6p Deficiency Type Ib 58
Gsd Due to G6p Deficiency Type 1b 58
Gsd Due to G6p Deficiency Type Ib 58
Glycogen Storage Disease Type 1b 58
Glycogen Storage Disease Type Ib 58
G6p Translocase Deficiency 58
Gsd Due to G6pt Deficiency 58
G6p Deficiency Type Ib 58
Glycogenosis Type 1b 58
Glycogenosis Type Ib 58
Gsd Type 1 Non a 58
G6pt Deficiency 58
Gsd Type 1b 58
Gsd Type Ib 58
Gsdib 58

Characteristics:

Orphanet epidemiological data:

58

Classifications:

Orphanet: 58  
Rare hepatic diseases
Rare renal diseases
Inborn errors of metabolism
Rare immunological diseases


External Ids:

ICD10 via Orphanet 33 E74.0
UMLS via Orphanet 72 C0268146
Orphanet 58 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). The drugs Empagliflozin and Sodium-Glucose Transporter 2 Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include liver, monocytes and neutrophil.

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 77)
# 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 inherited metabolic disorder 10.5
9 bacterial infectious disease 10.5
10 glycogen storage disease due to glucose-6-phosphatase deficiency 10.5
11 autosomal recessive disease 10.4
12 hepatocellular adenoma 10.4
13 adenoma 10.4
14 splenomegaly 10.4
15 enterocolitis 10.3
16 hyperuricemia 10.3
17 dental caries 10.3
18 abdominal obesity-metabolic syndrome 1 10.3
19 glucose intolerance 10.3
20 lactic acidosis 10.3
21 periodontitis 10.2
22 hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 10.1
23 myasthenia gravis 10.1
24 ocular motor apraxia 10.1
25 retinitis pigmentosa 10.1
26 rheumatic fever-related antigen 10.1
27 yemenite deaf-blind hypopigmentation syndrome 10.1
28 neutrophilic dermatosis, acute febrile 10.1
29 fatty liver disease, nonalcoholic 1 10.1
30 carbonic anhydrase va deficiency, hyperammonemia due to 10.1
31 deficiency anemia 10.1
32 severe congenital neutropenia 10.1
33 ptosis 10.1
34 neuroretinitis 10.1
35 microphthalmia 10.1
36 iron deficiency anemia 10.1
37 pancytopenia 10.1
38 von willebrand's disease 10.1
39 acute cystitis 10.1
40 optic disk drusen 10.1
41 rheumatic fever 10.1
42 iron metabolism disease 10.1
43 kluver-bucy syndrome 10.1
44 gingivitis 10.1
45 retinitis 10.1
46 ovarian cyst 10.1
47 epulis 10.1
48 amyloidosis 10.1
49 ornithinemia 10.1
50 dysphagia 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...

Drugs for Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency Type Ib (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Empagliflozin Approved Phase 2 864070-44-0
2 Sodium-Glucose Transporter 2 Inhibitors Phase 2
3 Hypoglycemic Agents Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Evaluation of the Safety and Efficacy of Empagliflozin Administration as a Treatment for Neutropenia in Patients With Glycogenosis Type 1b and G6PC3 Deficiency Recruiting NCT04138251 Phase 2 Empagliflozin
2 Endogenous Glucose Production in Patients With Glycogen Storage Disease Type Ia Estimated by a Single Oral Dose of Stable Isotopes: an Investigator-initiated Human Pilot Study Not yet recruiting NCT04311307 Phase 1, Phase 2
3 Glycogen Storage Disease Type Ia and Inflammatory Bowel Disease: A New Comorbidity or Secondary Consequence Completed NCT01854242
4 Biomarker for Glycogen Storage Diseases - AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL Active, not 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:

40
Liver, Monocytes, Neutrophil

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 27)
# Title Authors PMID Year
1
Glycogen Storage Disease Type I 6 61
20301489 2006
2
The putative glucose 6-phosphate translocase gene is mutated in essentially all cases of glycogen storage disease type I non-a. 6 61
10482962 1999
3
Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics. 6
25356975 2014
4
Glycogen storage disease type Ib without neutropenia. 6
10931421 2000
5
Glycogen storage disease type Ib: structural and mutational analysis of the microsomal glucose-6-phosphate transporter gene. 6
10482875 1999
6
Molecular diagnosis of type 1c glycogen storage disease. 6
10323254 1999
7
Inactivation of the glucose 6-phosphate transporter causes glycogen storage disease type 1b. 6
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. 6
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. 6
9675154 1998
10
Localisation of the gene for glycogen storage disease type 1c by homozygosity mapping to 11q. 6
9598717 1998
11
Sequence of a putative glucose 6-phosphate translocase, mutated in glycogen storage disease type Ib. 6
9428641 1997
12
Imbalanced cortisol concentrations in glycogen storage disease type I: evidence for a possible link between endocrine regulation and metabolic derangement. 61
32306986 2020
13
Glycemic control and complications in glycogen storage disease type I: Results from the Swiss registry. 61
30846352 2019
14
Insulin-resistance in glycogen storage disease type Ia: linking carbohydrates and mitochondria? 61
29435782 2018
15
Disturbed sphingolipid metabolism with elevated 1-deoxysphingolipids in glycogen storage disease type I - A link to metabolic control. 61
30037504 2018
16
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. 61
26219379 2015
17
Liver transplantation in glycogen storage disease type I. 61
24716823 2014
18
Establishment and directed differentiation of induced pluripotent stem cells from glycogen storage disease type Ib patient. 61
24581426 2013
19
[Gene mutations and clinical manifestations in children with glycogen storage disease type Ib]. 61
23965881 2013
20
Glucose-6-phosphatase deficiency. 61
21599942 2011
21
[Mutation in the SLC37A4 gene of glycogen storage disease type Ib in 15 families of the mainland of China]. 61
21575371 2011
22
Respiratory distress and sudden death of a patient with GSDIb chronic neutropenia: possible role of pegfilgrastim. 61
19644144 2009
23
Use of modified cornstarch therapy to extend fasting in glycogen storage disease types Ia and Ib. 61
18996862 2008
24
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. 61
15642668 2005
25
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. 61
14971792 2003
26
Liver transplantation for glycogen storage disease types I, III, and IV. 61
10603098 1999
27
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. 61
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 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SLC37A4 SLC37A4, 170-BP DEL, NT148deletion Pathogenic 6925
2 SLC37A4 SLC37A4, IVS8, 4-BP DELdeletion Pathogenic 6927
3 SLC37A4 SLC37A4, 12-BP INS, NT1103insertion Pathogenic 6929
4 SLC37A4 NM_001164277.1(SLC37A4):c.1042_1043del (p.Leu348fs)deletion Pathogenic/Likely pathogenic 6926 rs80356491 11:118895981-118895982 11:119025271-119025272
5 SLC37A4 NM_001164277.1(SLC37A4):c.963_964del (p.Val322fs)deletion Likely pathogenic 800776 11:118896697-118896698 11:119025987-119025988
6 SLC37A4 NM_001164277.1(SLC37A4):c.497G>A (p.Arg166His)SNV Conflicting interpretations of pathogenicity 215178 rs186476316 11:118898467-118898467 11:119027757-119027757
7 SLC37A4 NM_001164277.1(SLC37A4):c.287G>A (p.Trp96Ter)SNV Conflicting interpretations of pathogenicity 6928 rs121908976 11:118898998-118898998 11:119028288-119028288
8 SLC37A4 NM_001164277.1(SLC37A4):c.496C>T (p.Arg166Cys)SNV Uncertain significance 827988 11:118898468-118898468 11:119027758-119027758

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...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
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18 ExPASy
19 FMA
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31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
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37 LifeMap
39 LOVD
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43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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