MCID: GLY081
MIFTS: 48

Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency

Categories: 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:

Name: Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency 58
Glycogen Storage Disease Type I 58 70
Glycogen Storage Disease Due to G6p Deficiency 58
Glycogen Storage Disease Type Ia 70
Glycogen Storage Disease Type 1 58
Gsd Due to G6p Deficiency 58
Hepatorenal Glycogenosis 58
Glycogenosis Type I 58
Glycogenosis Type 1 58
Von Gierke Disease 58
G6p Deficiency 58
Gsd Type I 58
Gsd Type 1 58

Characteristics:

Orphanet epidemiological data:

58
glycogen storage disease due to glucose-6-phosphatase deficiency
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

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


External Ids:

ICD10 via Orphanet 33 E74.0
UMLS via Orphanet 71 C0017920 C2919796
Orphanet 58 ORPHA364
UMLS 70 C0017920 C2919796

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

MalaCards based summary : Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency, also known as glycogen storage disease type i, is related to glycogen storage disease ia and hepatocellular adenoma, and has symptoms including intermittent diarrhea An important gene associated with Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency is G6PC1 (Glucose-6-Phosphatase Catalytic Subunit 1), and among its related pathways/superpathways are Metabolism and Glycosaminoglycan metabolism. The drugs Empagliflozin and Sodium-Glucose Transporter 2 Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include liver, bone marrow and neutrophil, and related phenotypes are recurrent respiratory infections and short stature

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

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

(show top 50) (show all 97)
# Related Disease Score Top Affiliating Genes
1 glycogen storage disease ia 32.0 SLC37A4 GAA G6PC1
2 hepatocellular adenoma 30.3 SLC37A4 G6PC1
3 glycogen storage disease 30.2 SLC37A4 GAA G6PC1
4 neutropenia 30.1 SLC37A4 G6PC1
5 hypoglycemia 30.0 SLC37A4 G6PC1
6 hyperuricemia 29.8 SLC37A4 G6PC1
7 glycogen storage disease iv 29.6 GAA G6PC1
8 glycogen storage disease iii 29.3 SLC37A4 GAA G6PC1
9 carbohydrate metabolic disorder 29.2 SLC37A4 GAA G6PC1
10 glycogen storage disease due to glucose-6-phosphatase deficiency type ib 11.7
11 fanconi-bickel syndrome 11.4
12 glycogen storage disease ib 11.3
13 glycogen storage disease ic 11.3
14 glycogen storage disease v 11.3
15 glycogen storage disease ixa1 11.2
16 hypertriglyceridemia, familial 10.5
17 proteinuria, chronic benign 10.5
18 lactic acidosis 10.5
19 adenoma 10.4
20 hypercholesterolemia, familial, 1 10.3
21 metabolic acidosis 10.2
22 gout 10.2
23 pulmonary hypertension 10.2
24 renal fibrosis 10.2
25 fatty liver disease, nonalcoholic 1 10.2
26 non-alcoholic fatty liver disease 10.2
27 xanthomatosis 10.1
28 gastric cancer 10.1
29 autosomal recessive disease 10.1
30 lipid metabolism disorder 10.1
31 pancreatitis 10.1
32 kidney disease 10.1
33 inherited metabolic disorder 10.1
34 hepatocellular carcinoma 10.1
35 nephrolithiasis, calcium oxalate 10.1
36 fanconi-like syndrome 10.1
37 hyper-beta-alaninemia 10.1
38 proteasome-associated autoinflammatory syndrome 1 10.1
39 pyruvate carboxylase deficiency 10.1
40 huntington disease-like 3 10.1
41 huntington disease-like 2 10.1
42 body mass index quantitative trait locus 1 10.1
43 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.1
44 carbonic anhydrase va deficiency, hyperammonemia due to 10.1
45 peripheral vascular disease 10.1
46 hypophosphatemia 10.1
47 inflammatory bowel disease 10.1
48 organic acidemia 10.1
49 polycystic kidney disease 10.1
50 bacterial infectious disease 10.1

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



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

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

Human phenotypes related to Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency:

58 31 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 recurrent respiratory infections 58 31 hallmark (90%) Very frequent (99-80%) HP:0002205
2 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
3 cognitive impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0100543
4 full cheeks 58 31 hallmark (90%) Very frequent (99-80%) HP:0000293
5 hypoglycemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001943
6 hyperuricemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002149
7 hyperlipidemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0003077
8 seizure 31 hallmark (90%) HP:0001250
9 hypotonia 31 hallmark (90%) HP:0001252
10 xanthomatosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000991
11 seizures 58 Very frequent (99-80%)
12 muscular hypotonia 58 Very frequent (99-80%)
13 recurrent infections 58 Very frequent (99-80%)

UMLS symptoms related to Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency:


intermittent diarrhea

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

Drugs for Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency (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
4 Pharmaceutical Solutions Phase 1, Phase 2

Interventional clinical trials:

(show all 13)
# Name Status NCT ID Phase Drugs
1 Endogenous Glucose Production in Subjects With Glycogen Storage Disease Type Ia Estimated by a Single Oral Dose of Stable Isotopes: an Investigator-initiated Human Pilot Study Recruiting NCT04311307 Phase 1, Phase 2
2 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
3 A Phase 1/2, Open-Label Safety and Dose-Finding Study of Adeno-Associated Virus (AAV) Serotype 8 (AAV8)-Mediated Gene Transfer of Glucose-6- Phosphatase (G6Pase) in Adults With Glycogen Storage Disease Type Ia (GSDIa) Active, not recruiting NCT03517085 Phase 1, Phase 2
4 Glycogen Storage Disease Type Ia and Inflammatory Bowel Disease: A New Comorbidity or Secondary Consequence Completed NCT01854242
5 A Comparison of Quality of Sleep and Quality of Life in Patients With Glycogen Storage Disease on Standard and Modified Uncooked Cornstarch Completed NCT02054832
6 New Approaches for Over-night Feeding in Glycogen Storage Disease Type 1 (GSD 1) Completed NCT01961076
7 Comparison of the Effect of a Novel Starch (Glycosade) Versus Gastrostomy Tube-Dextrose Infusion on Overnight Euglycaemia Control in Children With Glycogen Storage Disease Type I: Open Label Demonstration Trial Completed NCT02176096
8 Anaplerotic Therapy Using Triheptanoin for Patients With Glycogen Storage Disease Type I Recruiting NCT03665636 Early Phase 1 Triheptanoin
9 Application of Novel Techniques to Devise Nutritional Therapies in Subjects With Glycogen Storage Disease Type I Recruiting NCT03218904
10 A Novel Approach to Treatment of Hepatic Glycogen Storage Diseases: a Study Based on the Use of Uncooked Sweet Polvilho Active, not recruiting NCT03871673
11 Biomarker for Glycogen Storage Diseases - AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL Active, not recruiting NCT02385162
12 A Retrospective Observational Clinical Study on the Use of Continuous Glucose Monitoring for Glycemic Control in Adult and Pediatric Patients With Glycogen Storage Disease Type Ia (GSDIa) Enrolling by invitation NCT04708015
13 A Long-Term Follow-up Study to Evaluate the Safety and Efficacy of Adeno Associated Virus (AAV) Serotype 8 (AAV8)-Mediated Gene Transfer of Glucose-6-Phosphatase (G6Pase) in Adults With Glycogen Storage Disease Type Ia (GSDIa) Enrolling by invitation NCT03970278

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

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:

40
Liver, Bone Marrow, Neutrophil, Eye, Placenta

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

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

(show top 50) (show all 313)
# Title Authors PMID Year
1
Molecular diagnosis of glycogen storage disease type I: a review. 6 61
30956637 2019
2
Regression of hepatocellular adenomas with strict dietary therapy in patients with glycogen storage disease type I. 6 61
25308557 2015
3
Molecular characterization of hepatocellular adenomas developed in patients with glycogen storage disease type I. 6 61
23046672 2013
4
Glucose-6-phosphatase deficiency. 6 61
21599942 2011
5
Chromosomal and genetic alterations in human hepatocellular adenomas associated with type Ia glycogen storage disease. 61 6
19762333 2009
6
Emerging therapies for glycogen storage disease type I. 6 61
19541498 2009
7
Hepatocellular adenoma and metabolic balance in patients with type Ia glycogen storage disease. 6 61
18083610 2008
8
Increased prevalence of thyroid autoimmunity and hypothyroidism in patients with glycogen storage disease type I. 6 61
17307551 2007
9
Glycogen Storage Disease Type I 6 61
20301489 2006
10
Glycogen storage disease type I: diagnosis and phenotype/genotype correlation. 61 6
12373566 2002
11
Type I glycogen storage diseases: disorders of the glucose-6-phosphatase complex. 61 6
11949931 2002
12
Glycogen storage disease type Ia: recent experience with mutation analysis, a summary of mutations reported in the literature and a newly developed diagnostic flow chart. 6 61
10834516 2000
13
The putative glucose 6-phosphate translocase gene is mutated in essentially all cases of glycogen storage disease type I non-a. 61 6
10482962 1999
14
The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease. 6
32313153 2020
15
Mutation analysis of SLC37A4 in a patient with glycogen storage disease-type Ib. 6
31617422 2019
16
Glycogen storage diseases: Twenty-seven new variants in a cohort of 125 patients. 6
31508908 2019
17
Whole-exome Sequencing Helps the Diagnosis and Treatment in Children with Neurodevelopmental Delay Accompanied Unexplained Dyspnea. 6
29581464 2018
18
Late presentation of glycogen storage disease types Ia and III in children with short stature and hepatomegaly. 6
29374762 2018
19
Genetic characterization of GSD I in Serbian population revealed unexpectedly high incidence of GSD Ib and 3 novel SLC37A4 variants. 6
28685844 2018
20
A Third Case of Glycogen Storage Disease IB and Giant Cell Tumour of the Mandible: A Disease Association or Iatrogenic Complication of Therapy. 6
29119402 2018
21
Long-read sequencing identified a causal structural variant in an exome-negative case and enabled preimplantation genetic diagnosis. 6
30279644 2018
22
Clinical and biochemical heterogeneity between patients with glycogen storage disease type IA: the added value of CUSUM for metabolic control. 6
28397058 2017
23
Cataract and optic disk drusen in a patient with glycogenosis and di George syndrome: clinical and molecular report. 6
28659124 2017
24
Novel SLC37A4 Mutations in Korean Patients With Glycogen Storage Disease Ib. 6
28224773 2017
25
Molecular analysis of glycogen storage disease type Ia in Iranian Azeri Turks: identification of a novel mutation. 6
28360385 2017
26
Molecular diagnosis of glycogen storage disease and disorders with overlapping clinical symptoms by massive parallel sequencing. 6
26913919 2016
27
Molecular genetic analysis and phenotypic characteristics of a consanguineous family with glycogen storage disease type Ia. 6
27511118 2016
28
Esophageal Stricture Secondary to Candidiasis in a Child with Glycogen Storage Disease 1b. 6
27066451 2016
29
Identification of glucose-6-phosphate transporter as a key regulator functioning at the autophagy initiation step. 6
25982172 2015
30
Three novel mutations of the G6PC gene identified in Chinese patients with glycogen storage disease type Ia. 6
24980439 2015
31
Disease variants in genomes of 44 centenarians. 6
25333069 2014
32
Molecular mechanisms of neutrophil dysfunction in glycogen storage disease type Ib. 6
24565827 2014
33
Involvement of endocrine system in a patient affected by glycogen storage disease 1b: speculation on the role of autoimmunity. 6
24646511 2014
34
The SLC37 family of sugar-phosphate/phosphate exchangers. 6
24745989 2014
35
Determining mutations in G6PC and SLC37A4 genes in a sample of Brazilian patients with glycogen storage disease types Ia and Ib. 6
24385852 2013
36
Personalized genomic disease risk of volunteers. 6
24082139 2013
37
Current status of hepatic glycogen storage disease in Japan: clinical manifestations, treatments and long-term outcomes. 6
23486339 2013
38
Rapid screening of 12 common mutations in Turkish GSD 1a patients using electronic DNA microarray. 6
23352793 2013
39
Clinical application of massively parallel sequencing in the molecular diagnosis of glycogen storage diseases of genetically heterogeneous origin. 6
22899091 2013
40
A novel type heterozygous mutation in the glucose-6-phosphatase gene in a Chinese patient with glycogen storage disease Ia. 6
23000067 2012
41
Glycogen storage disease type Ia: linkage of glucose, glycogen, lactic acid, triglyceride, and uric acid metabolism. 6
23312056 2012
42
New insights into the organisation and intracellular localisation of the two subunits of glucose-6-phosphatase. 6
21983240 2012
43
Genetic analysis of inherited bone marrow failure syndromes from one prospective, comprehensive and population-based cohort and identification of novel mutations. 6
21659346 2011
44
[Mutation in the SLC37A4 gene of glycogen storage disease type Ib in 15 families of the mainland of China]. 6
21575371 2011
45
Pregnancy in glycogen storage disease type Ib: gestational care and report of first successful deliveries. 6
20386986 2010
46
Evaluation of the biotinidase activity in hepatic glycogen storage disease patients. Undescribed genetic finding associated with atypical enzymatic behavior: an outlook. 6
20532819 2010
47
Rapid detection of glycogen storage disease type Ia by DNA microarray. 6
20509832 2010
48
Development of genomic DNA reference materials for genetic testing of disorders common in people of ashkenazi jewish descent. 6
19815695 2009
49
Glycogen storage disease type 1b: Mild phenotype associated with a novel splice site mutation. 6
19454374 2009
50
Functional analysis of mutations in the glucose-6-phosphate transporter that cause glycogen storage disease type Ib. 6
18835800 2008

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:

6 (show top 50) (show all 733)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SLC37A4 SLC37A4, IVS8, 4-BP DEL Deletion Pathogenic 6927 GRCh37:
GRCh38:
2 SLC37A4 SLC37A4, 4-BP DEL, 2-BP INS, NT1094 Indel Pathogenic 6924 GRCh37:
GRCh38:
3 SLC37A4 SLC37A4, 170-BP DEL, NT148 Deletion Pathogenic 6925 GRCh37:
GRCh38:
4 SLC37A4 SLC37A4, 170-BP DEL, NT148 Deletion Pathogenic 6925 GRCh37:
GRCh38:
5 SLC37A4 SLC37A4, 12-BP INS, NT1103 Insertion Pathogenic 6929 GRCh37:
GRCh38:
6 SLC37A4 SLC37A4, 12-BP INS, NT1103 Insertion Pathogenic 6929 GRCh37:
GRCh38:
7 SLC37A4 NM_001164277.1(SLC37A4):c.1016G>A (p.Gly339Asp) SNV Pathogenic 6935 rs121908980 GRCh37: 11:118896008-118896008
GRCh38: 11:119025298-119025298
8 SLC37A4 SLC37A4, 794G-A SNV Pathogenic 6936 GRCh37:
GRCh38:
9 SLC37A4 SLC37A4, IVS7, G-T, +1 SNV Pathogenic 6931 GRCh37:
GRCh38:
10 SLC37A4 SLC37A4, IVS1, G-A, +1 SNV Pathogenic 6932 GRCh37:
GRCh38:
11 SLC37A4 NM_001164277.1(SLC37A4):c.82C>T (p.Arg28Cys) SNV Pathogenic 68291 rs193302882 GRCh37: 11:118899998-118899998
GRCh38: 11:119029288-119029288
12 SLC37A4 NM_001164277.1(SLC37A4):c.345dup (p.Leu116fs) Duplication Pathogenic 529223 rs782604758 GRCh37: 11:118898939-118898940
GRCh38: 11:119028229-119028230
13 SLC37A4 NM_001164277.1(SLC37A4):c.1123+1G>C SNV Pathogenic 583102 rs782630676 GRCh37: 11:118895900-118895900
GRCh38: 11:119025190-119025190
14 SLC37A4 NM_001164277.1(SLC37A4):c.170C>A (p.Ser57Ter) SNV Pathogenic 654273 rs374848317 GRCh37: 11:118899115-118899115
GRCh38: 11:119028405-119028405
15 SLC37A4 NC_000011.10:g.(?_119028174)_(119029389_?)del Deletion Pathogenic 666221 GRCh37: 11:118898884-118900099
GRCh38: 11:119028174-119029389
16 SLC37A4 NM_001467.6(SLC37A4):c.460del (p.Ile154fs) Deletion Pathogenic 662747 rs769726248 GRCh37: 11:118898504-118898504
GRCh38: 11:119027794-119027794
17 SLC37A4 NM_001164277.1(SLC37A4):c.796_797del (p.Met266fs) Deletion Pathogenic 648054 rs1592111172 GRCh37: 11:118897386-118897387
GRCh38: 11:119026676-119026677
18 SLC37A4 NC_000011.10:g.(?_119024900)_(119029379_?)del Deletion Pathogenic 832011 GRCh37: 11:118895610-118900089
GRCh38:
19 SLC37A4 NM_001164277.1(SLC37A4):c.59dup (p.Tyr21fs) Duplication Pathogenic 835295 GRCh37: 11:118900020-118900021
GRCh38: 11:119029310-119029311
20 SLC37A4 NM_001164277.1(SLC37A4):c.675C>A (p.Tyr225Ter) SNV Pathogenic 841551 GRCh37: 11:118897756-118897756
GRCh38: 11:119027046-119027046
21 SLC37A4 NM_001164277.1(SLC37A4):c.927del (p.Gly310fs) Deletion Pathogenic 846755 GRCh37: 11:118896734-118896734
GRCh38: 11:119026024-119026024
22 SLC37A4 NM_001164277.1(SLC37A4):c.495G>A (p.Trp165Ter) SNV Pathogenic 861962 GRCh37: 11:118898469-118898469
GRCh38: 11:119027759-119027759
23 SLC37A4 NM_001164278.2(SLC37A4):c.1309C>T (p.Arg437Ter) SNV Pathogenic 6934 rs121908979 GRCh37: 11:118895667-118895667
GRCh38: 11:119024957-119024957
24 SLC37A4 NM_001164277.1(SLC37A4):c.958del (p.Arg319_Val320insTer) Deletion Pathogenic 963100 GRCh37: 11:118896703-118896703
GRCh38: 11:119025993-119025993
25 SLC37A4 NM_001164277.1(SLC37A4):c.929del (p.Gly310fs) Deletion Pathogenic 971803 GRCh37: 11:118896732-118896732
GRCh38: 11:119026022-119026022
26 SLC37A4 NM_001467.6(SLC37A4):c.985+1G>A SNV Pathogenic 992984 GRCh37: 11:118896676-118896676
GRCh38: 11:119025966-119025966
27 SLC37A4 NM_001164277.1(SLC37A4):c.110C>A (p.Ser37Ter) SNV Pathogenic 488601 rs1444468055 GRCh37: 11:118899970-118899970
GRCh38: 11:119029260-119029260
28 SLC37A4 NM_001164277.1(SLC37A4):c.529_533del Deletion Pathogenic 953966 GRCh37:
GRCh38:
29 SLC37A4 NM_001164277.1(SLC37A4):c.1179G>A (p.Trp393Ter) SNV Pathogenic 928687 GRCh37: 11:118895731-118895731
GRCh38: 11:119025021-119025021
30 SLC37A4 NM_001164277.1(SLC37A4):c.446G>A (p.Gly149Glu) SNV Pathogenic 68280 rs193302892 GRCh37: 11:118898518-118898518
GRCh38: 11:119027808-119027808
31 SLC37A4 NM_001467.6(SLC37A4):c.148+1G>T SNV Pathogenic 981113 GRCh37: 11:118899931-118899931
GRCh38: 11:119029221-119029221
32 SLC37A4 NM_001164277.1(SLC37A4):c.217C>T (p.Gln73Ter) SNV Pathogenic 917662 GRCh37: 11:118899068-118899068
GRCh38: 11:119028358-119028358
33 SLC37A4 NM_001164277.1(SLC37A4):c.287G>A (p.Trp96Ter) SNV Pathogenic 6928 rs121908976 GRCh37: 11:118898998-118898998
GRCh38: 11:119028288-119028288
34 SLC37A4 NM_001164278.2(SLC37A4):c.81T>A (p.Asn27Lys) SNV Pathogenic 68290 rs193302889 GRCh37: 11:118899999-118899999
GRCh38: 11:119029289-119029289
35 SLC37A4 NM_001164278.2(SLC37A4):c.169_175del (p.Ser57fs) Deletion Pathogenic 651195 rs782501672 GRCh37: 11:118899110-118899116
GRCh38: 11:119028400-119028406
36 SLC37A4 NM_001164278.2(SLC37A4):c.936dup (p.Val313fs) Duplication Pathogenic 651791 rs782172072 GRCh37: 11:118896724-118896725
GRCh38: 11:119026014-119026015
37 SLC37A4 NM_001164277.1(SLC37A4):c.1063G>T (p.Glu355Ter) SNV Pathogenic 6922 rs121908975 GRCh37: 11:118895961-118895961
GRCh38: 11:119025251-119025251
38 SLC37A4 NM_001164277.2(SLC37A4):c.945_964del Deletion Pathogenic 997959 GRCh37: 11:118896697-118896716
GRCh38: 11:119025987-119026006
39 G6PC1 NM_000151.4(G6PC1):c.377_378TA[3] (p.Tyr128fs) Microsatellite Pathogenic 11997 rs80356488 GRCh37: 17:41059575-41059576
GRCh38: 17:42907558-42907559
40 G6PC1 NM_000151.4(G6PC1):c.230+4A>G SNV Pathogenic 12002 rs587776757 GRCh37: 17:41053127-41053127
GRCh38: 17:42901110-42901110
41 G6PC1 NM_000151.4(G6PC1):c.113A>T (p.Asp38Val) SNV Pathogenic 12004 rs104894565 GRCh37: 17:41053006-41053006
GRCh38: 17:42900989-42900989
42 G6PC1 NM_000151.4(G6PC1):c.551G>A (p.Gly184Glu) SNV Pathogenic 12007 rs104894569 GRCh37: 17:41061424-41061424
GRCh38: 17:42909407-42909407
43 G6PC1 NM_000151.4(G6PC1):c.1022T>A (p.Ile341Asn) SNV Pathogenic 12009 rs387906505 GRCh37: 17:41063391-41063391
GRCh38: 17:42911374-42911374
44 G6PC1 NM_000151.4(G6PC1):c.497T>G (p.Val166Gly) SNV Pathogenic 12010 rs104894571 GRCh37: 17:41061370-41061370
GRCh38: 17:42909353-42909353
45 G6PC1 NM_000151.4(G6PC1):c.79del (p.Gln27fs) Deletion Pathogenic 21062 rs80356479 GRCh37: 17:41052970-41052970
GRCh38: 17:42900953-42900953
46 G6PC1 NM_000151.4(G6PC1):c.551G>T (p.Gly184Val) SNV Pathogenic 374125 rs104894569 GRCh37: 17:41061424-41061424
GRCh38: 17:42909407-42909407
47 G6PC1 NM_000151.4(G6PC1):c.562G>A (p.Gly188Ser) SNV Pathogenic 214465 rs80356482 GRCh37: 17:41061435-41061435
GRCh38: 17:42909418-42909418
48 G6PC1 NM_000151.4(G6PC1):c.508C>T (p.Arg170Ter) SNV Pathogenic 522204 rs373345919 GRCh37: 17:41061381-41061381
GRCh38: 17:42909364-42909364
49 G6PC1 NM_000151.4(G6PC1):c.388_400del (p.Met130fs) Deletion Pathogenic 560550 rs1567705064 GRCh37: 17:41059587-41059599
GRCh38: 17:42907570-42907582
50 G6PC1 NM_000151.4(G6PC1):c.518T>C (p.Leu173Pro) SNV Pathogenic 640818 rs775826449 GRCh37: 17:41061391-41061391
GRCh38: 17:42909374-42909374

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.

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

Pathways related to Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.32 SLC37A4 MMAB GAA G6PC1
2
Show member pathways
12.08 SLC37A4 GAA G6PC1
3
Show member pathways
11.43 SLC37A4 GAA G6PC1
4
Show member pathways
11.4 GAA G6PC1
5
Show member pathways
11.26 SLC37A4 G6PC1
6 10.63 SLC37A4 G6PC1

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

Cellular components related to Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 intracellular membrane-bounded organelle GO:0043231 9.13 SLC37A4 GAA G6PC1
2 integral component of endoplasmic reticulum membrane GO:0030176 8.62 SLC37A4 G6PC1

Biological processes related to Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 steroid metabolic process GO:0008202 9.46 SLC37A4 G6PC1
2 glucose homeostasis GO:0042593 9.43 SLC37A4 G6PC1
3 cholesterol homeostasis GO:0042632 9.4 SLC37A4 G6PC1
4 glucose metabolic process GO:0006006 9.37 SLC37A4 GAA
5 gluconeogenesis GO:0006094 9.32 SLC37A4 G6PC1
6 triglyceride metabolic process GO:0006641 9.26 SLC37A4 G6PC1
7 glycogen catabolic process GO:0005980 9.16 GAA G6PC1
8 glucose-6-phosphate transport GO:0015760 8.96 SLC37A4 G6PC1
9 glycogen metabolic process GO:0005977 8.8 SLC37A4 GAA G6PC1

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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