MCID: GLY081
MIFTS: 24

Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency

Categories: Liver diseases, Nephrological diseases, Metabolic 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 55
Glycogen Storage Disease Type I 55 69
Glycogen Storage Disease Due to G6p Deficiency 55
Glycogen Storage Disease Type Ia 69
Glycogen Storage Disease Type 1 55
Gsd Due to G6p Deficiency 55
Hepatorenal Glycogenosis 55
Glycogenosis Type I 55
Glycogenosis Type 1 55
Von Gierke Disease 55
G6p Deficiency 55
Gsd Type I 55
Gsd Type 1 55

Characteristics:

Orphanet epidemiological data:

55
glycogen storage disease due to glucose-6-phosphatase deficiency
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

Orphanet 55 ORPHA364
UMLS via Orphanet 70 C0017920 C2919796
ICD10 via Orphanet 33 E74.0
UMLS 69 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 has symptoms including full cheeks, xanthomatosis and seizures. An important gene associated with Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency is G6PC (Glucose-6-Phosphatase Catalytic Subunit). The drug Hypoglycemic Agents has been mentioned in the context of this disorder. Affiliated tissues include liver.

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:

# Related Disease Score Top Affiliating Genes
1 glycogen storage disease ia 11.4

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:

55 31 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 full cheeks 55 31 hallmark (90%) Very frequent (99-80%) HP:0000293
2 xanthomatosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0000991
3 seizures 55 31 hallmark (90%) Very frequent (99-80%) HP:0001250
4 muscular hypotonia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001252
5 hypoglycemia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001943
6 hyperuricemia 55 31 hallmark (90%) Very frequent (99-80%) HP:0002149
7 recurrent respiratory infections 55 31 hallmark (90%) Very frequent (99-80%) HP:0002205
8 hyperlipidemia 55 31 hallmark (90%) Very frequent (99-80%) HP:0003077
9 short stature 55 31 hallmark (90%) Very frequent (99-80%) HP:0004322
10 cognitive impairment 55 31 hallmark (90%) Very frequent (99-80%) HP:0100543
11 recurrent infections 55 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 Hypoglycemic Agents Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Diet Treatment Glucose Transporter Type 1 Deficiency (G1D) Not yet recruiting NCT03181399 Phase 2 Triheptanoin
2 Treatment Development of Triheptanoin (G1D) Recruiting NCT03041363 Phase 1 Triheptanoin
3 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 Not Applicable
4 Overnight Feeding Study in Glycogen Storage Disease Type 1 Completed NCT01961076 Not Applicable
5 Sleep and Quality of Life in Patients With Glycogen Storage Disease on Standard Versus Modified Uncooked Cornstarch Completed NCT02054832 Not Applicable
6 Study of the Relationship Between Glycogen Storage Disease Type Ia and Inflammatory Bowel Disease Completed NCT01854242
7 Glycogen Storage Disease Breath Test Study Recruiting NCT03218904 Not Applicable
8 Glycosade v UCCS in the Dietary Management of Hepatic GSD Recruiting NCT02318966 Not Applicable
9 Biomarker for Glycogen Storage Diseases Recruiting NCT02385162
10 Clinical Evaluation of a Non-Invasive Hypoglycemia Detector in a Glycogen Storage Disease Population Terminated NCT02338817 Not Applicable

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:

38
Liver

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 53)
# Title Authors Year
1
Malignant transformation of hepatocellular adenoma with bone marrow metaplasia arising in glycogen storage disease type I: A case report. ( 27900094 )
2016
2
Progressive development of renal cysts in glycogen storage disease type I. ( 27436577 )
2016
3
Alternative nighttime nutrition regimens in glycogen storage disease type I: a controlled crossover study. ( 26109257 )
2015
4
Reappraisal of the Role of Portacaval Shunting in the Growth of Patients With Glycogen Storage Disease Type I in the Era of Liver Transplantation. ( 26360666 )
2015
5
Glycogen Storage Disease Type I Presenting with Hypertension During Infancy. ( 25735438 )
2015
6
Muscle Ultrasound in Patients with Glycogen Storage Disease Types I and III. ( 26437929 )
2015
7
A pilot longitudinal study of the use of waxy maize heat modified starch in the treatment of adults with glycogen storage disease type I: a randomized double-blind cross-over study. ( 25758258 )
2015
8
Progression of renal damage in glycogen storage disease type I is associated to hyperlipidemia: a multicenter prospective italian study. ( 25641239 )
2015
9
Safety and Efficacy of Chronic Extended Release Cornstarch Therapy for Glycogen Storage Disease Type I. ( 26303612 )
2015
10
Regression of Hepatocellular Adenomas with Strict Dietary Therapy in Patients with Glycogen Storage Disease Type I. ( 25308557 )
2014
11
Continuous glucose monitoring in children with glycogen storage disease type I. ( 24149443 )
2014
12
Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics. ( 25356975 )
2014
13
Quality of Life in Adult Patients with Glycogen Storage Disease Type I: Results of a Multicenter Italian Study. ( 24363035 )
2013
14
Asymmetric dimethylarginine (ADMA) and L-arginine levels in children with glycogen storage disease type I. ( 23412857 )
2013
15
Molecular characterization of hepatocellular adenomas developed in patients with glycogen storage disease type I. ( 23046672 )
2013
16
Fertility and pregnancy in women affected by glycogen storage disease type I, results of a multicenter Italian study. ( 22562700 )
2013
17
Multiple hepatocellular adenomas in a patient with glycogen storage disease type I: various enhancement patterns in MRI with Gd-EOB-DTPA. ( 21416130 )
2012
18
Hypercalcemia in glycogen storage disease type I patients of Turkish origin. ( 22397040 )
2012
19
Dietary dilemmas in the management of glycogen storage disease type I. ( 21491105 )
2011
20
Hepatorenal correction in murine glycogen storage disease type I with a double-stranded adeno-associated virus vector. ( 21730973 )
2011
21
Natural history of hepatocellular adenoma formation in glycogen storage disease type I. ( 21481415 )
2011
22
Glycogen storage disease type I and G6Pase-I^ deficiency: etiology and therapy. ( 20975743 )
2010
23
Ischemic stroke in an adult with glycogen storage disease type I. ( 20699197 )
2010
24
Hypovitaminosis D in glycogen storage disease type I. ( 20060350 )
2010
25
Vascular dysfunction in glycogen storage disease type I. ( 19101686 )
2009
26
Emerging therapies for glycogen storage disease type I. ( 19541498 )
2009
27
Cell death and stress signaling in glycogen storage disease type I. ( 19756389 )
2009
28
Renal function in glycogen storage disease type I, natural course, and renopreservative effects of ACE inhibition. ( 19808227 )
2009
29
Bispectral index may not reflect the depth of anaesthesia in a patient with glycogen storage disease type I. ( 19749120 )
2009
30
Glycogen storage disease type I in Tunisia: an epidemiological analysis. ( 18679824 )
2008
31
Psychosocial functioning in youth with glycogen storage disease type I. ( 18296725 )
2008
32
Glycogen storage disease type I--between chronic ambulatory follow-up and pediatric emergency. ( 17410288 )
2007
33
Increased prevalence of thyroid autoimmunity and hypothyroidism in patients with glycogen storage disease type I. ( 17307551 )
2007
34
Glycogen storage disease types I and II: treatment updates. ( 17308886 )
2007
35
Serum lipid and lipoprotein profile of patients with glycogen storage disease types I, III and IX. ( 17407002 )
2007
36
Exercise capacity and biochemical profile during exercise in patients with glycogen storage disease type I. ( 15671110 )
2005
37
Bone mineral density and markers of bone turnover in patients with glycogen storage disease types I, III and IX. ( 14970741 )
2004
38
Brain damage in glycogen storage disease type I. ( 15127000 )
2004
39
Glycogen storage disease type I: pathophysiology of liver adenomas. ( 12373570 )
2002
40
Guidelines for management of glycogen storage disease type I - European Study on Glycogen Storage Disease Type I (ESGSD I). ( 12373584 )
2002
41
Glycogen storage disease type I: indications for liver and/or kidney transplantation. ( 12373572 )
2002
42
Glycogen storage disease type I: diagnosis and phenotype/genotype correlation. ( 12373566 )
2002
43
Glycogen storage disease type I: diagnosis, management, clinical course and outcome. Results of the European Study on Glycogen Storage Disease Type I (ESGSD I). ( 12373567 )
2002
44
Intestinal function in glycogen storage disease type I. ( 12227456 )
2002
45
Continuous glucose monitoring in children with glycogen storage disease type I. ( 11916320 )
2001
46
Spontaneous regression of hepatic adenoma in a patient with glycogen storage disease type I after hemodialysis: ultrasonographic and CT findings. ( 11579951 )
2001
47
Effect of ramipril in a patient with glycogen storage disease type I and nephrotic-range proteinuria. ( 11768587 )
2001
48
How many forms of glycogen storage disease type I? ( 10834514 )
2000
49
The putative glucose 6-phosphate translocase gene is mutated in essentially all cases of glycogen storage disease type I non-a. ( 10482962 )
1999
50
Glycogen Storage Disease Type I ( 20301489 )
1993

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
# Gene Variation Type Significance SNP ID Assembly Location
1 G6PC NM_000151.3(G6PC): c.379_380dupTA (p.Tyr128Thrfs) duplication Pathogenic/Likely pathogenic rs80356488 GRCh37 Chromosome 17, 41059578: 41059579
2 G6PC NM_000151.3(G6PC): c.247C> T (p.Arg83Cys) single nucleotide variant Pathogenic rs1801175 GRCh37 Chromosome 17, 41055964: 41055964
3 G6PC NM_000151.3(G6PC): c.883C> T (p.Arg295Cys) single nucleotide variant Pathogenic/Likely pathogenic rs104894563 GRCh37 Chromosome 17, 41063252: 41063252
4 G6PC NM_000151.3(G6PC): c.79delC (p.Gln27Argfs) deletion Pathogenic rs80356479 GRCh37 Chromosome 17, 41052972: 41052972

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

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
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47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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