MCID: GLY081
MIFTS: 42

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 59
Glycogen Storage Disease Type I 59 73
Glycogen Storage Disease Due to G6p Deficiency 59
Glycogen Storage Disease Type Ia 73
Glycogen Storage Disease Type 1 59
Gsd Due to G6p Deficiency 59
Hepatorenal Glycogenosis 59
Glycogenosis Type I 59
Glycogenosis Type 1 59
Von Gierke Disease 59
G6p Deficiency 59
Gsd Type I 59
Gsd Type 1 59

Characteristics:

Orphanet epidemiological data:

59
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 59 ORPHA364
UMLS via Orphanet 74 C2919796 C0017920
ICD10 via Orphanet 34 E74.0

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 glycogen storage disease, and has symptoms including intermittent diarrhea An important gene associated with Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency is G6PC (Glucose-6-Phosphatase Catalytic Subunit), and among its related pathways/superpathways are Glycosaminoglycan metabolism and Glucose metabolism. Affiliated tissues include liver, bone and kidney, and related phenotypes are seizures and muscular hypotonia

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 all 32)
# Related Disease Score Top Affiliating Genes
1 glycogen storage disease ia 31.9 G6PC SLC37A4
2 glycogen storage disease 30.5 G6PC SLC37A4
3 fanconi-bickel syndrome 11.5
4 glycogen storage disease ib 11.3
5 glycogen storage disease ic 11.3
6 glycogen storage disease v 11.3
7 glycogen storage disease ixa1 11.1
8 hepatic adenomas, familial 10.3
9 hyperuricemia 10.3
10 hepatocellular adenoma 10.2
11 hypoglycemia 10.2
12 hepatocellular carcinoma 10.1
13 xanthomatosis 10.1
14 gastric cancer 10.1
15 arthritis 10.1
16 gout 10.1
17 adenoma 10.1
18 hypogonadotropic hypogonadism 10.0
19 hypogonadism 10.0
20 lactic acidosis 10.0
21 pyruvate carboxylase deficiency 10.0
22 hyperinsulinemic hypoglycemia, familial, 2 10.0
23 pulmonary hypertension 10.0
24 neutropenia 10.0
25 inflammatory bowel disease 10.0
26 fanconi syndrome 10.0
27 hypothyroidism 10.0
28 pancreatitis 10.0
29 hypopituitarism 10.0
30 chitotriosidase deficiency 10.0
31 fatty liver disease 9.9
32 diabetes mellitus 9.9

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:

59 32 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 59 32 hallmark (90%) Very frequent (99-80%) HP:0001250
2 muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001252
3 recurrent respiratory infections 59 32 hallmark (90%) Very frequent (99-80%) HP:0002205
4 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
5 cognitive impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0100543
6 full cheeks 59 32 hallmark (90%) Very frequent (99-80%) HP:0000293
7 hypoglycemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001943
8 hyperuricemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002149
9 hyperlipidemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0003077
10 xanthomatosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000991
11 recurrent infections 59 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

Search Clinical Trials , 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:

41
Liver, Bone, Kidney, Skin, Brain, Thyroid, Bone Marrow

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 101)
# Title Authors Year
1
Polycystic kidney features of the renal pathology in glycogen storage disease type I: possible evolution to renal neoplasia. ( 29869165 )
2018
2
Disturbed sphingolipid metabolism with elevated 1-deoxysphingolipids in glycogen storage disease type I - A link to metabolic control. ( 30037504 )
2018
3
Malignant transformation of hepatocellular adenoma with bone marrow metaplasia arising in glycogen storage disease type I: A case report. ( 27900094 )
2016
4
Progressive development of renal cysts in glycogen storage disease type I. ( 27436577 )
2016
5
Safety and Efficacy of Chronic Extended Release Cornstarch Therapy for Glycogen Storage Disease Type I. ( 26303612 )
2015
6
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
7
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
8
Progression of renal damage in glycogen storage disease type I is associated to hyperlipidemia: a multicenter prospective italian study. ( 25641239 )
2015
9
Alternative nighttime nutrition regimens in glycogen storage disease type I: a controlled crossover study. ( 26109257 )
2015
10
Glycogen Storage Disease Type I Presenting with Hypertension During Infancy. ( 25735438 )
2015
11
Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics. ( 25356975 )
2014
12
Glycogen storage disease type I: clinical and laboratory profile. ( 25019649 )
2014
13
Liver transplantation in glycogen storage disease type I. ( 24716823 )
2014
14
Regression of Hepatocellular Adenomas with Strict Dietary Therapy in Patients with Glycogen Storage Disease Type I. ( 25308557 )
2014
15
Continuous glucose monitoring in children with glycogen storage disease type I. ( 24149443 )
2014
16
Asymmetric dimethylarginine (ADMA) and L-arginine levels in children with glycogen storage disease type I. ( 23412857 )
2013
17
Quality of Life in Adult Patients with Glycogen Storage Disease Type I: Results of a Multicenter Italian Study. ( 24363035 )
2013
18
Fertility and pregnancy in women affected by glycogen storage disease type I, results of a multicenter Italian study. ( 22562700 )
2013
19
Molecular characterization of hepatocellular adenomas developed in patients with glycogen storage disease type I. ( 23046672 )
2013
20
Multiple hepatocellular adenomas in a patient with glycogen storage disease type I: various enhancement patterns in MRI with Gd-EOB-DTPA. ( 21416130 )
2012
21
Hypercalcemia in glycogen storage disease type I patients of Turkish origin. ( 22397040 )
2012
22
[Cardiovascular risk profile of patients with glycogen storage disease type I]. ( 21924075 )
2011
23
Natural history of hepatocellular adenoma formation in glycogen storage disease type I. ( 21481415 )
2011
24
Dietary dilemmas in the management of glycogen storage disease type I. ( 21491105 )
2011
25
Hepatorenal correction in murine glycogen storage disease type I with a double-stranded adeno-associated virus vector. ( 21730973 )
2011
26
Glycogen storage disease type I and G6Pase-I^ deficiency: etiology and therapy. ( 20975743 )
2010
27
Hypovitaminosis D in glycogen storage disease type I. ( 20060350 )
2010
28
Ischemic stroke in an adult with glycogen storage disease type I. ( 20699197 )
2010
29
Cell death and stress signaling in glycogen storage disease type I. ( 19756389 )
2009
30
Renal function in glycogen storage disease type I, natural course, and renopreservative effects of ACE inhibition. ( 19808227 )
2009
31
Vascular dysfunction in glycogen storage disease type I. ( 19101686 )
2009
32
Bispectral index may not reflect the depth of anaesthesia in a patient with glycogen storage disease type I. ( 19749120 )
2009
33
Emerging therapies for glycogen storage disease type I. ( 19541498 )
2009
34
Psychosocial functioning in youth with glycogen storage disease type I. ( 18296725 )
2008
35
Glycogen storage disease type I in Tunisia: an epidemiological analysis. ( 18679824 )
2008
36
Increased prevalence of thyroid autoimmunity and hypothyroidism in patients with glycogen storage disease type I. ( 17307551 )
2007
37
Glycogen storage disease type I--between chronic ambulatory follow-up and pediatric emergency. ( 17410288 )
2007
38
Exercise capacity and biochemical profile during exercise in patients with glycogen storage disease type I. ( 15671110 )
2005
39
Brain damage in glycogen storage disease type I. ( 15127000 )
2004
40
Guidelines for management of glycogen storage disease type I - European Study on Glycogen Storage Disease Type I (ESGSD I). ( 12373584 )
2002
41
Intestinal function in glycogen storage disease type I. ( 12227456 )
2002
42
Glycogen storage disease type I: diagnosis and phenotype/genotype correlation. ( 12373566 )
2002
43
Glycogen storage disease type I: indications for liver and/or kidney transplantation. ( 12373572 )
2002
44
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
45
Glycogen storage disease type I: pathophysiology of liver adenomas. ( 12373570 )
2002
46
Effect of ramipril in a patient with glycogen storage disease type I and nephrotic-range proteinuria. ( 11768587 )
2001
47
Continuous glucose monitoring in children with glycogen storage disease type I. ( 11916320 )
2001
48
Spontaneous regression of hepatic adenoma in a patient with glycogen storage disease type I after hemodialysis: ultrasonographic and CT findings. ( 11579951 )
2001
49
How many forms of glycogen storage disease type I? ( 10834514 )
2000
50
Neutropenia, neutrophil dysfunction, and inflammatory bowel disease in glycogen storage disease type Ib: results of the European Study on Glycogen Storage Disease type I. ( 10931410 )
2000

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 182)
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC37A4 NM_001467.5(SLC37A4): c.1042_1043delCT (p.Leu348Valfs) deletion Pathogenic/Likely pathogenic rs80356491 GRCh37 Chromosome 11, 118895981: 118895982
2 SLC37A4 NM_001467.5(SLC37A4): c.1042_1043delCT (p.Leu348Valfs) deletion Pathogenic/Likely pathogenic rs80356491 GRCh38 Chromosome 11, 119025271: 119025272
3 G6PC NM_000151.3(G6PC): c.379_380dupTA (p.Tyr128Thrfs) duplication Pathogenic/Likely pathogenic rs80356488 GRCh37 Chromosome 17, 41059578: 41059579
4 G6PC NM_000151.3(G6PC): c.379_380dupTA (p.Tyr128Thrfs) duplication Pathogenic/Likely pathogenic rs80356488 GRCh38 Chromosome 17, 42907561: 42907562
5 G6PC NM_000151.3(G6PC): c.247C> T (p.Arg83Cys) single nucleotide variant Pathogenic rs1801175 GRCh37 Chromosome 17, 41055964: 41055964
6 G6PC NM_000151.3(G6PC): c.247C> T (p.Arg83Cys) single nucleotide variant Pathogenic rs1801175 GRCh38 Chromosome 17, 42903947: 42903947
7 G6PC NM_000151.3(G6PC): c.883C> T (p.Arg295Cys) single nucleotide variant Pathogenic/Likely pathogenic rs104894563 GRCh37 Chromosome 17, 41063252: 41063252
8 G6PC NM_000151.3(G6PC): c.883C> T (p.Arg295Cys) single nucleotide variant Pathogenic/Likely pathogenic rs104894563 GRCh38 Chromosome 17, 42911235: 42911235
9 G6PC NM_000151.3(G6PC): c.79delC (p.Gln27Argfs) deletion Pathogenic rs80356479 GRCh37 Chromosome 17, 41052972: 41052972
10 G6PC NM_000151.3(G6PC): c.79delC (p.Gln27Argfs) deletion Pathogenic rs80356479 GRCh38 Chromosome 17, 42900955: 42900955
11 SLC37A4 NM_001164277.1(SLC37A4): c.81T> A (p.Asn27Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs193302889 GRCh37 Chromosome 11, 118899999: 118899999
12 SLC37A4 NM_001164277.1(SLC37A4): c.81T> A (p.Asn27Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs193302889 GRCh38 Chromosome 11, 119029289: 119029289
13 G6PC NM_000151.3(G6PC): c.-45G> A single nucleotide variant Conflicting interpretations of pathogenicity rs367816430 GRCh37 Chromosome 17, 41052849: 41052849
14 G6PC NM_000151.3(G6PC): c.-45G> A single nucleotide variant Conflicting interpretations of pathogenicity rs367816430 GRCh38 Chromosome 17, 42900832: 42900832
15 SLC37A4 NM_001164277.1(SLC37A4): c.149-14A> G single nucleotide variant Benign/Likely benign rs79849261 GRCh38 Chromosome 11, 119028440: 119028440
16 SLC37A4 NM_001164277.1(SLC37A4): c.149-14A> G single nucleotide variant Benign/Likely benign rs79849261 GRCh37 Chromosome 11, 118899150: 118899150
17 SLC37A4 NM_001164277.1(SLC37A4): c.183T> C (p.Ala61=) single nucleotide variant Benign/Likely benign rs34123220 GRCh38 Chromosome 11, 119028392: 119028392
18 SLC37A4 NM_001164277.1(SLC37A4): c.183T> C (p.Ala61=) single nucleotide variant Benign/Likely benign rs34123220 GRCh37 Chromosome 11, 118899102: 118899102
19 SLC37A4 NM_001164277.1(SLC37A4): c.-516G> A single nucleotide variant Benign rs3759012 GRCh38 Chromosome 11, 119030552: 119030552
20 SLC37A4 NM_001164277.1(SLC37A4): c.-516G> A single nucleotide variant Benign rs3759012 GRCh37 Chromosome 11, 118901262: 118901262
21 G6PC NM_000151.3(G6PC): c.*3G> A single nucleotide variant Benign/Likely benign rs191399793 GRCh37 Chromosome 17, 41063446: 41063446
22 G6PC NM_000151.3(G6PC): c.*3G> A single nucleotide variant Benign/Likely benign rs191399793 GRCh38 Chromosome 17, 42911429: 42911429
23 G6PC NM_000151.3(G6PC): c.432G> A (p.Pro144=) single nucleotide variant Benign/Likely benign rs161628 GRCh37 Chromosome 17, 41059631: 41059631
24 G6PC NM_000151.3(G6PC): c.432G> A (p.Pro144=) single nucleotide variant Benign/Likely benign rs161628 GRCh38 Chromosome 17, 42907614: 42907614
25 G6PC NM_000151.3(G6PC): c.*23T> C single nucleotide variant Benign rs2229611 GRCh38 Chromosome 17, 42911449: 42911449
26 G6PC NM_000151.3(G6PC): c.*23T> C single nucleotide variant Benign rs2229611 GRCh37 Chromosome 17, 41063466: 41063466
27 G6PC NM_000151.3(G6PC): c.340+10C> A single nucleotide variant Conflicting interpretations of pathogenicity rs368450665 GRCh37 Chromosome 17, 41056067: 41056067
28 G6PC NM_000151.3(G6PC): c.340+10C> A single nucleotide variant Conflicting interpretations of pathogenicity rs368450665 GRCh38 Chromosome 17, 42904050: 42904050
29 SLC37A4 NM_001164277.1(SLC37A4): c.*283T> C single nucleotide variant Uncertain significance rs886047746 GRCh37 Chromosome 11, 118895337: 118895337
30 SLC37A4 NM_001164277.1(SLC37A4): c.*283T> C single nucleotide variant Uncertain significance rs886047746 GRCh38 Chromosome 11, 119024627: 119024627
31 SLC37A4 NM_001164277.1(SLC37A4): c.*139G> T single nucleotide variant Uncertain significance rs886047747 GRCh37 Chromosome 11, 118895481: 118895481
32 SLC37A4 NM_001164277.1(SLC37A4): c.*139G> T single nucleotide variant Uncertain significance rs886047747 GRCh38 Chromosome 11, 119024771: 119024771
33 SLC37A4 NM_001164277.1(SLC37A4): c.*31C> T single nucleotide variant Uncertain significance rs564775174 GRCh38 Chromosome 11, 119024879: 119024879
34 SLC37A4 NM_001164277.1(SLC37A4): c.*31C> T single nucleotide variant Uncertain significance rs564775174 GRCh37 Chromosome 11, 118895589: 118895589
35 SLC37A4 NM_001164277.1(SLC37A4): c.1119C> T (p.Ala373=) single nucleotide variant Uncertain significance rs886047749 GRCh38 Chromosome 11, 119025195: 119025195
36 SLC37A4 NM_001164277.1(SLC37A4): c.1119C> T (p.Ala373=) single nucleotide variant Uncertain significance rs886047749 GRCh37 Chromosome 11, 118895905: 118895905
37 SLC37A4 NM_001164277.1(SLC37A4): c.-279C> T single nucleotide variant Uncertain significance rs886047752 GRCh37 Chromosome 11, 118901025: 118901025
38 SLC37A4 NM_001164277.1(SLC37A4): c.-279C> T single nucleotide variant Uncertain significance rs886047752 GRCh38 Chromosome 11, 119030315: 119030315
39 SLC37A4 NM_001164277.1(SLC37A4): c.*138C> T single nucleotide variant Uncertain significance rs867580827 GRCh37 Chromosome 11, 118895482: 118895482
40 SLC37A4 NM_001164277.1(SLC37A4): c.*138C> T single nucleotide variant Uncertain significance rs867580827 GRCh38 Chromosome 11, 119024772: 119024772
41 SLC37A4 NM_001164277.1(SLC37A4): c.*125G> C single nucleotide variant Benign rs8301 GRCh38 Chromosome 11, 119024785: 119024785
42 SLC37A4 NM_001164277.1(SLC37A4): c.*125G> C single nucleotide variant Benign rs8301 GRCh37 Chromosome 11, 118895495: 118895495
43 SLC37A4 NM_001164277.1(SLC37A4): c.*5A> C single nucleotide variant Uncertain significance rs373050741 GRCh38 Chromosome 11, 119024905: 119024905
44 SLC37A4 NM_001164277.1(SLC37A4): c.*5A> C single nucleotide variant Uncertain significance rs373050741 GRCh37 Chromosome 11, 118895615: 118895615
45 SLC37A4 NM_001164277.1(SLC37A4): c.-217G> A single nucleotide variant Uncertain significance rs527772065 GRCh37 Chromosome 11, 118900963: 118900963
46 SLC37A4 NM_001164277.1(SLC37A4): c.-217G> A single nucleotide variant Uncertain significance rs527772065 GRCh38 Chromosome 11, 119030253: 119030253
47 SLC37A4 NM_001164277.1(SLC37A4): c.-384G> A single nucleotide variant Uncertain significance rs886047753 GRCh37 Chromosome 11, 118901130: 118901130
48 SLC37A4 NM_001164277.1(SLC37A4): c.-384G> A single nucleotide variant Uncertain significance rs886047753 GRCh38 Chromosome 11, 119030420: 119030420
49 SLC37A4 NM_001164277.1(SLC37A4): c.-670C> T single nucleotide variant Uncertain significance rs886047754 GRCh37 Chromosome 11, 118901416: 118901416
50 SLC37A4 NM_001164277.1(SLC37A4): c.-670C> T single nucleotide variant Uncertain significance rs886047754 GRCh38 Chromosome 11, 119030706: 119030706

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

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 endoplasmic reticulum membrane GO:0005789 9.16 G6PC SLC37A4
2 intracellular membrane-bounded organelle GO:0043231 8.96 G6PC SLC37A4
3 integral component of endoplasmic reticulum membrane GO:0030176 8.62 G6PC SLC37A4

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 9.4 G6PC SLC37A4
2 glucose homeostasis GO:0042593 9.37 G6PC SLC37A4
3 cholesterol homeostasis GO:0042632 9.32 G6PC SLC37A4
4 gluconeogenesis GO:0006094 9.26 G6PC SLC37A4
5 glycogen metabolic process GO:0005977 9.16 G6PC SLC37A4
6 triglyceride metabolic process GO:0006641 8.96 G6PC SLC37A4
7 glucose-6-phosphate transport GO:0015760 8.62 G6PC SLC37A4

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

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74 UMLS via Orphanet
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