GSD1A
MCID: GLY060
MIFTS: 63

Glycogen Storage Disease Ia (GSD1A)

Categories: Blood diseases, Cardiovascular diseases, Genetic diseases, Liver diseases, Metabolic diseases, Muscle diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Glycogen Storage Disease Ia

MalaCards integrated aliases for Glycogen Storage Disease Ia:

Name: Glycogen Storage Disease Ia 56 73 13
Glycogen Storage Disease Type I 12 24 25 36 54 43 71
Von Gierke Disease 56 12 74 52 25 73
Hepatorenal Form of Glycogen Storage Disease 56 52 25 73
Hepatorenal Glycogenosis 56 52 25 73
Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency Type Ia 58 29 6
Glucose-6-Phosphatase Deficiency 56 52 73
Glycogen Storage Disease, Type I 12 29 6
Glycogen Storage Disease I 56 12 15
Glucose-6-Phosphate Transport Defect 25 71
Glycogen Storage Disease Type 1a 52 58
Glycogen Storage Disease 1a 52 73
Von Gierke's Disease 12 25
Gsd1a 56 73
Gsd1 56 52
Glycogenosis Due to Glucose-6-Phosphatase Deficiency Type 1a 58
Glycogenosis Due to Glucose-6-Phosphatase Deficiency Type Ia 58
Glucose-6-Phosphatase Deficiency Glycogen Storage Disease 52
Glycogen Storage Disease Due to G6p Deficiency Type Ia 58
Deficiency of Glucose-6-Phosphatase 12
Storage Disease, Glycogen, Type 1a 39
Gsd Due to G6p Deficiency Type 1a 58
Gsd Due to G6p Deficiency Type Ia 58
Glycogen Storage Disease I; Gsd1 56
Glycogen Storage Disease Type Ia 71
Glucose-6-Phosphate Deficiency 25
G6p Deficiency Type 1a 58
Glycogenosis Type Ia 58
Glycogenosis Type I 12
Glycogenosis Type 1 52
Gsd Type 1a 58
Gsd Type I 25
Gsd Ia 56
Gsd-Ia 73
Gsd I 25
Gsdia 58

Characteristics:

Orphanet epidemiological data:

58
glycogen storage disease due to glucose-6-phosphatase deficiency type ia
Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
often diagnosed between ages 3-4 months
early diagnosis and treatment prevent many complications


HPO:

31
glycogen storage disease ia:
Inheritance autosomal recessive inheritance


Classifications:

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


Summaries for Glycogen Storage Disease Ia

Genetics Home Reference : 25 Glycogen storage disease type I (also known as GSDI or von Gierke disease) is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulation of glycogen in certain organs and tissues, especially the liver, kidneys, and small intestines, impairs their ability to function normally. Signs and symptoms of this condition typically appear around the age of 3 or 4 months, when babies start to sleep through the night and do not eat as frequently as newborns. Affected infants may have low blood sugar (hypoglycemia), which can lead to seizures. They can also have a buildup of lactic acid in the body (lactic acidosis), high blood levels of a waste product called uric acid (hyperuricemia), and excess amounts of fats in the blood (hyperlipidemia). As they get older, children with GSDI have thin arms and legs and short stature. An enlarged liver may give the appearance of a protruding abdomen. The kidneys may also be enlarged. Affected individuals may also have diarrhea and deposits of cholesterol in the skin (xanthomas). People with GSDI may experience delayed puberty. Beginning in young to mid-adulthood, affected individuals may have thinning of the bones (osteoporosis), a form of arthritis resulting from uric acid crystals in the joints (gout), kidney disease, and high blood pressure in the blood vessels that supply the lungs (pulmonary hypertension). Females with this condition may also have abnormal development of the ovaries (polycystic ovaries). In affected teens and adults, tumors called adenomas may form in the liver. Adenomas are usually noncancerous (benign), but occasionally these tumors can become cancerous (malignant). Researchers have described two types of GSDI, which differ in their signs and symptoms and genetic cause. These types are known as glycogen storage disease type Ia (GSDIa) and glycogen storage disease type Ib (GSDIb). Two other forms of GSDI have been described, and they were originally named types Ic and Id. However, these types are now known to be variations of GSDIb; for this reason, GSDIb is sometimes called GSD type I non-a. Many people with GSDIb have a shortage of white blood cells (neutropenia), which can make them prone to recurrent bacterial infections. Neutropenia is usually apparent by age 1. Many affected individuals also have inflammation of the intestinal walls (inflammatory bowel disease). People with GSDIb may have oral problems including cavities, inflammation of the gums (gingivitis), chronic gum (periodontal) disease, abnormal tooth development, and open sores (ulcers) in the mouth. The neutropenia and oral problems are specific to people with GSDIb and are typically not seen in people with GSDIa.

MalaCards based summary : Glycogen Storage Disease Ia, also known as glycogen storage disease type i, is related to g6pc3 deficiency and fanconi-bickel syndrome, and has symptoms including intermittent diarrhea An important gene associated with Glycogen Storage Disease Ia is G6PC (Glucose-6-Phosphatase Catalytic Subunit), and among its related pathways/superpathways are Glycolysis / Gluconeogenesis and Carbohydrate digestion and absorption. The drugs Hydrocortisone and Hydrocortisone acetate have been mentioned in the context of this disorder. Affiliated tissues include liver, kidney and small intestine, and related phenotypes are hepatomegaly and short stature

Disease Ontology : 12 A glycogen storage disease that has material basis in deficiency of the glucose-6-phosphatase enzyme which impairs the ability of the liver to produce free glucose from glycogen and from gluconeogenesis and is characterized by accumulation of glycogen and fat in the liver and kidneys, resulting in hepatomegaly and renomegaly.

NIH Rare Diseases : 52 Glycogen storage disease type 1 is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells . The accumulation of glycogen in certain organs and tissues , especially the liver, kidneys, and small intestines, impairs their ability to function normally. Researchers have described two types of glycogen storage disease type 1, which differ in their signs and symptoms and genetic cause. These types are known as glycogen storage disease type IA and glycogen storage disease type IB. Glycogen storage disease type 1A is characterized by growth retardation leading to short stature and accumulation of glycogen and fat in the liver and kidneys. Although some newborns present with severe hypoglycemia , it is more common for infants to present at age three to four months with hepatomegaly , lactic acidosis , hyperuricemia , hyperlipidemia, and/or hypoglycemic seizures . Untreated children typically have doll-like faces with fat cheeks and relatively thin extremities. Xanthoma and diarrhea may be present. Impaired platelet function can lead to a bleeding tendency, making epistaxis a frequent problem. Glycogen storage disease type 1A is caused by the deficiency of glucose-6-phosphatase (G6Pase) catalytic activity which results from mutations in the G6PC gene . This condition is inherited in an autosomal recessive pattern.

OMIM : 56 Glycogen storage disease type I, also known as von Gierke disease, typically manifests during the first year of life with severe hypoglycemia and hepatomegaly caused by the accumulation of glycogen. Affected individuals exhibit growth retardation, delayed puberty, lactic acidemia, hyperlipidemia, hyperuricemia, and in adults a high incidence of hepatic adenomas (summary by Lei et al., 1993). (232200)

KEGG : 36 Glycogen storage disease type I (GSD-I), also known as von Gierke disease, is an autosomal recessive disorder caused by a deficiency in microsomal glucose-6-phosphatase (G6Pase) activity. There are four distinct subgroups of this disorder, Ia, Ib, Ic, and Id. GSD-Ia is caused by mutations in the G6Pase gene. Clinical manifestations include short stature, hepatomegaly, hypoglycemia, hyperuricemia, and lactic acidemia. GSD-Ib, Ic, and Id result from deficient activity of the phosphate/ pyrophosphate transporter of G6Pase complex and is associated with neutropenia as well as hepatomegaly and hypoglycaemia.

UniProtKB/Swiss-Prot : 73 Glycogen storage disease 1A: A metabolic disorder characterized by impairment of terminal steps of glycogenolysis and gluconeogenesis. Patients manifest a wide range of clinical symptoms and biochemical abnormalities, including hypoglycemia, severe hepatomegaly due to excessive accumulation of glycogen, kidney enlargement, growth retardation, lactic acidemia, hyperlipidemia, and hyperuricemia.

Wikipedia : 74 Glycogen storage disease type I (GSD I) is an inherited disease that results in the liver being unable... more...

GeneReviews: NBK1312

Related Diseases for Glycogen Storage Disease Ia

Diseases in the Glycogen Storage Disease family:

Glycogen Storage Disease Ia Glycogen Storage Disease Ib
Glycogen Storage Disease Ic Glycogen Storage Disease Ii
Glycogen Storage Disease Iii Glycogen Storage Disease Iv
Glycogen Storage Disease V Glycogen Storage Disease Vi
Glycogen Storage Disease Vii Glycogen Storage Disease X
Glycogen Storage Disease Ixb Glycogen Storage Disease, Type Ixd
Glycogen Storage Disease Xii Glycogen Storage Disease Xiii
Glycogen Storage Disease Ixc Glycogen Storage Disease Xv
Glycogen Storage Disease Ix Glycogen Storage Disease Ixa
Glycogen Storage Disease Viii Glycogen Storage Disease Type 0

Diseases related to Glycogen Storage Disease Ia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 168)
# Related Disease Score Top Affiliating Genes
1 g6pc3 deficiency 33.3 G6PC3 G6PC
2 fanconi-bickel syndrome 33.2 INS G6PC
3 hyperlipoproteinemia, type v 32.0 LPL INS
4 phosphorylase kinase deficiency 30.5 PHKA2 NEK3
5 fructose-1,6-bisphosphatase deficiency 30.5 GCG G6PC FBP1
6 glycogen storage disease iii 30.4 SLC37A4 G6PC AGL
7 familial hyperlipidemia 30.3 SLC37A4 LPL INS G6PC
8 hyperuricemia 30.2 SLC37A4 INS G6PC
9 hepatocellular adenoma 30.2 SLC37A4 HNF1A G6PC
10 abdominal obesity-metabolic syndrome 1 30.1 LPL INS GCG
11 hyperinsulinemic hypoglycemia 29.8 INS HNF1A GCG
12 inherited metabolic disorder 29.7 MIR142 LPL INS GCG G6PC
13 hypoglycemia 29.7 SLC37A4 INS GCG G6PC FBP1 AGL
14 glycogen storage disease vi 29.7 GBE1 G6PC AGL
15 glucose intolerance 29.7 LPL INS HNF1A GCG
16 hyperglycemia 29.4 LPL INS HNF1A GCG G6PC
17 carbohydrate metabolic disorder 28.5 SLC37A4 INS GCG GBE1 G6PC AGL
18 glycogen storage disease 28.0 SLC37A4 SLC37A1 PHKA2 NEK3 LPL INS
19 glycogen storage disease due to glucose-6-phosphatase deficiency type ib 12.5
20 glycogen storage disease ic 11.6
21 glycogen storage disease v 11.4
22 malaria 11.3
23 fatty liver disease, nonalcoholic 1 10.4
24 glycogen storage disease, type ixd 10.3 PHKA2 AGL
25 metabolic acidosis 10.3
26 gout 10.3
27 glycogen storage disease ixb 10.3 PHKA2 AGL
28 liver benign neoplasm 10.2 SLC37A4 HNF1A G6PC
29 hepatocellular carcinoma 10.2
30 renal fibrosis 10.2
31 chronic kidney disease 10.2
32 deafness, autosomal recessive 8 10.2 SLC37A3 SLC37A1
33 xanthomatosis 10.2
34 gastric cancer 10.2
35 helix syndrome 10.2
36 pulmonary hypertension 10.2
37 lipid metabolism disorder 10.2
38 pancreatitis 10.2
39 hypercholesterolemia, familial, 1 10.1
40 hypertriglyceridemia, familial 10.1
41 non-alcoholic fatty liver disease 10.1
42 pre-eclampsia 10.1
43 fatty liver disease 10.1
44 fasting hypoglycemia 10.1
45 tremor 10.1
46 postgastrectomy syndrome 10.1 INS GCG
47 anemia, x-linked, with or without neutropenia and/or platelet abnormalities 10.1
48 sickle cell anemia 10.1
49 alacrima, achalasia, and mental retardation syndrome 10.1
50 deficiency anemia 10.1

Graphical network of the top 20 diseases related to Glycogen Storage Disease Ia:



Diseases related to Glycogen Storage Disease Ia

Symptoms & Phenotypes for Glycogen Storage Disease Ia

Human phenotypes related to Glycogen Storage Disease Ia:

31 (show all 26)
# Description HPO Frequency HPO Source Accession
1 hepatomegaly 31 HP:0002240
2 short stature 31 HP:0004322
3 proteinuria 31 HP:0000093
4 delayed puberty 31 HP:0000823
5 decreased muscle mass 31 HP:0003199
6 hypoglycemia 31 HP:0001943
7 hyperuricemia 31 HP:0002149
8 osteoporosis 31 HP:0000939
9 hypertension 31 HP:0000822
10 elevated hepatic transaminase 31 HP:0002910
11 hyperlipidemia 31 HP:0003077
12 nephrolithiasis 31 HP:0000787
13 gout 31 HP:0001997
14 abnormal bleeding 31 HP:0001892
15 enlarged kidney 31 HP:0000105
16 lactic acidosis 31 HP:0003128
17 protuberant abdomen 31 HP:0001538
18 intermittent diarrhea 31 HP:0002254
19 xanthomatosis 31 HP:0000991
20 xanthelasma 31 HP:0001114
21 pancreatitis 31 HP:0001733
22 hepatocellular carcinoma 31 HP:0001402
23 decreased glomerular filtration rate 31 HP:0012213
24 focal segmental glomerulosclerosis 31 HP:0000097
25 lipemia retinalis 31 HP:0000660
26 doll-like facies 31 HP:0000295

Symptoms via clinical synopsis from OMIM:

56
Abdomen Liver:
hepatomegaly
hepatocellular carcinoma
liver adenomas

Laboratory Abnormalities:
proteinuria
hypoglycemia
hyperuricemia
hyperlipidemia
lactic acidosis
more
Muscle Soft Tissue:
decreased muscle mass

Skeletal:
osteoporosis
gouty arthritis

Abdomen External Features:
protuberant abdomen

Abdomen Pancreas:
pancreatitis

Head And Neck Eyes:
lipemia retinalis

Head And Neck Face:
'doll-like' facies

Growth Height:
short stature

Growth Other:
delayed puberty

Metabolic Features:
hypoglycemia

Cardiovascular Vascular:
hypertension

Abdomen Gastrointestinal:
intermittent diarrhea

Genitourinary Kidneys:
focal segmental glomerulosclerosis
renal stones
reduced creatinine clearance
renal enlargement

Hematology:
bleeding diathesis

Skin Nails Hair Skin:
xanthoma

Clinical features from OMIM:

232200

UMLS symptoms related to Glycogen Storage Disease Ia:


intermittent diarrhea

GenomeRNAi Phenotypes related to Glycogen Storage Disease Ia according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Apoptosis resistance GR00093-A-0 8.32 G6PC

MGI Mouse Phenotypes related to Glycogen Storage Disease Ia:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 liver/biliary system MP:0005370 9.23 AGL G6PC GBE1 HNF1A INS LPL

Drugs & Therapeutics for Glycogen Storage Disease Ia

Drugs for Glycogen Storage Disease Ia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 23)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Hydrocortisone Approved, Vet_approved Phase 2 50-23-7 5754
2
Hydrocortisone acetate Approved, Vet_approved Phase 2 50-03-3
3
Empagliflozin Approved Phase 2 864070-44-0
4
Folic acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
5
Thiamine Approved, Investigational, Nutraceutical, Vet_approved Phase 2 59-43-8, 70-16-6 1130
6
Vitamin C Approved, Nutraceutical Phase 2 50-81-7 5785 54670067
7 Trace Elements Phase 2
8 Micronutrients Phase 2
9 Vitamins Phase 2
10 Thiamin Phase 2
11 Vitamin B Complex Phase 2
12 Antioxidants Phase 2
13 glucocorticoids Phase 2
14 Hydrocortisone 17-butyrate 21-propionate Phase 2
15 Folate Phase 2
16 Nutrients Phase 2
17 Hydrocortisone hemisuccinate Phase 2
18 Protective Agents Phase 2
19 Vitamin B9 Phase 2
20 Anti-Inflammatory Agents Phase 2
21 Sodium-Glucose Transporter 2 Inhibitors Phase 2
22 Hypoglycemic Agents Phase 2
23 Pharmaceutical Solutions Phase 1, Phase 2

Interventional clinical trials:

(show all 13)
# Name Status NCT ID Phase Drugs
1 Outcomes of Metabolic Resuscitation Using Ascorbic Acid, Thiamine, and Glucocorticoids in the Early Treatment of Sepsis. Completed NCT03422159 Phase 2 Ascorbic Acid;Thiamine;Hydrocortisone;Sodium Chloride 0.9%
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 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
5 In-Vitro Transdifferentiation of Mesenchymal Stem Cells to Hepatocytes and Allogenic Transplantation of Hepatocytes to the Patients With Homozygous Familial Hypercholesterolemia Completed NCT00515307 Phase 1
6 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
7 Glycogen Storage Disease Type Ia and Inflammatory Bowel Disease: A New Comorbidity or Secondary Consequence Completed NCT01854242
8 A Comparison of Quality of Sleep and Quality of Life in Patients With Glycogen Storage Disease on Standard and Modified Uncooked Cornstarch Completed NCT02054832
9 Application of Novel Techniques to Devise Nutritional Therapies in Subjects With Glycogen Storage Disease Type I Recruiting NCT03218904
10 Anaplerotic Therapy Using Triheptanoin for Patients With Glycogen Storage Disease Type I Recruiting NCT03665636 Early Phase 1 Triheptanoin
11 Biomarker for Glycogen Storage Diseases - AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL Active, not recruiting NCT02385162
12 A Novel Approach to Treatment of Hepatic Glycogen Storage Diseases: a Study Based on the Use of Uncooked Sweet Polvilho Active, not recruiting NCT03871673
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 Ia

Cochrane evidence based reviews: glycogen storage disease type i

Genetic Tests for Glycogen Storage Disease Ia

Genetic tests related to Glycogen Storage Disease Ia:

# Genetic test Affiliating Genes
1 Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency Type Ia 29 G6PC
2 Glycogen Storage Disease, Type I 29

Anatomical Context for Glycogen Storage Disease Ia

MalaCards organs/tissues related to Glycogen Storage Disease Ia:

40
Liver, Kidney, Small Intestine, Ovary, Bone, Skin, Lung

Publications for Glycogen Storage Disease Ia

Articles related to Glycogen Storage Disease Ia:

(show top 50) (show all 343)
# Title Authors PMID Year
1
Mutation frequencies for glycogen storage disease Ia in the Ashkenazi Jewish population. 61 6 56 24
15316959 2004
2
Exon redefinition by a point mutation within exon 5 of the glucose-6-phosphatase gene is the major cause of glycogen storage disease type 1a in Japan. 24 56 6 54
7668282 1995
3
Glycogen storage disease type Ia: molecular diagnosis of 51 Japanese patients and characterization of splicing mutations by analysis of ectopically transcribed mRNA from lymphoblastoid cells. 6 24 56
10748407 2000
4
Glycogen storage disease type 1a in Israel: biochemical, clinical, and mutational studies. 56 6 54
9332655 1997
5
Molecular prenatal diagnosis of glycogen storage disease type Ia. 6 56 54
8734807 1996
6
Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics. 61 6 24
25356975 2014
7
Characterization and pathogenesis of anemia in glycogen storage disease type Ia and Ib. 24 56 61
22678084 2012
8
Mutation analysis in 24 French patients with glycogen storage disease type 1a. 6 56
8733042 1996
9
Genetic basis of glycogen storage disease type 1a: prevalent mutations at the glucose-6-phosphatase locus. 56 6
7573034 1995
10
Identification of mutations in the gene for glucose-6-phosphatase, the enzyme deficient in glycogen storage disease type 1a. 56 6
8182131 1994
11
Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type 1a. 6 56
8211187 1993
12
Diagnosis of a novel glycogen storage disease: type 1aSP. 6 56
2172641 1990
13
Glucose-6-phosphatase mutation G188R confers an atypical glycogen storage disease type 1b phenotype. 24 6
10960498 2000
14
Molecular genetic analysis of 40 patients with glycogen storage disease type Ia: 100% mutation detection rate and 5 novel mutations. 56 24
10612834 2000
15
Mutations in the glucose-6-phosphatase gene of 53 Italian patients with glycogen storage disease type Ia. 56 24
10070617 1999
16
Type I glycogen storage disease with vasoconstrictive pulmonary hypertension. 24 56
2109144 1990
17
Type I glycogen storage disease with focal nodular hyperplasia of the liver and vasoconstrictive pulmonary hypertension. 24 56
6928317 1980
18
Bone mineral density in glycogen storage disease type Ia and Ib. 61 56
22481133 2013
19
Chromosomal and genetic alterations in human hepatocellular adenomas associated with type Ia glycogen storage disease. 56 61
19762333 2009
20
Glycogen Storage Disease Type I 6 61
20301489 2006
21
Glycogen storage disease type I: diagnosis and phenotype/genotype correlation. 61 24 54
12373566 2002
22
Apolipoprotein E polymorphism and serum concentrations in patients with glycogen storage disease type Ia. 54 56
10801051 2000
23
Glycogen storage disease I and hepatocellular tumours. 56 61
8391447 1993
24
Renal complications in glycogen storage disease type I. 56 61
8319728 1993
25
Hyperuricemia in glycogen storage disease type I. Contributions by hypoglycemia and hyperglucagonemia to increased urate production. 61 56
2856925 1985
26
Hemorrhagic pancreatitis in a patient with glycogen storage disease type I. 56 61
6928812 1980
27
Retinal changes in glycogen storage disease type I. 61 56
5238528 1968
28
Sleep and quality of life of patients with glycogen storage disease on standard and modified uncooked cornstarch. 56
29223626 2018
29
Safety and Efficacy of Chronic Extended Release Cornstarch Therapy for Glycogen Storage Disease Type I. 24 61
26303612 2016
30
Regression of hepatocellular adenomas with strict dietary therapy in patients with glycogen storage disease type I. 61 24
25308557 2015
31
Pregnancy in women with glycogen storage disease Ia and Ib. 24 61
24476649 2014
32
Menorrhagia in patients with type I glycogen storage disease. 24 61
24201678 2013
33
Fertility and pregnancy in women affected by glycogen storage disease type I, results of a multicenter Italian study. 24 61
22562700 2013
34
Clinical outcome of hepatocyte transplantation in four pediatric patients with inherited metabolic diseases. 24 61
23231960 2012
35
Natural history of hepatocellular adenoma formation in glycogen storage disease type I. 61 24
21481415 2011
36
Hypovitaminosis D in glycogen storage disease type I. 24 61
20060350 2010
37
Increased prevalence of thyroid autoimmunity and hypothyroidism in patients with glycogen storage disease type I. 24 61
17307551 2007
38
Hepatocyte transplantation for glycogen storage disease type Ib. 24 61
17912954 2007
39
Regulation of blood glucose by hypothalamic pyruvate metabolism. 56
16081739 2005
40
Mutation spectrum of the glucose-6-phosphatase gene and its implication in molecular diagnosis of Korean patients with glycogen storage disease type Ia. 56
15151508 2004
41
Brain damage in glycogen storage disease type I. 61 24
15127000 2004
42
Glycogen storage disease type I: diagnosis, management, clinical course and outcome. Results of the European Study on Glycogen Storage Disease Type I (ESGSD I). 24 61
12373567 2002
43
Sustained hepatic and renal glucose-6-phosphatase expression corrects glycogen storage disease type Ia in mice. 56
12189168 2002
44
Intestinal function in glycogen storage disease type I. 61 24
12227456 2002
45
Type I glycogen storage diseases: disorders of the glucose-6-phosphatase complex. 24 61
11949931 2002
46
Very low-density lipoprotein apolipoprotein B-100 turnover in glycogen storage disease type Ia (von Gierke disease). 56
11757580 2001
47
Decreased urinary citrate excretion in type 1a glycogen storage disease. 56
11241046 2001
48
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. 61 24
10834516 2000
49
How many forms of glycogen storage disease type I? 61 24
10834514 2000
50
The putative glucose 6-phosphate translocase gene is mutated in essentially all cases of glycogen storage disease type I non-a. 61 24
10482962 1999

Variations for Glycogen Storage Disease Ia

ClinVar genetic disease variations for Glycogen Storage Disease Ia:

6 (show top 50) (show all 240) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 G6PC NM_000151.4(G6PC):c.258G>A (p.Trp86Ter)SNV Pathogenic 502134 rs142917638 17:41055975-41055975 17:42903958-42903958
2 G6PC NM_000151.4(G6PC):c.508C>T (p.Arg170Ter)SNV Pathogenic 522204 rs373345919 17:41061381-41061381 17:42909364-42909364
3 G6PC NM_000151.4(G6PC):c.255C>A (p.Tyr85Ter)SNV Pathogenic 543553 rs748363083 17:41055972-41055972 17:42903955-42903955
4 G6PC NM_000151.4(G6PC):c.388_400del (p.Met130fs)deletion Pathogenic 560550 rs1567705064 17:41059587-41059599 17:42907570-42907582
5 G6PC NM_000151.4(G6PC):c.262del (p.Val88fs)deletion Pathogenic 643470 17:41055977-41055977 17:42903960-42903960
6 G6PC NM_000151.4(G6PC):c.518T>C (p.Leu173Pro)SNV Pathogenic 640818 17:41061391-41061391 17:42909374-42909374
7 G6PC NM_000151.4(G6PC):c.563-3C>GSNV Pathogenic 803397 17:41062929-41062929 17:42910912-42910912
8 G6PC NM_000151.4(G6PC):c.209G>A (p.Trp70Ter)SNV Pathogenic 813495 17:41053102-41053102 17:42901085-42901085
9 G6PC NC_000017.11:g.(?_42900800)_(42904229_?)deldeletion Pathogenic 831758 17:41052817-41056246
10 G6PC NM_000151.4(G6PC):c.228G>C (p.Lys76Asn)SNV Pathogenic 855275 17:41053121-41053121 17:42901104-42901104
11 G6PC NM_000151.4(G6PC):c.356A>T (p.His119Leu)SNV Pathogenic 863144 17:41059555-41059555 17:42907538-42907538
12 G6PC NM_000151.4(G6PC):c.384C>G (p.Tyr128Ter)SNV Pathogenic 841886 17:41059583-41059583 17:42907566-42907566
13 G6PC NM_000151.4(G6PC):c.377_378TA[3] (p.Tyr128fs)short repeat Pathogenic 11997 rs80356488 17:41059575-41059576 17:42907558-42907559
14 G6PC NM_000151.4(G6PC):c.247C>T (p.Arg83Cys)SNV Pathogenic 11998 rs1801175 17:41055964-41055964 17:42903947-42903947
15 G6PC NM_000151.4(G6PC):c.1039C>T (p.Gln347Ter)SNV Pathogenic 12000 rs80356487 17:41063408-41063408 17:42911391-42911391
16 G6PC NM_000151.4(G6PC):c.230+4A>GSNV Pathogenic 12002 rs587776757 17:41053127-41053127 17:42901110-42901110
17 G6PC NM_000151.4(G6PC):c.551G>A (p.Gly184Glu)SNV Pathogenic 12007 rs104894569 17:41061424-41061424 17:42909407-42909407
18 G6PC NM_000151.4(G6PC):c.562G>C (p.Gly188Arg)SNV Pathogenic 12008 rs80356482 17:41061435-41061435 17:42909418-42909418
19 G6PC NM_000151.4(G6PC):c.248G>A (p.Arg83His)SNV Pathogenic 38300 rs1801176 17:41055965-41055965 17:42903948-42903948
20 G6PC NM_000151.4(G6PC):c.497T>G (p.Val166Gly)SNV Pathogenic 12010 rs104894571 17:41061370-41061370 17:42909353-42909353
21 G6PC NM_000151.4(G6PC):c.113A>T (p.Asp38Val)SNV Pathogenic 12004 rs104894565 17:41053006-41053006 17:42900989-42900989
22 G6PC NM_000151.4(G6PC):c.79del (p.Gln27fs)deletion Pathogenic 21062 rs80356479 17:41052970-41052970 17:42900953-42900953
23 G6PC NM_000151.4(G6PC):c.1022T>A (p.Ile341Asn)SNV Pathogenic 12009 rs387906505 17:41063391-41063391 17:42911374-42911374
24 G6PC NM_000151.4(G6PC):c.562G>A (p.Gly188Ser)SNV Pathogenic 214465 rs80356482 17:41061435-41061435 17:42909418-42909418
25 G6PC NM_000151.4(G6PC):c.551G>T (p.Gly184Val)SNV Pathogenic 374125 rs104894569 17:41061424-41061424 17:42909407-42909407
26 G6PC NM_000151.4(G6PC):c.161A>C (p.Gln54Pro)SNV Pathogenic/Likely pathogenic 371101 rs1057517008 17:41053054-41053054 17:42901037-42901037
27 G6PC NM_000151.4(G6PC):c.136del (p.Leu46fs)deletion Pathogenic/Likely pathogenic 371379 rs1057517227 17:41053028-41053028 17:42901011-42901011
28 G6PC NM_000151.4(G6PC):c.150_151del (p.Trp50fs)deletion Pathogenic/Likely pathogenic 370671 rs1057516674 17:41053043-41053044 17:42901026-42901027
29 G6PC NM_000151.4(G6PC):c.370G>A (p.Ala124Thr)SNV Pathogenic/Likely pathogenic 12006 rs104894568 17:41059569-41059569 17:42907552-42907552
30 G6PC NM_000151.4(G6PC):c.189G>A (p.Trp63Ter)SNV Pathogenic/Likely pathogenic 188966 rs764920787 17:41053082-41053082 17:42901065-42901065
31 G6PC NM_000151.4(G6PC):c.969C>A (p.Tyr323Ter)SNV Pathogenic/Likely pathogenic 188777 rs780226142 17:41063338-41063338 17:42911321-42911321
32 G6PC NM_000151.4(G6PC):c.1012G>T (p.Val338Phe)SNV Pathogenic/Likely pathogenic 188945 rs367727229 17:41063381-41063381 17:42911364-42911364
33 G6PC NM_000151.4(G6PC):c.809G>T (p.Gly270Val)SNV Pathogenic/Likely pathogenic 21063 rs80356483 17:41063178-41063178 17:42911161-42911161
34 G6PC NM_000151.4(G6PC):c.724C>T (p.Gln242Ter)SNV Pathogenic/Likely pathogenic 21061 rs80356485 17:41063093-41063093 17:42911076-42911076
35 G6PC NM_000151.4(G6PC):c.648G>T (p.Leu216=)SNV Pathogenic/Likely pathogenic 12003 rs80356484 17:41063017-41063017 17:42911000-42911000
36 G6PC NM_000151.4(G6PC):c.229T>C (p.Trp77Arg)SNV Pathogenic/Likely pathogenic 12001 rs104894566 17:41053122-41053122 17:42901105-42901105
37 G6PC NM_000151.4(G6PC):c.883C>T (p.Arg295Cys)SNV Pathogenic/Likely pathogenic 11999 rs104894563 17:41063252-41063252 17:42911235-42911235
38 G6PC NM_000151.4(G6PC):c.328G>A (p.Glu110Lys)SNV Likely pathogenic 12005 rs104894567 17:41056045-41056045 17:42904028-42904028
39 G6PC NM_000151.4(G6PC):c.230+1G>CSNV Likely pathogenic 214464 rs863224023 17:41053124-41053124 17:42901107-42901107
40 G6PC NM_000151.4(G6PC):c.241G>A (p.Gly81Arg)SNV Likely pathogenic 813496 17:41055958-41055958 17:42903941-42903941
41 G6PC NM_000151.4(G6PC):c.538C>T (p.Gln180Ter)SNV Likely pathogenic 813497 17:41061411-41061411 17:42909394-42909394
42 G6PC NM_000151.4(G6PC):c.770C>A (p.Pro257His)SNV Likely pathogenic 803398 17:41063139-41063139 17:42911122-42911122
43 G6PC NM_000151.4(G6PC):c.511del (p.Ile171fs)deletion Likely pathogenic 803395 17:41061383-41061383 17:42909366-42909366
44 G6PC NM_000151.4(G6PC):c.526C>T (p.His176Tyr)SNV Likely pathogenic 803396 17:41061399-41061399 17:42909382-42909382
45 G6PC NM_000151.4(G6PC):c.1051C>T (p.Gln351Ter)SNV Likely pathogenic 869406 17:41063420-41063420 17:42911403-42911403
46 G6PC NM_000151.4(G6PC):c.446+2T>CSNV Likely pathogenic 639032 17:41059647-41059647 17:42907630-42907630
47 G6PC NM_000151.4(G6PC):c.446+1G>CSNV Likely pathogenic 656705 17:41059646-41059646 17:42907629-42907629
48 G6PC NM_000151.4(G6PC):c.323C>T (p.Thr108Ile)SNV Likely pathogenic 651731 17:41056040-41056040 17:42904023-42904023
49 G6PC NM_000151.4(G6PC):c.731G>A (p.Trp244Ter)SNV Likely pathogenic 551425 rs1555560140 17:41063100-41063100 17:42911083-42911083
50 G6PC NM_000151.4(G6PC):c.952_953insGT (p.Val318fs)insertion Likely pathogenic 556906 rs1555560185 17:41063321-41063322 17:42911304-42911305

UniProtKB/Swiss-Prot genetic disease variations for Glycogen Storage Disease Ia:

73 (show top 50) (show all 54)
# Symbol AA change Variation ID SNP ID
1 G6PC p.Asp38Val VAR_005237 rs104894565
2 G6PC p.Trp77Arg VAR_005238 rs104894566
3 G6PC p.Arg83Cys VAR_005239 rs1801175
4 G6PC p.Arg83His VAR_005240 rs1801176
5 G6PC p.Arg83Ile VAR_005241
6 G6PC p.Glu110Lys VAR_005242 rs104894567
7 G6PC p.Ala124Thr VAR_005243 rs104894568
8 G6PC p.Val166Gly VAR_005244 rs104894571
9 G6PC p.Gly184Glu VAR_005245 rs104894569
10 G6PC p.Gly188Arg VAR_005246 rs80356482
11 G6PC p.Leu211Pro VAR_005247
12 G6PC p.Gly222Arg VAR_005248 rs141039273
13 G6PC p.Gly266Val VAR_005249
14 G6PC p.Gly270Val VAR_005250 rs80356483
15 G6PC p.Arg295Cys VAR_005251 rs104894563
16 G6PC p.Val338Phe VAR_005253 rs367727229
17 G6PC p.Ile341Asn VAR_005254 rs387906505
18 G6PC p.Gln20Arg VAR_009202
19 G6PC p.Gln54Pro VAR_009203 rs105751700
20 G6PC p.Gly81Arg VAR_009204 rs756632286
21 G6PC p.Thr108Ile VAR_009205
22 G6PC p.Trp156Leu VAR_009206 rs118963073
23 G6PC p.Gly188Asp VAR_009207 rs760981149
24 G6PC p.Met5Arg VAR_046249 rs125017281
25 G6PC p.Thr16Ala VAR_046250 rs761839506
26 G6PC p.Thr16Arg VAR_046251 rs155555891
27 G6PC p.Trp63Arg VAR_046252
28 G6PC p.Ala65Pro VAR_046253
29 G6PC p.Gly68Arg VAR_046254
30 G6PC p.Lys76Asn VAR_046255
31 G6PC p.Thr111Ile VAR_046256 rs120316775
32 G6PC p.Pro113Leu VAR_046257
33 G6PC p.His119Leu VAR_046258 rs140192868
34 G6PC p.Gly122Asp VAR_046259 rs759982943
35 G6PC p.Val166Ala VAR_046260
36 G6PC p.Arg170Gln VAR_046261 rs750470654
37 G6PC p.Phe177Cys VAR_046262
38 G6PC p.Pro178Ser VAR_046263 rs763543607
39 G6PC p.His179Pro VAR_046264
40 G6PC p.Gly184Val VAR_046265 rs104894569
41 G6PC p.Gly188Ser VAR_046266 rs80356482
42 G6PC p.Tyr209Cys VAR_046268
43 G6PC p.Trp236Arg VAR_046269
44 G6PC p.Ala241Thr VAR_046270
45 G6PC p.Pro257Leu VAR_046271
46 G6PC p.Asn264Lys VAR_046272 rs155556014
47 G6PC p.Leu265Pro VAR_046273
48 G6PC p.Gly270Arg VAR_046274 rs127280348
49 G6PC p.Gly270Trp VAR_046275
50 G6PC p.Ser298Pro VAR_046276 rs770003650

Expression for Glycogen Storage Disease Ia

Search GEO for disease gene expression data for Glycogen Storage Disease Ia.

Pathways for Glycogen Storage Disease Ia

Pathways related to Glycogen Storage Disease Ia according to KEGG:

36
# Name Kegg Source Accession
1 Glycolysis / Gluconeogenesis hsa00010
2 Carbohydrate digestion and absorption hsa04973

Pathways related to Glycogen Storage Disease Ia according to GeneCards Suite gene sharing:

(show all 17)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.66 PHKA2 INS G6PC3 G6PC FBP1
2
Show member pathways
12.45 SLC37A4 PHKA2 GBE1 G6PC3 G6PC FBP1
3 12.31 INS HNF1A GCG FBP1
4
Show member pathways
12.29 LPL INS G6PC FBP1
5
Show member pathways
12.22 INS G6PC3 G6PC FBP1
6
Show member pathways
11.88 INS G6PC3 G6PC
7 11.85 LPL INS HNF1A
8
Show member pathways
11.82 INS HNF1A CLIC1
9
Show member pathways
11.75 INS G6PC3 G6PC
10
Show member pathways
11.75 SLC37A4 PHKA2 GBE1 G6PC3 G6PC FBP1
11
Show member pathways
11.65 SLC37A4 G6PC3 G6PC
12
Show member pathways
11.64 GBE1 G6PC3 G6PC AGL
13
Show member pathways
11.59 PHKA2 INS HNF1A
14 11.38 PHKA2 GCG G6PC3 G6PC FBP1
15 11.25 SLC37A4 G6PC3 G6PC
16 11.19 INS HNF1A G6PC
17 11.05 PHKA2 GBE1 AGL

GO Terms for Glycogen Storage Disease Ia

Cellular components related to Glycogen Storage Disease Ia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 secretory granule lumen GO:0034774 9.13 INS GCG AGL
2 integral component of endoplasmic reticulum membrane GO:0030176 8.92 SLC37A4 SLC37A3 SLC37A1 G6PC

Biological processes related to Glycogen Storage Disease Ia according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 carbohydrate metabolic process GO:0005975 9.78 PHKA2 INS GBE1 FBP1
2 cholesterol homeostasis GO:0042632 9.69 SLC37A4 LPL G6PC
3 glucose homeostasis GO:0042593 9.67 SLC37A4 INS HNF1A G6PC
4 response to glucose GO:0009749 9.63 SLC37A4 LPL HNF1A
5 carbohydrate transport GO:0008643 9.61 SLC37A4 SLC37A3 SLC37A1
6 triglyceride metabolic process GO:0006641 9.58 SLC37A4 LPL G6PC
7 phosphate-containing compound metabolic process GO:0006796 9.54 G6PC3 G6PC
8 glycogen biosynthetic process GO:0005978 9.52 GBE1 AGL
9 phosphate ion transmembrane transport GO:0035435 9.5 SLC37A4 SLC37A3 SLC37A1
10 glucose 6-phosphate metabolic process GO:0051156 9.49 G6PC3 G6PC
11 gluconeogenesis GO:0006094 9.46 SLC37A4 G6PC3 G6PC FBP1
12 glycogen catabolic process GO:0005980 9.43 PHKA2 G6PC AGL
13 glycogen metabolic process GO:0005977 9.35 SLC37A4 PHKA2 GBE1 G6PC AGL
14 glucose-6-phosphate transport GO:0015760 9.02 SLC37A4 SLC37A3 SLC37A1 G6PC3 G6PC

Molecular functions related to Glycogen Storage Disease Ia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transmembrane transporter activity GO:0022857 9.46 SPNS1 SLC37A4 SLC37A3 SLC37A1
2 glucose-6-phosphatase activity GO:0004346 8.96 G6PC3 G6PC
3 glucose 6-phosphate:inorganic phosphate antiporter activity GO:0061513 8.8 SLC37A4 SLC37A3 SLC37A1

Sources for Glycogen Storage Disease Ia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
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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