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 57 72 13
Glycogen Storage Disease Type I 12 25 43 36 54 44 70
Von Gierke Disease 57 12 73 20 43 72
Hepatorenal Form of Glycogen Storage Disease 57 20 43 72
Hepatorenal Glycogenosis 57 20 43 72
Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency Type Ia 58 29 6
Glucose-6-Phosphatase Deficiency 57 20 72
Glycogen Storage Disease, Type I 12 29 6
Glycogen Storage Disease I 57 12 15
Glucose-6-Phosphate Transport Defect 43 70
Glycogen Storage Disease Type 1a 20 58
Glycogen Storage Disease 1a 20 72
Von Gierke's Disease 12 43
Gsd1a 57 72
Gsd1 57 20
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 20
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 57
Glycogen Storage Disease Type Ia 70
Glucose-6-Phosphate Deficiency 43
G6p Deficiency Type 1a 58
Glycogenosis Type Ia 58
Glycogenosis Type I 12
Glycogenosis Type 1 20
Gsd Type 1a 58
Gsd Type I 43
Gsd Ia 57
Gsd-Ia 72
Gsd I 43
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®:

57 (Updated 05-Apr-2021)
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

MedlinePlus Genetics : 43 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 G6PC1 (Glucose-6-Phosphatase Catalytic Subunit 1), and among its related pathways/superpathways are Glycolysis / Gluconeogenesis and Carbohydrate digestion and absorption. The drugs Empagliflozin and Sodium-Glucose Transporter 2 Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include liver, kidney and bone, and related phenotypes are hypertension and hepatomegaly

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.

GARD : 20 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® : 57 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) (Updated 05-Apr-2021)

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 : 72 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 : 73 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 167)
# Related Disease Score Top Affiliating Genes
1 g6pc3 deficiency 32.9 G6PC3 G6PC1
2 fanconi-bickel syndrome 32.4 INS G6PC1
3 glycogen storage disease v 32.3 GBE1 GAA AGL
4 hyperlipoproteinemia, type v 31.5 LPL INS
5 glycogen storage disease due to glucose-6-phosphatase deficiency 31.0 SLC37A4 GAA G6PC1
6 familial hyperlipidemia 30.6 SLC37A4 LPL INS G6PC1
7 fructose-1,6-bisphosphatase deficiency 30.6 GCG G6PC1 FBP1
8 hypoglycemia 30.5 SLC37A4 INS GCG G6PC1 FBP1 AGL
9 hyperuricemia 30.4 SLC37A4 INS G6PC1
10 hepatocellular adenoma 30.4 SLC37A4 HNF1A G6PC1
11 glycogen storage disease iv 30.4 GBE1 GAA G6PC1
12 phosphorylase kinase deficiency 30.4 PHKA2 NEK3
13 abdominal obesity-metabolic syndrome 1 30.3 LPL INS GCG
14 glycogen storage disease iii 30.3 SLC37A4 GBE1 GAA G6PC1 AGL
15 hyperinsulinemic hypoglycemia 30.3 INS HNF1A GCG
16 glucose intolerance 30.2 LPL INS GCG
17 hyperinsulinism 30.2 LPL INS HNF1A GCG
18 inherited metabolic disorder 30.1 MIR142 LPL INS GCG G6PC1
19 hyperglycemia 30.1 LPL INS HNF1A GCG G6PC1
20 glycogen storage disease vi 30.0 GYG1 GBE1 G6PC1 AGL
21 carbohydrate metabolic disorder 29.6 SLC37A4 PHKA2 INS GCG GBE1 GAA
22 glycogen storage disease 29.6 SLC37A4 SLC37A1 PHKA2 NEK3 LPL INS
23 glycogen storage disease due to glucose-6-phosphatase deficiency type ib 11.5
24 glycogen storage disease ic 11.3
25 malaria 11.3
26 glycogen storage disease ixa1 11.2
27 fatty liver disease, nonalcoholic 1 10.4
28 glycogen storage disease, type ixd 10.3 PHKA2 AGL
29 glycogen storage disease ixb 10.3 PHKA2 AGL
30 glycogen storage disease type 0 10.3 GYG1 AGL
31 liver benign neoplasm 10.3 SLC37A4 HNF1A G6PC1
32 splenic flexure cancer 10.2 INS GCG
33 metabolic acidosis 10.2
34 gout 10.2
35 renal fibrosis 10.2
36 glycerol kinase deficiency 10.2 SLC37A4 SLC37A3 SLC37A1
37 postgastrectomy syndrome 10.2 INS GCG
38 hypoglycemic coma 10.2 INS GCG
39 acute insulin response 10.2 INS GCG
40 neutropenia 10.2
41 hypertriglyceridemia, familial 10.2
42 non-alcoholic fatty liver disease 10.2
43 glycogen storage disease vii 10.1 GYG1 GBE1 AGL
44 sickle cell anemia 10.1
45 alacrima, achalasia, and mental retardation syndrome 10.1
46 deficiency anemia 10.1
47 hemophagocytic lymphohistiocytosis 10.1
48 bone disease 10.1
49 viral hepatitis 10.1
50 acute pancreatitis 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 hypertension 31 HP:0000822
2 hepatomegaly 31 HP:0002240
3 short stature 31 HP:0004322
4 proteinuria 31 HP:0000093
5 delayed puberty 31 HP:0000823
6 decreased muscle mass 31 HP:0003199
7 hypoglycemia 31 HP:0001943
8 hyperuricemia 31 HP:0002149
9 osteoporosis 31 HP:0000939
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 focal segmental glomerulosclerosis 31 HP:0000097
24 decreased glomerular filtration rate 31 HP:0012213
25 lipemia retinalis 31 HP:0000660
26 doll-like facies 31 HP:0000295

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Cardiovascular Vascular:
hypertension

Growth Height:
short stature

Growth Other:
delayed puberty

Metabolic Features:
hypoglycemia

Abdomen External Features:
protuberant abdomen

Abdomen Pancreas:
pancreatitis

Head And Neck Eyes:
lipemia retinalis

Head And Neck Face:
'doll-like' facies

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 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 (Updated 05-Apr-2021)

UMLS symptoms related to Glycogen Storage Disease Ia:


intermittent diarrhea

MGI Mouse Phenotypes related to Glycogen Storage Disease Ia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.97 AGL FBP1 G6PC1 G6PC3 GAA GBE1
2 liver/biliary system MP:0005370 9.61 AGL G6PC1 GBE1 HNF1A INS LPL
3 muscle MP:0005369 9.23 AGL GAA GBE1 GYG1 HNF1A INS

Drugs & Therapeutics for Glycogen Storage Disease Ia

Drugs for Glycogen Storage Disease Ia (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 12)
# 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 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
6 A Comparison of Quality of Sleep and Quality of Life in Patients With Glycogen Storage Disease on Standard and Modified Uncooked Cornstarch Completed NCT02054832
7 Anaplerotic Therapy Using Triheptanoin for Patients With Glycogen Storage Disease Type I Recruiting NCT03665636 Early Phase 1 Triheptanoin
8 Application of Novel Techniques to Devise Nutritional Therapies in Subjects With Glycogen Storage Disease Type I Recruiting NCT03218904
9 A Novel Approach to Treatment of Hepatic Glycogen Storage Diseases: a Study Based on the Use of Uncooked Sweet Polvilho Active, not recruiting NCT03871673
10 Biomarker for Glycogen Storage Diseases - AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL Active, not recruiting NCT02385162
11 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
12 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 G6PC1
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, Bone, Neutrophil, Brain, Bone Marrow, Eye

Publications for Glycogen Storage Disease Ia

Articles related to Glycogen Storage Disease Ia:

(show top 50) (show all 390)
# Title Authors PMID Year
1
Mutation frequencies for glycogen storage disease Ia in the Ashkenazi Jewish population. 6 61 57 25
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. 57 25 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 25 57
10748407 2000
4
Mutations in the glucose-6-phosphatase gene of 53 Italian patients with glycogen storage disease type Ia. 25 6 57
10070617 1999
5
Chromosomal and genetic alterations in human hepatocellular adenomas associated with type Ia glycogen storage disease. 61 57 6
19762333 2009
6
Glycogen storage disease type I: diagnosis and phenotype/genotype correlation. 6 61 54 25
12373566 2002
7
Glycogen storage disease type 1a in Israel: biochemical, clinical, and mutational studies. 57 6 54
9332655 1997
8
Molecular prenatal diagnosis of glycogen storage disease type Ia. 6 57 54
8734807 1996
9
Regression of hepatocellular adenomas with strict dietary therapy in patients with glycogen storage disease type I. 6 25 61
25308557 2015
10
Characterization and pathogenesis of anemia in glycogen storage disease type Ia and Ib. 57 25 61
22678084 2012
11
Mutation spectrum of the glucose-6-phosphatase gene and its implication in molecular diagnosis of Korean patients with glycogen storage disease type Ia. 6 57
15151508 2004
12
Type I glycogen storage diseases: disorders of the glucose-6-phosphatase complex. 25 61 6
11949931 2002
13
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. 25 6 61
10834516 2000
14
Molecular genetic analysis of 40 patients with glycogen storage disease type Ia: 100% mutation detection rate and 5 novel mutations. 6 57
10612834 2000
15
Molecular Genetics of Type 1 Glycogen Storage Diseases. 57 6
10322403 1999
16
Mutation analysis in 24 French patients with glycogen storage disease type 1a. 57 6
8733042 1996
17
Genetic basis of glycogen storage disease type 1a: prevalent mutations at the glucose-6-phosphatase locus. 6 57
7573034 1995
18
Mutations in the glucose-6-phosphatase gene are associated with glycogen storage disease types 1a and 1aSP but not 1b and 1c. 57 6
7814621 1995
19
Identification of mutations in the gene for glucose-6-phosphatase, the enzyme deficient in glycogen storage disease type 1a. 6 57
8182131 1994
20
Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type 1a. 57 6
8211187 1993
21
Diagnosis of a novel glycogen storage disease: type 1aSP. 57 6
2172641 1990
22
Rapid screening of 12 common mutations in Turkish GSD 1a patients using electronic DNA microarray. 25 6
23352793 2013
23
Emerging therapies for glycogen storage disease type I. 6 54 61
19541498 2009
24
Mutations in the glucose-6-phosphatase-alpha (G6PC) gene that cause type Ia glycogen storage disease. 25 6
18449899 2008
25
Hepatocellular adenoma and metabolic balance in patients with type Ia glycogen storage disease. 6 61 54
18083610 2008
26
Molecular genetics of type 1 glycogen storage disease. 6 25
11386847 2001
27
Glucose-6-phosphatase mutation G188R confers an atypical glycogen storage disease type 1b phenotype. 25 6
10960498 2000
28
Glucose-6-phosphatase gene (727G-->T) splicing mutation is prevalent in Hong Kong Chinese patients with glycogen storage disease type 1a. 25 6
9630072 1998
29
Type I glycogen storage disease with vasoconstrictive pulmonary hypertension. 25 57
2109144 1990
30
Type I glycogen storage disease with focal nodular hyperplasia of the liver and vasoconstrictive pulmonary hypertension. 25 57
6928317 1980
31
Molecular diagnosis of glycogen storage disease type I: a review. 6 61
30956637 2019
32
Molecular characterization of hepatocellular adenomas developed in patients with glycogen storage disease type I. 6 61
23046672 2013
33
Bone mineral density in glycogen storage disease type Ia and Ib. 61 57
22481133 2013
34
A novel type heterozygous mutation in the glucose-6-phosphatase gene in a Chinese patient with glycogen storage disease Ia. 61 6
23000067 2012
35
Glucose-6-phosphatase deficiency. 61 6
21599942 2011
36
Glycogen Storage Disease Type I 61 6
20301489 2006
37
Hydropericardium causing sudden infant death in glycogenosis type I: osmotic injury due to percutaneous silastic catheterization. 54 6
15455297 2004
38
A novel missense mutation (H119L) identified in a Taiwan Chinese family with glycogen storage disease Ia (Von Gierke disease). 6 61
11058910 2000
39
Apolipoprotein E polymorphism and serum concentrations in patients with glycogen storage disease type Ia. 54 57
10801051 2000
40
Glycogen storage disease type 1a in three siblings with the G270V mutation. 6 54
10234610 1999
41
Two new mutations in the glucose-6-phosphatase gene cause glycogen storage disease in Hungarian patients. 6 54
9359038 1997
42
Renal complications in glycogen storage disease type I. 61 57
8319728 1993
43
Glycogen storage disease I and hepatocellular tumours. 57 61
8391447 1993
44
Hyperuricemia in glycogen storage disease type I. Contributions by hypoglycemia and hyperglucagonemia to increased urate production. 57 61
2856925 1985
45
Hemorrhagic pancreatitis in a patient with glycogen storage disease type I. 61 57
6928812 1980
46
Retinal changes in glycogen storage disease type I. 57 61
5238528 1968
47
The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease. 6
32313153 2020
48
Glycogen storage diseases: Twenty-seven new variants in a cohort of 125 patients. 6
31508908 2019
49
Late presentation of glycogen storage disease types Ia and III in children with short stature and hepatomegaly. 6
29374762 2018
50
Sleep and quality of life of patients with glycogen storage disease on standard and modified uncooked cornstarch. 57
29223626 2018

Variations for Glycogen Storage Disease Ia

ClinVar genetic disease variations for Glycogen Storage Disease Ia:

6 (show top 50) (show all 270)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 G6PC1 NM_000151.4(G6PC1):c.377_378TA[3] (p.Tyr128fs) Microsatellite Pathogenic 11997 rs80356488 GRCh37: 17:41059575-41059576
GRCh38: 17:42907558-42907559
2 G6PC1 NM_000151.4(G6PC1):c.230+4A>G SNV Pathogenic 12002 rs587776757 GRCh37: 17:41053127-41053127
GRCh38: 17:42901110-42901110
3 G6PC1 NM_000151.4(G6PC1):c.551G>A (p.Gly184Glu) SNV Pathogenic 12007 rs104894569 GRCh37: 17:41061424-41061424
GRCh38: 17:42909407-42909407
4 G6PC1 NM_000151.4(G6PC1):c.1022T>A (p.Ile341Asn) SNV Pathogenic 12009 rs387906505 GRCh37: 17:41063391-41063391
GRCh38: 17:42911374-42911374
5 G6PC1 NM_000151.4(G6PC1):c.497T>G (p.Val166Gly) SNV Pathogenic 12010 rs104894571 GRCh37: 17:41061370-41061370
GRCh38: 17:42909353-42909353
6 G6PC1 NM_000151.4(G6PC1):c.113A>T (p.Asp38Val) SNV Pathogenic 12004 rs104894565 GRCh37: 17:41053006-41053006
GRCh38: 17:42900989-42900989
7 G6PC1 NM_000151.4(G6PC1):c.79del (p.Gln27fs) Deletion Pathogenic 21062 rs80356479 GRCh37: 17:41052970-41052970
GRCh38: 17:42900953-42900953
8 G6PC1 NM_000151.4(G6PC1):c.551G>T (p.Gly184Val) SNV Pathogenic 374125 rs104894569 GRCh37: 17:41061424-41061424
GRCh38: 17:42909407-42909407
9 G6PC1 NM_000151.4(G6PC1):c.562G>A (p.Gly188Ser) SNV Pathogenic 214465 rs80356482 GRCh37: 17:41061435-41061435
GRCh38: 17:42909418-42909418
10 G6PC1 NM_000151.4(G6PC1):c.508C>T (p.Arg170Ter) SNV Pathogenic 522204 rs373345919 GRCh37: 17:41061381-41061381
GRCh38: 17:42909364-42909364
11 G6PC1 NM_000151.4(G6PC1):c.518T>C (p.Leu173Pro) SNV Pathogenic 640818 rs775826449 GRCh37: 17:41061391-41061391
GRCh38: 17:42909374-42909374
12 G6PC1 NM_000151.4(G6PC1):c.262del (p.Val88fs) Deletion Pathogenic 643470 rs755612674 GRCh37: 17:41055977-41055977
GRCh38: 17:42903960-42903960
13 G6PC1 NM_000151.4(G6PC1):c.388_400del (p.Met130fs) Deletion Pathogenic 560550 rs1567705064 GRCh37: 17:41059587-41059599
GRCh38: 17:42907570-42907582
14 G6PC1 NM_000151.4(G6PC1):c.563-3C>G SNV Pathogenic 803397 rs1597991608 GRCh37: 17:41062929-41062929
GRCh38: 17:42910912-42910912
15 G6PC1 NM_000151.4(G6PC1):c.209G>A (p.Trp70Ter) SNV Pathogenic 813495 rs1567702823 GRCh37: 17:41053102-41053102
GRCh38: 17:42901085-42901085
16 G6PC1 NC_000017.11:g.(?_42900800)_(42904229_?)del Deletion Pathogenic 831758 GRCh37: 17:41052817-41056246
GRCh38:
17 G6PC1 NM_000151.4(G6PC1):c.384C>G (p.Tyr128Ter) SNV Pathogenic 841886 GRCh37: 17:41059583-41059583
GRCh38: 17:42907566-42907566
18 G6PC1 NM_000151.4(G6PC1):c.228G>C (p.Lys76Asn) SNV Pathogenic 855275 GRCh37: 17:41053121-41053121
GRCh38: 17:42901104-42901104
19 G6PC1 NM_000151.4(G6PC1):c.356A>T (p.His119Leu) SNV Pathogenic 863144 GRCh37: 17:41059555-41059555
GRCh38: 17:42907538-42907538
20 G6PC1 NM_000151.4(G6PC1):c.509G>A (p.Arg170Gln) SNV Pathogenic 929150 GRCh37: 17:41061382-41061382
GRCh38: 17:42909365-42909365
21 G6PC1 NM_000151.4(G6PC1):c.310C>T (p.Gln104Ter) SNV Pathogenic 948256 GRCh37: 17:41056027-41056027
GRCh38: 17:42904010-42904010
22 GAA NM_000152.5(GAA):c.1657C>T (p.Gln553Ter) SNV Pathogenic 982109 GRCh37: 17:78085802-78085802
GRCh38: 17:80112003-80112003
23 G6PC1 NM_000151.4(G6PC1):c.355C>G (p.His119Asp) SNV Pathogenic 997953 GRCh37: 17:41059554-41059554
GRCh38: 17:42907537-42907537
24 G6PC1 NM_000151.4(G6PC1):c.468G>A (p.Trp156Ter) SNV Pathogenic 997954 GRCh37: 17:41061341-41061341
GRCh38: 17:42909324-42909324
25 G6PC1 NM_000151.4(G6PC1):c.208del (p.Trp70fs) Deletion Pathogenic 997956 GRCh37: 17:41053101-41053101
GRCh38: 17:42901084-42901084
26 G6PC1 NM_000151.4(G6PC1):c.550G>T (p.Gly184Ter) SNV Pathogenic 997961 GRCh37: 17:41061423-41061423
GRCh38: 17:42909406-42909406
27 G6PC1 NM_000151.4(G6PC1):c.664G>A (p.Gly222Arg) SNV Pathogenic 961497 GRCh37: 17:41063033-41063033
GRCh38: 17:42911016-42911016
28 G6PC1 NM_000151.4(G6PC1):c.388_389delinsTA (p.Met130Ter) Indel Pathogenic 965343 GRCh37: 17:41059587-41059588
GRCh38: 17:42907570-42907571
29 G6PC1 NM_000151.4(G6PC1):c.247C>T (p.Arg83Cys) SNV Pathogenic 11998 rs1801175 GRCh37: 17:41055964-41055964
GRCh38: 17:42903947-42903947
30 G6PC1 NM_000151.4(G6PC1):c.1039C>T (p.Gln347Ter) SNV Pathogenic 12000 rs80356487 GRCh37: 17:41063408-41063408
GRCh38: 17:42911391-42911391
31 G6PC1 NM_000151.4(G6PC1):c.562G>C (p.Gly188Arg) SNV Pathogenic 12008 rs80356482 GRCh37: 17:41061435-41061435
GRCh38: 17:42909418-42909418
32 G6PC1 NM_000151.4(G6PC1):c.248G>A (p.Arg83His) SNV Pathogenic 38300 rs1801176 GRCh37: 17:41055965-41055965
GRCh38: 17:42903948-42903948
33 G6PC1 NM_000151.4(G6PC1):c.255C>A (p.Tyr85Ter) SNV Pathogenic 543553 rs748363083 GRCh37: 17:41055972-41055972
GRCh38: 17:42903955-42903955
34 G6PC1 NM_000151.4(G6PC1):c.969C>A (p.Tyr323Ter) SNV Pathogenic/Likely pathogenic 188777 rs780226142 GRCh37: 17:41063338-41063338
GRCh38: 17:42911321-42911321
35 G6PC1 NM_000151.4(G6PC1):c.516C>A (p.Tyr172Ter) SNV Pathogenic/Likely pathogenic 558339 rs1555559991 GRCh37: 17:41061389-41061389
GRCh38: 17:42909372-42909372
36 G6PC1 NM_000151.4(G6PC1):c.161A>C (p.Gln54Pro) SNV Pathogenic/Likely pathogenic 371101 rs1057517008 GRCh37: 17:41053054-41053054
GRCh38: 17:42901037-42901037
37 G6PC1 NM_000151.4(G6PC1):c.136del (p.Leu46fs) Deletion Pathogenic/Likely pathogenic 371379 rs1057517227 GRCh37: 17:41053028-41053028
GRCh38: 17:42901011-42901011
38 G6PC1 NM_000151.4(G6PC1):c.150_151del (p.Trp50fs) Deletion Pathogenic/Likely pathogenic 370671 rs1057516674 GRCh37: 17:41053043-41053044
GRCh38: 17:42901026-42901027
39 G6PC1 NM_000151.4(G6PC1):c.980_982del (p.Phe327del) Deletion Pathogenic/Likely pathogenic 371388 rs80356486 GRCh37: 17:41063347-41063349
GRCh38: 17:42911330-42911332
40 G6PC1 NM_000151.4(G6PC1):c.724C>T (p.Gln242Ter) SNV Pathogenic/Likely pathogenic 21061 rs80356485 GRCh37: 17:41063093-41063093
GRCh38: 17:42911076-42911076
41 G6PC1 NM_000151.4(G6PC1):c.809G>T (p.Gly270Val) SNV Pathogenic/Likely pathogenic 21063 rs80356483 GRCh37: 17:41063178-41063178
GRCh38: 17:42911161-42911161
42 G6PC1 NM_000151.4(G6PC1):c.328G>A (p.Glu110Lys) SNV Pathogenic/Likely pathogenic 12005 rs104894567 GRCh37: 17:41056045-41056045
GRCh38: 17:42904028-42904028
43 G6PC1 NM_000151.4(G6PC1):c.370G>A (p.Ala124Thr) SNV Pathogenic/Likely pathogenic 12006 rs104894568 GRCh37: 17:41059569-41059569
GRCh38: 17:42907552-42907552
44 G6PC1 NM_000151.4(G6PC1):c.1012G>T (p.Val338Phe) SNV Pathogenic/Likely pathogenic 188945 rs367727229 GRCh37: 17:41063381-41063381
GRCh38: 17:42911364-42911364
45 G6PC1 NM_000151.4(G6PC1):c.189G>A (p.Trp63Ter) SNV Pathogenic/Likely pathogenic 188966 rs764920787 GRCh37: 17:41053082-41053082
GRCh38: 17:42901065-42901065
46 G6PC1 NM_000151.4(G6PC1):c.648G>T (p.Leu216=) SNV Pathogenic/Likely pathogenic 12003 rs80356484 GRCh37: 17:41063017-41063017
GRCh38: 17:42911000-42911000
47 G6PC1 NM_000151.4(G6PC1):c.883C>T (p.Arg295Cys) SNV Pathogenic/Likely pathogenic 11999 rs104894563 GRCh37: 17:41063252-41063252
GRCh38: 17:42911235-42911235
48 G6PC1 NM_000151.4(G6PC1):c.229T>C (p.Trp77Arg) SNV Pathogenic/Likely pathogenic 12001 rs104894566 GRCh37: 17:41053122-41053122
GRCh38: 17:42901105-42901105
49 G6PC1 NM_000151.4(G6PC1):c.79C>T (p.Gln27Ter) SNV Likely pathogenic 370273 rs1057516367 GRCh37: 17:41052972-41052972
GRCh38: 17:42900955-42900955
50 G6PC1 NM_000151.4(G6PC1):c.798del (p.Thr267fs) Deletion Likely pathogenic 371652 rs749323139 GRCh37: 17:41063167-41063167
GRCh38: 17:42911150-42911150

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

72 (show top 50) (show all 54)
# Symbol AA change Variation ID SNP ID
1 G6PC1 p.Asp38Val VAR_005237 rs104894565
2 G6PC1 p.Trp77Arg VAR_005238 rs104894566
3 G6PC1 p.Arg83Cys VAR_005239 rs1801175
4 G6PC1 p.Arg83His VAR_005240 rs1801176
5 G6PC1 p.Arg83Ile VAR_005241
6 G6PC1 p.Glu110Lys VAR_005242 rs104894567
7 G6PC1 p.Ala124Thr VAR_005243 rs104894568
8 G6PC1 p.Val166Gly VAR_005244 rs104894571
9 G6PC1 p.Gly184Glu VAR_005245 rs104894569
10 G6PC1 p.Gly188Arg VAR_005246 rs80356482
11 G6PC1 p.Leu211Pro VAR_005247
12 G6PC1 p.Gly222Arg VAR_005248 rs141039273
13 G6PC1 p.Gly266Val VAR_005249
14 G6PC1 p.Gly270Val VAR_005250 rs80356483
15 G6PC1 p.Arg295Cys VAR_005251 rs104894563
16 G6PC1 p.Val338Phe VAR_005253 rs367727229
17 G6PC1 p.Ile341Asn VAR_005254 rs387906505
18 G6PC1 p.Gln20Arg VAR_009202
19 G6PC1 p.Gln54Pro VAR_009203 rs105751700
20 G6PC1 p.Gly81Arg VAR_009204 rs756632286
21 G6PC1 p.Thr108Ile VAR_009205
22 G6PC1 p.Trp156Leu VAR_009206 rs118963073
23 G6PC1 p.Gly188Asp VAR_009207 rs760981149
24 G6PC1 p.Met5Arg VAR_046249 rs125017281
25 G6PC1 p.Thr16Ala VAR_046250 rs761839506
26 G6PC1 p.Thr16Arg VAR_046251 rs155555891
27 G6PC1 p.Trp63Arg VAR_046252
28 G6PC1 p.Ala65Pro VAR_046253
29 G6PC1 p.Gly68Arg VAR_046254 rs156770281
30 G6PC1 p.Lys76Asn VAR_046255
31 G6PC1 p.Thr111Ile VAR_046256 rs120316775
32 G6PC1 p.Pro113Leu VAR_046257
33 G6PC1 p.His119Leu VAR_046258 rs140192868
34 G6PC1 p.Gly122Asp VAR_046259 rs759982943
35 G6PC1 p.Val166Ala VAR_046260 rs104894571
36 G6PC1 p.Arg170Gln VAR_046261 rs750470654
37 G6PC1 p.Phe177Cys VAR_046262
38 G6PC1 p.Pro178Ser VAR_046263 rs763543607
39 G6PC1 p.His179Pro VAR_046264
40 G6PC1 p.Gly184Val VAR_046265 rs104894569
41 G6PC1 p.Gly188Ser VAR_046266 rs80356482
42 G6PC1 p.Tyr209Cys VAR_046268
43 G6PC1 p.Trp236Arg VAR_046269
44 G6PC1 p.Ala241Thr VAR_046270
45 G6PC1 p.Pro257Leu VAR_046271
46 G6PC1 p.Asn264Lys VAR_046272 rs155556014
47 G6PC1 p.Leu265Pro VAR_046273
48 G6PC1 p.Gly270Arg VAR_046274 rs127280348
49 G6PC1 p.Gly270Trp VAR_046275
50 G6PC1 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 18)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.83 SLC37A4 PHKA2 NCOA3 LPL INS GYG1
2
Show member pathways
12.71 PHKA2 INS G6PC3 G6PC1 FBP1
3
Show member pathways
12.36 SLC37A4 PHKA2 GYG1 GBE1 GAA G6PC3
4 12.34 INS HNF1A GCG FBP1
5
Show member pathways
12.28 LPL INS GYG1 G6PC1 FBP1
6
Show member pathways
12.27 INS G6PC3 G6PC1 FBP1
7
Show member pathways
11.91 SLC37A4 PHKA2 GYG1 GBE1 GAA G6PC3
8
Show member pathways
11.89 INS G6PC3 G6PC1
9 11.86 LPL INS HNF1A
10
Show member pathways
11.78 INS G6PC3 G6PC1
11
Show member pathways
11.72 GYG1 GBE1 GAA G6PC3 G6PC1 AGL
12
Show member pathways
11.7 SLC37A4 G6PC3 G6PC1
13 11.68 PHKA2 GCG G6PC3 G6PC1 FBP1
14
Show member pathways
11.65 PHKA2 INS HNF1A
15 11.33 SLC37A4 G6PC3 G6PC1
16
Show member pathways
11.3 NCOA3 INS GCG
17 11.25 INS HNF1A G6PC1
18 11.18 PHKA2 GYG1 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 integral component of endoplasmic reticulum membrane GO:0030176 9.26 SLC37A4 SLC37A3 SLC37A1 G6PC1
2 secretory granule lumen GO:0034774 8.92 INS GYG1 GCG AGL

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 carbohydrate metabolic process GO:0005975 9.8 PHKA2 INS GBE1 GAA FBP1 AGL
2 cholesterol homeostasis GO:0042632 9.71 SLC37A4 LPL G6PC1
3 response to glucose GO:0009749 9.69 SLC37A4 LPL HNF1A
4 glucose metabolic process GO:0006006 9.67 SLC37A4 INS GAA
5 gluconeogenesis GO:0006094 9.67 SLC37A4 G6PC3 G6PC1 FBP1
6 carbohydrate transport GO:0008643 9.65 SLC37A4 SLC37A3 SLC37A1
7 glucose homeostasis GO:0042593 9.65 SLC37A4 INS HNF1A GCG G6PC1
8 triglyceride metabolic process GO:0006641 9.63 SLC37A4 LPL G6PC1
9 glycogen biosynthetic process GO:0005978 9.61 GYG1 GBE1 AGL
10 phosphate ion transmembrane transport GO:0035435 9.58 SLC37A4 SLC37A3 SLC37A1
11 phosphate-containing compound metabolic process GO:0006796 9.55 G6PC3 G6PC1
12 glucose 6-phosphate metabolic process GO:0051156 9.52 G6PC3 G6PC1
13 glycogen catabolic process GO:0005980 9.46 PHKA2 GAA G6PC1 AGL
14 glycogen metabolic process GO:0005977 9.43 SLC37A4 PHKA2 GBE1 GAA G6PC1 AGL
15 glucose-6-phosphate transport GO:0015760 9.02 SLC37A4 SLC37A3 SLC37A1 G6PC3 G6PC1

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

# Name GO ID Score Top Affiliating Genes
1 catalytic activity GO:0003824 9.55 PHKA2 GBE1 GAA FBP1 AGL
2 glucose-6-phosphatase activity GO:0004346 8.96 G6PC3 G6PC1
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
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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