GSD1
MCID: GLY028
MIFTS: 66

Glycogen Storage Disease Type 1a (GSD1) malady

Genetic diseases, Rare diseases, Liver diseases, Nephrological diseases, Neuronal diseases, Cardiovascular diseases, Blood diseases, Endocrine diseases, Muscle diseases categories
Download this MalaCard

Summaries for Glycogen Storage Disease Type 1a

About this section
Sources:
43NIH Rare Diseases, 21Genetics Home Reference, 65Wikipedia, 47OMIM, 33MalaCards
See all sources

Fully expand this MalaCard
NIH Rare Diseases:43 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.  last updated: 12/8/2010

MalaCards: Glycogen Storage Disease Type 1a, also known as glycogen storage disease 1a, is related to adenoma and glycogen storage disease, and has symptoms including xanthomas/lipomas, hyperuricemia and hyperlipidemia/hypercholesterolemia/hypertriglyceridemia. An important gene associated with Glycogen Storage Disease Type 1a is G6PC (glucose-6-phosphatase, catalytic subunit), and among its related pathways are Glycolysis and gluconeogenesis short map and MPS VI - Maroteaux-Lamy syndrome. The compounds fructose-6-phosphate and fructose have been mentioned in the context of this disorder. Affiliated tissues include liver, kidney and small intestine, and related mouse phenotypes are skeleton and renal/urinary system.

Genetics Home Reference:21 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.

Wikipedia:65 Glycogen storage disease type I (GSD I) or von Gierke\'s disease, is the most common of the glycogen... more...

Description from OMIM:47 232200,232220,232240

Aliases & Classifications for Glycogen Storage Disease Type 1a

About this section
Sources:
43NIH Rare Diseases, 49Orphanet, 62UMLS, 20GeneTests, 22GTR, 47OMIM, 59SNOMED-CT via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Classifications:



Characteristics (Orphanet epidemiological data):

49
hepatorenal glycogenosis:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy
glycogen storage disease type 1a:
Age of onset: Neonatal/infancy


Aliases & Descriptions:

glycogen storage disease type 1a 43 49
glycogen storage disease 1a 43 20 22
hepatorenal glycogenosis 43 49
glycogenosis type 1 43 49
von gierke disease 43 49
glycogen storage disease due to glucose-6-phosphatase deficiency type a 49
glycogen storage disease due to glucose-6-phosphatase deficiency 49
glycogenosis due to glucose-6-phosphatase deficiency type a 49
glucose-6-phosphatase deficiency glycogen storage disease 43
glycogen storage disease due to g6p deficiency type a 49
glycogen storage disease due to g6p deficiency 49
hepatorenal form of glycogen storage disease 43
glycogen storage disease type ia 62
glucose-6-phosphatase deficiency 43
gsd due to g6p deficiency type a 49
glycogen storage disease type 1 49
glycogen storage disease type i 62
glycogen storage disease ia 47
gsd due to g6p deficiency 49
glycogen storage disease 62
g6p deficiency type a 49
glycogenosis type ia 49
g6p deficiency 49
gsd type 1a 49
gsd type 1 49
gsdia 49
gsd1 43


External Ids:

SNOMED-CT via Orphanet59 124437004, 7265005, 444707001
ICD10 via Orphanet26 E74.0
UMLS via Orphanet63 C0017920

Related Diseases for Glycogen Storage Disease Type 1a

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Glycogen Storage Disease Ii family:

Glycogen Storage Disease Vi Glycogen Storage Disease Viii
Glycogen Storage Disease Iv Glycogen Storage Disease Iii
Glycogen Storage Disease I Glycogen Storage Disease V
Glycogen Storage Disease Vii Glycogen Storage Disease Ix
Glycogen Storage Disease Xv Glycogen Storage Disease
Glycogen Storage Disease Type 0 Glycogen Storage Disease Type 12
Glycogen Storage Disease Type 13 Glycogen Storage Disease Type 14
glycogen storage disease type 1a Glycogen Storage Disease Type 1b
Glycogen Storage Disease Iiia Glycogen Storage Disease Iiib
Glycogen Storage Disease Ic Glycogen Storage Disease Ixc
Glycogen Storage Disease Xii

Diseases related to Glycogen Storage Disease Type 1a via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 38)
idRelated DiseaseScoreTop Affiliating Genes
1adenoma30.7G6PC, IGF2, IGF1
2glycogen storage disease11.2
3hepatocellular carcinoma10.6
4hepatitis10.5
5glycogen storage disease type 1b10.4
6glycogen storage disease i10.4
7x-linked liver glycogenosis type 110.4
8sickle cell anemia10.3
9fructose-1,6-bisphosphatase deficiency10.3
10moyamoya disease10.3
11atherosclerosis10.3
12endotheliitis10.3
13piebaldism10.3
14juvenile hereditary hemochromatosis10.3
15arthritis10.2
16xanthomatosis10.2
17fanconi bickel syndrome10.2
18malaria, severe10.1
19fetal macrosomia10.1IGF2
20insulin-like growth factor 1 resistance to10.0IGF2, IGF1
21laron syndrome10.0IGF2, IGF1
22growth retardation-mild developmental delay-chronic hepatitis syndrome10.0IGF1, IGF2
23hyperglycemia10.0IGF1, G6PC
24growth hormone deficiency10.0IGF2, IGF1
25hyperinsulinism10.0IGF1, IGF2
26hyperandrogenism10.0IGF2, IGF1
27uterine fibroid10.0IGF1, IGF2
28acromegaly10.0IGF2, IGF1
29polycystic ovary syndrome10.0IGF2, IGF1
30short stature10.0IGF2, IGF1
31insulinoma10.0G6PC, IGF2
32type 1 diabetes mellitus10.0IGF1, IGF2
33endometrial carcinoma10.0IGF2, IGF1
34type 2 diabetes mellitus10.0G6PC, IGF1
35prostate cancer10.0IGF2, IGF1
36chronic kidney failure10.0IGF2, IGF1
37insulin resistance9.9G6PC, IGF2, IGF1
38hypoglycemia9.9G6PC, FBP2, IGF2, IGF1

Graphical network of the top 20 diseases related to Glycogen Storage Disease Type 1a:



Diseases related to glycogen storage disease type 1a

Symptoms for Glycogen Storage Disease Type 1a

About this section
Sources:
47OMIM, 49Orphanet
See all sources

Symptoms by clinical synopsis from OMIM:

232200

Clinical features from OMIM:

232200,232220,232240

Symptoms:

49 (show all 13)
  • xanthomas/lipomas
  • hyperuricemia
  • hyperlipidemia/hypercholesterolemia/hypertriglyceridemia
  • immunodeficiency/increased susceptibility to infections/recurrent infections
  • hypoglycemia
  • broad cheeks/cherub-like/cherubin face
  • short stature/dwarfism/nanism
  • repeat respiratory infections
  • storage liver disease
  • hypotonia
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • seizures/epilepsy/absences/spasms/status epilepticus
  • autosomal recessive inheritance

Drugs & Therapeutics for Glycogen Storage Disease Type 1a

About this section
Sources:
42NIH Clinical Center, 6ClinicalTrials
See all sources

Drug clinical trials:

Search ClinicalTrials for Glycogen Storage Disease Type 1a

Search NIH Clinical Center for Glycogen Storage Disease Type 1a

Genetic Tests for Glycogen Storage Disease Type 1a

About this section
Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Glycogen Storage Disease Type 1a:

id Genetic test Affiliating Genes
1 Glycogen Storage Disease Type Ia20 G6PC
2 Glycogen Storage Disease Type 1a22

Anatomical Context for Glycogen Storage Disease Type 1a

About this section
Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Glycogen Storage Disease Type 1a:

33
Liver, Kidney, Small intestine, Endothelial

Animal Models for Glycogen Storage Disease Type 1a or affiliated genes

About this section
Sources:
37MGI
See all sources

MGI Mouse Phenotypes related to Glycogen Storage Disease Type 1a:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053908.5G6PC, IGF2, IGF1
2MP:00053678.2G6PC, IGF2, IGF1

Publications for Glycogen Storage Disease Type 1a

About this section
Sources:
52PubMed
See all sources

Articles related to Glycogen Storage Disease Type 1a:

(show all 50)
idTitleAuthorsYear
1
Glycogen Storage Disease type 1a - a secondary cause for hyperlipidemia: report of five cases. (23738826)
2013
2
Effect of dietary interventions in the maintenance of normoglycaemia in glycogen storage disease type 1a: a systematic review and meta-analysis. (23294025)
2013
3
In vivo hepatic lipid quantification using MRS at 7 Tesla in a mouse model of glycogen storage disease type 1a. (23596325)
2013
4
Challenges in screening for hepatocellular carcinoma in the glycogen storage disease type 1a population. (22790156)
2012
5
Misdiagnosis as steatohepatitis in a family with mild glycogen storage disease type 1a. (22909800)
2012
6
Discussion regarding the method of screening for hepatocellular carcinoma in glycogen storage disease type 1a. (22790157)
2012
7
Targeted deletion of liver glucose-6 phosphatase mimics glycogen storage disease type 1a including development of multiple adenomas. (21109326)
2011
8
Abdominal imaging findings of a patient with hepatocellular carcinoma associated with glycogen storage disease type 1a. (22001457)
2011
9
Surgical treatment and perioperative management of moyamoya disease associated with glycogen storage disease Type 1a. (21194280)
2011
10
A potential role for muscle in glucose homeostasis: in vivo kinetic studies in glycogen storage disease type 1a and fructose-1,6-bisphosphatase deficiency. (20127282)
2010
11
The growth hormone-insulin-like growth factor axis in glycogen storage disease type 1: evidence of different growth patterns and insulin-like growth factor levels in patients with glycogen storage disease type 1a and 1b. (20022338)
2010
12
Increased de novo lipogenesis and delayed conversion of large VLDL into intermediate density lipoprotein particles contribute to hyperlipidemia in glycogen storage disease type 1a. (18520334)
2008
13
Lack of evident atherosclerosis despite multiple risk factors in glycogen storage disease type 1a with hyperadiponectinemia. (17884452)
2007
14
Metabolic characterisation of plasma in juveniles with glycogen storage disease type 1a (GSD1a) by high-resolution (1)H NMR spectroscopy. (17149801)
2007
15
Antenatal and Intrapartum care of a pregnant woman with glycogen storage disease type 1a. (15596284)
2005
16
Association of sickle cell anemia and glycogen storage disease type 1a. (15711703)
2004
17
Hepatocyte transplantation as a treatment for glycogen storage disease type 1a. (11830200)
2002
18
The molecular basis of glycogen storage disease type 1a: structure and function analysis of mutations in glucose-6-phosphatase. (11739393)
2002
19
Increased lipogenesis and resistance of lipoproteins to oxidative modification in two patients with glycogen storage disease type 1a. (11865283)
2002
20
Adenovirus-mediated gene therapy in a mouse model of glycogen storage disease type 1a. (12373573)
2002
21
Monitoring the correction of glycogen storage disease type 1a in a mouse model using [(18)F]FDG and a dedicated animal scanner. (12106594)
2002
22
Multiple adenomas and hepatocellular carcinoma in a renal transplant patient with glycogen storage disease type 1a (von Gierke disease). (11477366)
2001
23
Molecular genetics of glycogen-storage disease type 1a in Chinese patients of Taiwan. (11161844)
2001
24
Glucose-6-phosphatase gene mutations in 20 adult Japanese patients with glycogen storage disease type 1a with reference to hepatic tumors. (11851840)
2001
25
Correction of glycogen storage disease type 1a in a mouse model by gene therapy. (10625614)
2000
26
1176C polymorphism in Japanese patients with glycogen storage disease type 1a. (10190332)
1999
27
Glycogen storage disease type 1a in three siblings with the G270V mutation. (10234610)
1999
28
Enzymatic characterization of four new mutations in the glucose-6 phosphatase (G6PC) gene which cause glycogen storage disease type 1a. (10738525)
1999
29
A new mutation of the glucose-6-phosphatase gene in a 4-year-old girl with oligosymptomatic glycogen storage disease type 1a. (9506659)
1998
30
Glucose-6-phosphatase gene (727G-->T) splicing mutation is prevalent in Hong Kong Chinese patients with glycogen storage disease type 1a. (9630072)
1998
31
A novel DraI polymorphism in the 3' untranslated region of human glucose-6-phosphatase gene: useful for carrier detection and prenatal diagnosis of glycogen storage disease type 1a. (9712544)
1998
32
A novel mutation in a Brazilian patient with glycogen storage disease type 1a. (9700613)
1998
33
Glycogen storage disease type 1a in Israel: biochemical, clinical, and mutational studies. (9332655)
1997
34
Identification of a point mutation (G727T) in the glucose-6-phosphatase gene in Japanese patients with glycogen storage disease type 1a, and carrier screening in healthy volunteers. (9137883)
1997
35
Prenatal diagnosis of glycogen storage disease type 1a by direct mutation detection. (8650119)
1996
36
Prenatal diagnosis of glycogen storage disease type 1a by single stranded conformation polymorphism (SSCP). (8905902)
1996
37
The inheritance of a novel mutation in glycogen storage disease type 1a. (8736890)
1996
38
Calcium kinetics in glycogen storage disease type 1a. (8939770)
1996
39
Mutation analysis in 24 French patients with glycogen storage disease type 1a. (8733042)
1996
40
Characterization of the mutations in the glucose-6-phosphatase gene in Israeli patients with glycogen storage disease type 1a: R83C in six Jews and a novel V166G mutation in a Muslim Arab. (7623438)
1995
41
Genetic basis of glycogen storage disease type 1a: prevalent mutations at the glucose-6-phosphatase locus. (7573034)
1995
42
Structure-function analysis of human glucose-6-phosphatase, the enzyme deficient in glycogen storage disease type 1a. (7744838)
1995
43
Mutations in the glucose-6-phosphatase gene are associated with glycogen storage disease types 1a and 1aSP but not 1b and 1c. (7814621)
1995
44
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. (7668282)
1995
45
Identification of mutations in the gene for glucose-6-phosphatase, the enzyme deficient in glycogen storage disease type 1a. (8182131)
1994
46
Hyperlipidaemia does not impair vascular endothelial function in glycogen storage disease type 1a. (7857375)
1994
47
Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type 1a. (8211187)
1993
48
Isolation of the gene for murine glucose-6-phosphatase, the enzyme deficient in glycogen storage disease type 1A. (8407995)
1993
49
Echogenic kidneys and medullary calcium deposition in a young child with glycogen storage disease type 1a. (1594317)
1992
50
Study of liver metabolism in glucose-6-phosphatase deficiency (glycogen storage disease type 1A) by P-31 magnetic resonance spectroscopy. (3163798)
1988

Variations for Glycogen Storage Disease Type 1a

About this section
Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
See all sources

UniProtKB/Swiss-Prot genetic disease variations for Glycogen Storage Disease Type 1a:

64 (show all 54)
id Symbol AA change Variation ID SNP ID
1G6PCp.Asp38ValVAR_005237
2G6PCp.Trp77ArgVAR_005238
3G6PCp.Arg83CysVAR_005239rs1801175
4G6PCp.Arg83HisVAR_005240rs1801176
5G6PCp.Arg83IleVAR_005241
6G6PCp.Glu110LysVAR_005242
7G6PCp.Ala124ThrVAR_005243
8G6PCp.Val166GlyVAR_005244
9G6PCp.Gly184GluVAR_005245
10G6PCp.Gly188ArgVAR_005246
11G6PCp.Leu211ProVAR_005247
12G6PCp.Gly222ArgVAR_005248
13G6PCp.Gly266ValVAR_005249
14G6PCp.Gly270ValVAR_005250
15G6PCp.Arg295CysVAR_005251
16G6PCp.Val338PheVAR_005253
17G6PCp.Ile341AsnVAR_005254
18G6PCp.Gln20ArgVAR_009202
19G6PCp.Gln54ProVAR_009203
20G6PCp.Gly81ArgVAR_009204
21G6PCp.Thr108IleVAR_009205
22G6PCp.Trp156LeuVAR_009206
23G6PCp.Gly188AspVAR_009207
24G6PCp.Met5ArgVAR_046249
25G6PCp.Thr16AlaVAR_046250
26G6PCp.Thr16ArgVAR_046251
27G6PCp.Trp63ArgVAR_046252
28G6PCp.Ala65ProVAR_046253
29G6PCp.Gly68ArgVAR_046254
30G6PCp.Lys76AsnVAR_046255
31G6PCp.Thr111IleVAR_046256
32G6PCp.Pro113LeuVAR_046257
33G6PCp.His119LeuVAR_046258
34G6PCp.Gly122AspVAR_046259
35G6PCp.Val166AlaVAR_046260
36G6PCp.Arg170GlnVAR_046261
37G6PCp.Phe177CysVAR_046262
38G6PCp.Pro178SerVAR_046263
39G6PCp.His179ProVAR_046264
40G6PCp.Gly184ValVAR_046265
41G6PCp.Gly188SerVAR_046266
42G6PCp.Tyr209CysVAR_046268
43G6PCp.Trp236ArgVAR_046269
44G6PCp.Ala241ThrVAR_046270
45G6PCp.Pro257LeuVAR_046271
46G6PCp.Asn264LysVAR_046272
47G6PCp.Leu265ProVAR_046273
48G6PCp.Gly270ArgVAR_046274
49G6PCp.Gly270TrpVAR_046275
50G6PCp.Ser298ProVAR_046276
51G6PCp.Phe322LeuVAR_046277
52G6PCp.Leu345ArgVAR_046278
53G6PCp.Pro178AlaVAR_065164
54G6PCp.Thr255IleVAR_065165

Clinvar genetic disease variations for Glycogen Storage Disease Type 1a:

1 (show all 14)
id Gene Name Type Significance SNP ID Assembly Location
1G6PCNM_000151.3(G6PC): c.379_380dupTA (p.Tyr128Thrfs)duplicationPathogenicrs80356488GRCh37Chr 17, 41059579: 41059580
2G6PCNM_000151.3(G6PC): c.247C> T (p.Arg83Cys)single nucleotide variantPathogenicrs1801175GRCh37Chr 17, 41055964: 41055964
3G6PCNM_000151.3(G6PC): c.883C> T (p.Arg295Cys)single nucleotide variantPathogenicrs104894563GRCh37Chr 17, 41063252: 41063252
4G6PCNM_000151.3(G6PC): c.1039C> T (p.Gln347Ter)single nucleotide variantPathogenicrs80356487GRCh37Chr 17, 41063408: 41063408
5G6PCNM_000151.3(G6PC): c.229T> C (p.Trp77Arg)single nucleotide variantPathogenicrs104894566GRCh37Chr 17, 41053122: 41053122
6G6PCNM_000151.3(G6PC): c.230+4A> Gsingle nucleotide variantPathogenicGRCh37Chr 17, 41053127: 41053127
7G6PCNM_000151.3(G6PC): c.648G> T (p.Leu216=)single nucleotide variantPathogenicrs80356484GRCh37Chr 17, 41063017: 41063017
8G6PCNM_000151.3(G6PC): c.113A> T (p.Asp38Val)single nucleotide variantPathogenicrs104894565GRCh37Chr 17, 41053006: 41053006
9G6PCNM_000151.3(G6PC): c.328G> A (p.Glu110Lys)single nucleotide variantPathogenicrs104894567GRCh37Chr 17, 41056045: 41056045
10G6PCNM_000151.3(G6PC): c.370G> A (p.Ala124Thr)single nucleotide variantPathogenicrs104894568GRCh37Chr 17, 41059569: 41059569
11G6PCNM_000151.3(G6PC): c.551G> A (p.Gly184Glu)single nucleotide variantPathogenicrs104894569GRCh37Chr 17, 41061424: 41061424
12G6PCNM_000151.3(G6PC): c.562G> C (p.Gly188Arg)single nucleotide variantPathogenicrs80356482GRCh37Chr 17, 41061435: 41061435
13G6PCNM_000151.3(G6PC): c.1022T> A (p.Ile341Asn)single nucleotide variantPathogenicrs387906505GRCh37Chr 17, 41063391: 41063391
14G6PCNM_000151.3(G6PC): c.497T> G (p.Val166Gly)single nucleotide variantPathogenicrs104894571GRCh37Chr 17, 41061370: 41061370

Expression for genes affiliated with Glycogen Storage Disease Type 1a

About this section
Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Glycogen Storage Disease Type 1a

Search GEO for disease gene expression data for Glycogen Storage Disease Type 1a.

Pathways for genes affiliated with Glycogen Storage Disease Type 1a

About this section
Sources:
50PathCards, 60Thomson Reuters, 38NCBI BioSystems Database, 55Reactome, 30KEGG, 53QIAGEN, 12EMD Millipore
See all sources

Pathways related to Glycogen Storage Disease Type 1a according to GeneCards/GeneDecks:

(show all 16)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
glycolysis38
gluconeogenesis38
Glycolysis and Gluconeogenesis38
9.4G6PC, FBP2
2
Show member pathways
9.4G6PC, FBP2
3
Show member pathways
PLK2 and PLK4 events38
Polo-like kinase signaling events in the cell cycle38
9.1IGF1, G6PC
4
Show member pathways
Apoptosis Modulation and Signaling38
Apoptosis38
9.0IGF2, IGF1
5
Show member pathways
9.0IGF2, IGF1
69.0IGF2, IGF1
7
Show member pathways
Immune response IL 4 signaling pathway60
Signal transduction AKT signaling60
9.0IGF2, IGF1
8
Show member pathways
9.0IGF2, IGF1
99.0IGF1, IGF2
109.0IGF2, IGF1
119.0IGF2, IGF1
129.0IGF1, IGF2
13
Show member pathways
9.0IGF2, IGF1
14
Show member pathways
Development Role of HDAC and calcium calmodulin dependent kinase CaMK in control of skeletal myogenesis60
9.0IGF2, IGF1
15
Show member pathways
9.0IGF2, IGF1
16
Show member pathways
Transcription Receptor mediated HIF regulation60
Development CNTF receptor signaling60
Class IB PI3K non-lipid kinase events38
ErbB2/ErbB3 signaling events38
Development Growth hormone signaling via PI3K AKT and MAPK cascades60
Translation Regulation activity of EIF260
Regulation of lipid metabolism Insulin signaling generic cascades60
Transcription PPAR Pathway60
Cell adhesion PLAU signaling60
Translation Regulation activity of EIF4F60
8.6G6PC, FBP2, IGF1

Compounds for genes affiliated with Glycogen Storage Disease Type 1a

About this section
Sources:
45Novoseek, 11DrugBank, 29IUPHAR, 51PharmGKB, 24HMDB, 61Tocris Bioscience, 3BitterDB
See all sources

Compounds related to Glycogen Storage Disease Type 1a according to GeneCards/GeneDecks:

(show top 50)    (show all 52)
idCompoundScoreTop Affiliating Genes
1fructose-6-phosphate45 1110.9G6PC, FBP2
2fructose45 1110.8G6PC, FBP2
3phosphoenolpyruvate45 1110.8FBP2, G6PC
4lead459.7G6PC, FBP2
5phenobarbital45 29 51 1112.6IGF2, G6PC
6glycerol45 24 1111.6FBP2, G6PC
7starch459.6FBP2, IGF1
8aicar45 24 1111.5IGF1, G6PC
9ag 1024459.5IGF1, IGF2
10megestrol acetate459.5IGF1, IGF2
11cetrorelix45 29 1111.5IGF1, IGF2
122,4-dinitrophenol459.5IGF1, IGF2
13pegvisomant45 1110.5IGF2, IGF1
14eb 108945 6110.4IGF2, IGF1
15estrone sulfate45 2410.4IGF2, IGF1
16glyceraldehyde 3-phosphate459.4FBP2, G6PC
17bromocriptine45 29 1111.4IGF2, IGF1
18n-(4-hydroxyphenyl)retinamide459.4IGF1, IGF2
19dehydroepiandrosterone sulfate459.4IGF1, IGF2
20octreotide45 61 29 1112.4IGF2, IGF1
21c-peptide459.4IGF1, IGF2
224-hydroxytamoxifen459.4IGF2, IGF1
23triiodothyronine459.4IGF2, IGF1
24androstenedione45 2410.4IGF2, IGF1
25aprotinin45 1110.4IGF2, IGF1
26progestin459.3IGF1, IGF2
27pyruvate459.3G6PC, FBP2
28suramin45 29 1111.3IGF2, IGF1
29estrone45 29 24 1112.3IGF1, IGF2
30hydrocortisone45 3 61 1112.3IGF1, IGF2
31ibmx45 61 2911.3IGF2, IGF1
32glycogen45 2410.2IGF2, FBP2, G6PC
33dihydrotestosterone45 29 24 1112.2IGF2, IGF1
34lactate459.2G6PC, FBP2, IGF2
35thyroxine45 2410.2IGF2, IGF1
36adenylate459.2G6PC, FBP2, IGF2
37acth459.1IGF2, IGF1
38calcitriol45 61 24 1112.1IGF2, IGF1
39etoposide45 51 61 1112.0IGF2, IGF1
402-deoxyglucose45 1110.0G6PC, IGF2, IGF1
41dhea459.0G6PC, IGF2, IGF1
42mannose 6-phosphate45 2410.0IGF1, IGF2, G6PC
43rapamycin458.9G6PC, IGF2, IGF1
44glutamine458.9IGF1, IGF2, G6PC
45steroid458.9G6PC, IGF2, IGF1
46dexamethasone45 51 29 1111.9G6PC, IGF2, IGF1
47arginine458.9IGF1, IGF2, G6PC
48retinoic acid45 249.8FBP2, IGF2, IGF1
49gnrh458.7IGF2, IGF1
50glucose458.4G6PC, FBP2, IGF2, IGF1

GO Terms for genes affiliated with Glycogen Storage Disease Type 1a

About this section
Sources:
16Gene Ontology
See all sources

Cellular components related to Glycogen Storage Disease Type 1a according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1platelet alpha granule lumenGO:0310939.0IGF2, IGF1

Biological processes related to Glycogen Storage Disease Type 1a according to GeneCards/GeneDecks:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1gluconeogenesisGO:0060949.6G6PC, FBP2
2exocrine pancreas developmentGO:0310179.3IGF2, IGF1
3positive regulation of glycogen biosynthetic processGO:0457259.3IGF2, IGF1
4multicellular organism growthGO:0352649.3IGF1, G6PC
5positive regulation of activated T cell proliferationGO:0421049.3IGF2, IGF1
6positive regulation of mitosisGO:0458409.3IGF1, IGF2
7glucose metabolic processGO:0060069.2FBP2, IGF2
8positive regulation of MAPK cascadeGO:0434109.2IGF2, IGF1
9positive regulation of peptidyl-tyrosine phosphorylationGO:0507319.1IGF2, IGF1
10positive regulation of protein kinase B signalingGO:0518979.1IGF2, IGF1
11platelet degranulationGO:0025769.0IGF1, IGF2
12platelet activationGO:0301689.0IGF2, IGF1
13skeletal system developmentGO:0015018.7IGF2, IGF1

Molecular functions related to Glycogen Storage Disease Type 1a according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1insulin-like growth factor receptor bindingGO:0051599.0IGF2, IGF1
2growth factor activityGO:0080839.0IGF2, IGF1
3insulin receptor bindingGO:0051588.9IGF2, IGF1
4hormone activityGO:0051798.7IGF2, IGF1

Products for genes affiliated with Glycogen Storage Disease Type 1a

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Glycogen Storage Disease Type 1a

About this section
4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet