GSD1
MCID: GLY028
MIFTS: 70

Glycogen Storage Disease Type 1a (GSD1) malady

Genetic diseases, Rare diseases, Liver diseases, Nephrological diseases, Metabolic diseases, Neuronal diseases, Cardiovascular diseases, Blood diseases, Muscle diseases categories
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Summaries for Glycogen Storage Disease Type 1a

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NIH Rare Diseases:42 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 based summary: Glycogen Storage Disease Type 1a, also known as glycogen storage disease 1a, is related to glycogen storage disease and adenoma, and has symptoms including broad cheeks/cherub-like/cherubin face, storage liver disease and repeat respiratory infections. An important gene associated with Glycogen Storage Disease Type 1a is G6PC (glucose-6-phosphatase, catalytic subunit), and among its related pathways are Carbohydrate digestion and absorption and Regulation of Glucokinase by Glucokinase Regulatory Protein. 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 liver/biliary system 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...

Descriptions from OMIM:46 232200,232220,232240

Aliases & Classifications for Glycogen Storage Disease Type 1a

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Sources:
62UMLS, 42NIH Rare Diseases, 48Orphanet, 20GeneTests, 22GTR, 46OMIM, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Glycogen Storage Disease Type 1a, Aliases & Descriptions:

Name: Glycogen Storage Disease Type 1a 42 48
Glycogen Storage Disease 1a 42 20 22
Von Gierke Disease 42 48 62
Hepatorenal Form of Glycogen Storage Disease 42 62
Glucose-6-Phosphatase Deficiency 42 62
Glycogen Storage Disease Ia 46 62
Hepatorenal Glycogenosis 42 48
Glycogenosis Type Ia 48 62
Glycogenosis Type 1 42 48
Gsd Type 1 48 62
Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency Type a 48
Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency 48
Glycogenosis Due to Glucose-6-Phosphatase Deficiency Type a 48
 
Glucose-6-Phosphatase Deficiency Glycogen Storage Disease 42
Glycogen Storage Disease Due to G6p Deficiency Type a 48
Glycogen Storage Disease Due to G6p Deficiency 48
Glycogen Storage Disease Type Ia 62
Gsd Due to G6p Deficiency Type a 48
Glycogen Storage Disease Type 1 48
Glycogen Storage Disease Type I 62
Gsd Due to G6p Deficiency 48
G6p Deficiency Type a 48
G6p Deficiency 48
Gsd Type 1a 48
Gsdia 48
Gsd1 42


Classifications:



Characteristics (Orphanet epidemiological data):

48
von gierke disease:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy
glycogen storage disease type 1a:
Age of onset: Neonatal/infancy


External Ids:

ICD10 via Orphanet26 E74.0
UMLS via Orphanet63 C0017920

Related Diseases for Glycogen Storage Disease Type 1a

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Diseases in the Glycogen Storage Disease Ii family:

Glycogen Storage Disease Glycogen Storage Disease Iii
Glycogen Storage Disease I Glycogen Storage Disease V
Glycogen Storage Disease Vi Glycogen Storage Disease Viii
Glycogen Storage Disease Iv Glycogen Storage Disease Vii
Glycogen Storage Disease Ix Glycogen Storage Disease Xv
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 Glycogen Storage Disease Type 1d

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
1glycogen storage disease32.1SLC37A4, G6PC
2adenoma30.5G6PC, IGF2, IGF1
3hepatitis10.6
4hepatocellular carcinoma10.6
5glycogen storage disease type 1b10.4
6glycogen storage disease i10.4
7x-linked liver glycogenosis type 110.4
8fanconi bickel syndrome10.4
9atherosclerosis10.4
10sickle cell anemia10.4
11fructose-1,6-bisphosphatase deficiency10.4
12moyamoya disease10.4
13endotheliitis10.4
14fetal macrosomia10.3IGF2
15piebaldism10.3
16juvenile hereditary hemochromatosis10.3
17arthritis10.3
18gastric cancer10.3
19xanthomatosis10.3
20malaria, severe10.1
21familial hyperlipidemia10.1G6PC, SLC37A4
22neutropenia10.1SLC37A4, G6PC
23insulinoma10.0IGF2, G6PC
24insulin-like growth factor 1 resistance to10.0IGF1, IGF2
25laron syndrome10.0IGF1, IGF2
26growth hormone deficiency10.0IGF2, IGF1
27hyperinsulinism10.0IGF2, IGF1
28hyperandrogenism10.0IGF1, IGF2
29uterine fibroid9.9IGF2, IGF1
30acromegaly9.9IGF2, IGF1
31polycystic ovary syndrome9.9IGF2, IGF1
32metabolic syndrome x9.9SLC37A4, G6PC
33hyperglycemia9.9G6PC, IGF1
34short stature9.9IGF1, IGF2
35type 1 diabetes mellitus9.8IGF1, IGF2
36endometrial carcinoma9.8IGF2, IGF1
37insulin resistance9.8G6PC, IGF2, IGF1
38hypoglycemia9.3SLC37A4, G6PC, 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

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Symptoms by clinical synopsis from OMIM:

232200

Clinical features from OMIM:

232200,232220,232240

Symptoms:

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

HPO human phenotypes related to Glycogen Storage Disease Type 1a:

(show all 35)
id Description Frequency HPO Source Accession
1 full cheeks hallmark (90%) HP:0000293
2 seizures hallmark (90%) HP:0001250
3 muscular hypotonia hallmark (90%) HP:0001252
4 hypoglycemia hallmark (90%) HP:0001943
5 hyperuricemia hallmark (90%) HP:0002149
6 recurrent respiratory infections hallmark (90%) HP:0002205
7 abnormality of lipid metabolism hallmark (90%) HP:0003119
8 short stature hallmark (90%) HP:0004322
9 cognitive impairment hallmark (90%) HP:0100543
10 multiple lipomas occasional (7.5%) HP:0001012
11 autosomal recessive inheritance HP:0000007
12 proteinuria HP:0000093
13 focal segmental glomerulosclerosis HP:0000097
14 enlarged kidneys HP:0000105
15 doll-like facies HP:0000295
16 lipemia retinalis HP:0000660
17 nephrolithiasis HP:0000787
18 hypertension HP:0000822
19 delayed puberty HP:0000823
20 osteoporosis HP:0000939
21 xanthomatosis HP:0000991
22 hepatocellular carcinoma HP:0001402
23 protuberant abdomen HP:0001538
24 pancreatitis HP:0001733
25 abnormal bleeding HP:0001892
26 hypoglycemia HP:0001943
27 gout HP:0001997
28 hepatomegaly HP:0002240
29 intermittent diarrhea HP:0002254
30 elevated hepatic transaminases HP:0002910
31 hyperlipidemia HP:0003077
32 lactic acidosis HP:0003128
33 decreased muscle mass HP:0003199
34 short stature HP:0004322
35 decreased glomerular filtration rate HP:0012213

Drugs & Therapeutics for Glycogen Storage Disease Type 1a

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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

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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

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

32
Liver, Kidney, Small intestine, Bone marrow, Bone, Endothelial

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

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

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.8SLC37A4, G6PC, IGF2
2MP:00053678.2SLC37A4, G6PC, IGF2, IGF1
3MP:00053908.1IGF1, IGF2, G6PC, SLC37A4
4MP:00036318.1IGF1, IGF2, G6PC, SLC37A4
5MP:00053768.1SLC37A4, G6PC, IGF2, IGF1
6MP:00053787.8IGF1, IGF2, G6PC, SLC37A4

Publications for Glycogen Storage Disease Type 1a

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Articles related to Glycogen Storage Disease Type 1a:

(show top 50)    (show all 51)
idTitleAuthorsYear
1
Lessons from new mouse models of glycogen storage disease type 1a in relation to the time course and organ specificity of the disease. (25164786)
2014
2
Glycogen Storage Disease type 1a - a secondary cause for hyperlipidemia: report of five cases. (23738826)
2013
3
Effect of dietary interventions in the maintenance of normoglycaemia in glycogen storage disease type 1a: a systematic review and meta-analysis. (23294025)
2013
4
In vivo hepatic lipid quantification using MRS at 7 Tesla in a mouse model of glycogen storage disease type 1a. (23596325)
2013
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
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
10
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
11
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
12
Lack of evident atherosclerosis despite multiple risk factors in glycogen storage disease type 1a with hyperadiponectinemia. (17884452)
2007
13
Metabolic characterisation of plasma in juveniles with glycogen storage disease type 1a (GSD1a) by high-resolution (1)H NMR spectroscopy. (17149801)
2007
14
Antenatal and Intrapartum care of a pregnant woman with glycogen storage disease type 1a. (15596284)
2005
15
Association of sickle cell anemia and glycogen storage disease type 1a. (15711703)
2004
16
Hepatocyte transplantation as a treatment for glycogen storage disease type 1a. (11830200)
2002
17
The molecular basis of glycogen storage disease type 1a: structure and function analysis of mutations in glucose-6-phosphatase. (11739393)
2002
18
Increased lipogenesis and resistance of lipoproteins to oxidative modification in two patients with glycogen storage disease type 1a. (11865283)
2002
19
Adenovirus-mediated gene therapy in a mouse model of glycogen storage disease type 1a. (12373573)
2002
20
Monitoring the correction of glycogen storage disease type 1a in a mouse model using [(18)F]FDG and a dedicated animal scanner. (12106594)
2002
21
Multiple adenomas and hepatocellular carcinoma in a renal transplant patient with glycogen storage disease type 1a (von Gierke disease). (11477366)
2001
22
Molecular genetics of glycogen-storage disease type 1a in Chinese patients of Taiwan. (11161844)
2001
23
Glucose-6-phosphatase gene mutations in 20 adult Japanese patients with glycogen storage disease type 1a with reference to hepatic tumors. (11851840)
2001
24
Correction of glycogen storage disease type 1a in a mouse model by gene therapy. (10625614)
2000
25
1176C polymorphism in Japanese patients with glycogen storage disease type 1a. (10190332)
1999
26
Glycogen storage disease type 1a in three siblings with the G270V mutation. (10234610)
1999
27
Enzymatic characterization of four new mutations in the glucose-6 phosphatase (G6PC) gene which cause glycogen storage disease type 1a. (10738525)
1999
28
A new mutation of the glucose-6-phosphatase gene in a 4-year-old girl with oligosymptomatic glycogen storage disease type 1a. (9506659)
1998
29
Glucose-6-phosphatase gene (727G-->T) splicing mutation is prevalent in Hong Kong Chinese patients with glycogen storage disease type 1a. (9630072)
1998
30
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
31
A novel mutation in a Brazilian patient with glycogen storage disease type 1a. (9700613)
1998
32
Glycogen storage disease type 1a in Israel: biochemical, clinical, and mutational studies. (9332655)
1997
33
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
34
Prenatal diagnosis of glycogen storage disease type 1a by direct mutation detection. (8650119)
1996
35
Prenatal diagnosis of glycogen storage disease type 1a by single stranded conformation polymorphism (SSCP). (8905902)
1996
36
The inheritance of a novel mutation in glycogen storage disease type 1a. (8736890)
1996
37
Calcium kinetics in glycogen storage disease type 1a. (8939770)
1996
38
Case report: hepatic adenoma with bone marrow metaplasia in a patient with glycogen storage disease type 1a. (8792310)
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

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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:

6 (show all 37)
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
15G6PCNM_000151.3(G6PC): c.378_379dupAT (p.Tyr128Thrfs)duplicationPathogenicrs80356488GRCh37Chr 17, 41059579: 41059580
16G6PCNM_000151.3(G6PC): c.724C> T (p.Gln242Ter)single nucleotide variantPathogenicrs80356485GRCh37Chr 17, 41063093: 41063093
17G6PCNM_000151.3(G6PC): c.79delC (p.Gln27Argfs)deletionPathogenicrs80356479GRCh37Chr 17, 41052972: 41052972
18G6PCNM_000151.3(G6PC): c.809G> T (p.Gly270Val)single nucleotide variantPathogenicrs80356483GRCh37Chr 17, 41063178: 41063178
19G6PCNM_000151.3(G6PC): c.979_981delTTC (p.Phe327del)deletionPathogenicrs80356486GRCh37Chr 17, 41063348: 41063350
20SLC37A4NM_001164277.1(SLC37A4): c.1099G> A (p.Ala367Thr)single nucleotide variantPathogenicrs80356492GRCh37Chr 11, 118895925: 118895925
21G6PCNM_000151.3(G6PC): c.248G> A (p.Arg83His)single nucleotide variantPathogenicrs1801176GRCh37Chr 17, 41055965: 41055965
22SLC37A4NM_001164277.1(SLC37A4): c.1015G> T (p.Gly339Cys)single nucleotide variantPathogenicrs80356490GRCh37Chr 11, 118896009: 118896009
23SLC37A4NM_001164277.1(SLC37A4): c.1063G> T (p.Glu355Ter)single nucleotide variantPathogenicrs121908975GRCh37Chr 11, 118895961: 118895961
24SLC37A4NM_001164277.1(SLC37A4): c.352T> C (p.Trp118Arg)single nucleotide variantPathogenicrs80356489GRCh37Chr 11, 118898933: 118898933
25SLC37A4SLC37A4, 4-BP DEL, 2-BP INS, NT1094indelPathogenic
26SLC37A4SLC37A4, 170-BP DEL, NT148deletionPathogenic
27SLC37A4NM_001164277.1(SLC37A4): c.1042_1043delCT (p.Leu348Valfs)deletionPathogenicrs80356491GRCh37Chr 11, 118895981: 118895982
28SLC37A4SLC37A4, IVS8, 4-BP DELdeletionPathogenic
29SLC37A4NM_001164277.1(SLC37A4): c.287G> A (p.Trp96Ter)single nucleotide variantPathogenicrs121908976GRCh37Chr 11, 118898998: 118898998
30SLC37A4SLC37A4, 12-BP INS, NT1103insertionPathogenic
31SLC37A4NM_001164277.1(SLC37A4): c.703_705delGTG (p.Val236del)deletionPathogenicrs121908977GRCh37Chr 11, 118897726: 118897728
32SLC37A4SLC37A4, IVS7, G-T, +1single nucleotide variantPathogenic
33SLC37A4SLC37A4, IVS1, G-A, +1single nucleotide variantPathogenic
34SLC37A4NM_001164277.1(SLC37A4): c.83G> A (p.Arg28His)single nucleotide variantPathogenicrs121908978GRCh37Chr 11, 118899997: 118899997
35SLC37A4NM_001164277.1(SLC37A4): c.1243C> T (p.Arg415Ter)single nucleotide variantPathogenicrs121908979GRCh37Chr 11, 118895667: 118895667
36SLC37A4NM_001164277.1(SLC37A4): c.1016G> A (p.Gly339Asp)single nucleotide variantPathogenicrs121908980GRCh37Chr 11, 118896008: 118896008
37SLC37A4SLC37A4, 794G-Asingle nucleotide variantPathogenic

Expression for genes affiliated with Glycogen Storage Disease Type 1a

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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

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

(show all 16)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5SLC37A4, G6PC
2
Show member pathways
9.5SLC37A4, G6PC
3
Show member pathways
PLK2 and PLK4 events37
Polo-like kinase signaling events in the cell cycle37
9.2G6PC, IGF1
4
Show member pathways
Development Role of HDAC and calcium calmodulin dependent kinase CaMK in control of skeletal myogenesis60
9.0IGF2, IGF1
5
Show member pathways
Immune response IL 4 signaling pathway60
Signal transduction AKT signaling60
9.0IGF1, IGF2
6
Show member pathways
Apoptosis Modulation and Signaling37
Apoptosis37
9.0IGF2, IGF1
7
Show member pathways
9.0IGF2, IGF1
89.0IGF2, IGF1
9
Show member pathways
9.0IGF1, IGF2
109.0IGF2, IGF1
11
Show member pathways
9.0IGF1, IGF2
129.0IGF2, IGF1
139.0IGF2, IGF1
14
Show member pathways
glycolysis37
gluconeogenesis37
Glycolysis and Gluconeogenesis37
9.0SLC37A4, G6PC, FBP2
15
Show member pathways
9.0SLC37A4, G6PC, FBP2
16
Show member pathways
Transcription Receptor mediated HIF regulation60
Development CNTF receptor signaling60
Class IB PI3K non-lipid kinase events37
ErbB2/ErbB3 signaling events37
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
8.7IGF1, FBP2, G6PC

Compounds for genes affiliated with Glycogen Storage Disease Type 1a

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

(show all 50)
idCompoundScoreTop Affiliating Genes
1fructose-6-phosphate44 1110.9G6PC, FBP2
2fructose44 1110.9FBP2, G6PC
3phosphoenolpyruvate44 1110.9G6PC, FBP2
4uric acid44 2410.8G6PC, SLC37A4
5glucose 6-phosphate44 2410.8SLC37A4, G6PC
6lead449.7FBP2, G6PC
7phenobarbital44 28 50 1112.7G6PC, IGF2
8aicar44 24 1111.6G6PC, IGF1
9glycerol44 24 1111.6G6PC, FBP2
10starch449.5FBP2, IGF1
11pyruvate449.5G6PC, FBP2
12ag 1024449.5IGF2, IGF1
13megestrol acetate449.5IGF1, IGF2
14cetrorelix44 28 1111.5IGF1, IGF2
152,4-dinitrophenol449.5IGF1, IGF2
16pegvisomant44 1110.5IGF2, IGF1
17eb 108944 6110.4IGF2, IGF1
18estrone sulfate44 2410.4IGF2, IGF1
19bromocriptine44 28 1111.4IGF2, IGF1
20n-(4-hydroxyphenyl)retinamide449.4IGF1, IGF2
21dehydroepiandrosterone sulfate449.4IGF1, IGF2
22octreotide44 61 28 1112.4IGF2, IGF1
23c-peptide449.4IGF2, IGF1
244-hydroxytamoxifen449.4IGF1, IGF2
25triiodothyronine449.4IGF2, IGF1
26androstenedione44 2410.4IGF1, IGF2
27aprotinin44 1110.4IGF2, IGF1
28progestin449.3IGF2, IGF1
29suramin44 28 1111.3IGF2, IGF1
30estrone44 28 24 1112.3IGF2, IGF1
31adenylate449.3G6PC, FBP2, IGF2
32hydrocortisone44 2 61 1112.3IGF2, IGF1
33ibmx44 61 2811.2IGF2, IGF1
34dihydrotestosterone44 28 24 1112.2IGF1, IGF2
35glyceraldehyde 3-phosphate449.2G6PC, FBP2
36thyroxine44 2410.1IGF2, IGF1
37acth449.0IGF1, IGF2
382-deoxyglucose44 1110.0G6PC, IGF2, IGF1
39dhea449.0IGF1, IGF2, G6PC
40mannose 6-phosphate44 2410.0IGF1, IGF2, G6PC
41rapamycin449.0IGF1, IGF2, G6PC
42glutamine449.0IGF1, IGF2, G6PC
43calcitriol44 61 24 1111.9IGF2, IGF1
44steroid448.9G6PC, IGF2, IGF1
45dexamethasone44 50 28 1111.9G6PC, IGF2, IGF1
46arginine448.9IGF1, IGF2, G6PC
47glycogen44 249.8IGF2, FBP2, G6PC, SLC37A4
48lactate448.8SLC37A4, G6PC, FBP2, IGF2
49retinoic acid44 249.7IGF1, IGF2, FBP2
50glucose448.0SLC37A4, G6PC, FBP2, IGF2, IGF1

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

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

idNameGO IDScoreTop Affiliating Genes
1integral component of endoplasmic reticulum membraneGO:0301769.5SLC37A4, G6PC
2platelet alpha granule lumenGO:0310938.7IGF2, IGF1

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

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1glucose-6-phosphate transportGO:0157609.8SLC37A4, G6PC
2hexose transportGO:0086459.7SLC37A4, G6PC
3gluconeogenesisGO:0060949.7FBP2, G6PC
4glucose transportGO:0157589.7SLC37A4, G6PC
5glucose homeostasisGO:0425939.4SLC37A4, G6PC
6exocrine pancreas developmentGO:0310179.3IGF1, IGF2
7positive regulation of glycogen biosynthetic processGO:0457259.3IGF2, IGF1
8multicellular organism growthGO:0352649.3G6PC, IGF1
9positive regulation of activated T cell proliferationGO:0421049.3IGF1, IGF2
10positive regulation of mitosisGO:0458409.3IGF2, IGF1
11carbohydrate metabolic processGO:0059759.2SLC37A4, G6PC, FBP2
12positive regulation of MAPK cascadeGO:0434109.2IGF2, IGF1
13glucose metabolic processGO:0060069.1SLC37A4, FBP2, IGF2
14positive regulation of peptidyl-tyrosine phosphorylationGO:0507319.1IGF1, IGF2
15positive regulation of protein kinase B signalingGO:0518979.0IGF2, IGF1
16skeletal system developmentGO:0015019.0IGF2, IGF1
17platelet degranulationGO:0025768.7IGF2, 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

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  • Antibodies
  • Proteins
  • Lysates

Sources for Glycogen Storage Disease Type 1a

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet