MCID: GLY060
MIFTS: 60

Glycogen Storage Disease Ia malady

Genetic diseases, Rare diseases, Liver diseases, Nephrological diseases, Metabolic diseases, Neuronal diseases, Blood diseases, Endocrine diseases, Muscle diseases, Cardiovascular diseases categories

Summaries for Glycogen Storage Disease Ia

About this section


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 based summary: Glycogen Storage Disease Ia, also known as glycogen storage disease type 1, is related to glycogen storage disease and hypoglycemia, and has symptoms including full cheeks, seizures and muscular hypotonia. An important gene associated with Glycogen Storage Disease Ia is G6PC (glucose-6-phosphatase, catalytic subunit), and among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and MPS VI - Maroteaux-Lamy syndrome. The compounds uric acid and glucose 6-phosphate have been mentioned in the context of this disorder. Affiliated tissues include liver, kidney and small intestine, and related mouse phenotypes are renal/urinary system and liver/biliary system.

Disease Ontology:10 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.

Genetics Home Reference:23 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.

OMIM:47 Glycogen storage disease type I, also known as von Gierke disease, typically manifests during the first year of life... (232200) more...

Wikipedia:65 Glucose 6-phosphatase (EC 3.1.3.9, G6Pase) is an enzyme that hydrolyzes glucose-6-phosphate, resulting... more...

GeneReviews summary for gsd1

Aliases & Classifications for Glycogen Storage Disease Ia

About this section
Sources:
47OMIM, 11diseasecard, 10Disease Ontology, 23Genetics Home Reference, 21GeneReviews, 45Novoseek, 43NIH Rare Diseases, 49Orphanet, 22GeneTests, 24GTR, 57SNOMED-CT, 62UMLS, 35MeSH, 40NCIt, 28ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Glycogen Storage Disease Ia, Aliases & Descriptions:

Name: Glycogen Storage Disease Ia 47 11
Glycogen Storage Disease Type 1 43 22 49 24
Glycogen Storage Disease Type I 10 21 23 45
Von Gierke Disease 10 43 23 49
Glycogen Storage Disease 1a 43 22 24
Hepatorenal Glycogenosis 43 23 49
Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency Type a 43 49
Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency 43 49
Glycogenosis Due to Glucose-6-Phosphatase Deficiency Type a 43 49
Glycogen Storage Disease Due to G6p Deficiency Type a 43 49
Glycogen Storage Disease Due to G6p Deficiency 43 49
Hepatorenal Form of Glycogen Storage Disease 43 23
Glycogen Storage Disease Type 1a 43 49
Gsd Due to G6p Deficiency Type a 43 49
Gsd Due to G6p Deficiency 43 49
G6p Deficiency Type a 43 49
Glycogenosis Type Ia 43 49
 
Von Gierke's Disease 10 23
Glycogenosis Type 1 43 49
G6p Deficiency 43 49
Gsd Type 1a 43 49
Gsd Type 1 43 49
Gsdia 43 49
Glucose-6-Phosphatase Deficiency Glycogen Storage Disease 43
Glucose-6-Phosphate Transport Defect 23
Deficiency of Glucose-6-Phosphatase 10
Glycogen Storage Disease, Type I 10
Glucose-6-Phosphatase Deficiency 43
Glucose-6-Phosphate Deficiency 23
Glycogen Storage Disease I 10
Glycogenosis Type I 10
Gsd Type I 23
Gsd I 23
Gsd1 43


Classifications:



Characteristics (Orphanet epidemiological data):

49
glycogen storage disease type 1:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Worldwide); Age of onset: Infancy,Neonatal
glycogen storage disease due to glucose-6-phosphatase deficiency type a:
Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal


External Ids:

OMIM47 232200
Disease Ontology10 DOID:2749
MeSH35 D005953
NCIt40 C84733
Orphanet49 364, 79258
ICD10 via Orphanet28 E74.0
UMLS via Orphanet63 C0017920

Related Diseases for Glycogen Storage Disease Ia

About this section

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



Diseases related to glycogen storage disease ia

Symptoms for Glycogen Storage Disease Ia

About this section

Symptoms by clinical synopsis from OMIM:

232200

Clinical features from OMIM:

232200

Symptoms:

 49 (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 Ia:

(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 Ia

About this section

Drug clinical trials:

Search ClinicalTrials for Glycogen Storage Disease Ia

Search NIH Clinical Center for Glycogen Storage Disease Ia

Genetic Tests for Glycogen Storage Disease Ia

About this section

Genetic tests related to Glycogen Storage Disease Ia:

id Genetic test Affiliating Genes
1 Glycogen Storage Disease Type I22 SLC37A4
2 Glycogen Storage Disease Type Ia22 G6PC
3 Glycogen Storage Disease Type 1a24
4 Glycogen Storage Disease, Type I24

Anatomical Context for Glycogen Storage Disease Ia

About this section

MalaCards organs/tissues related to Glycogen Storage Disease Ia:

33
Liver, Kidney, Small intestine

Animal Models for Glycogen Storage Disease Ia or affiliated genes

About this section

MGI Mouse Phenotypes related to Glycogen Storage Disease Ia:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053679.1SLC37A4, G6PC
2MP:00053708.8SLC37A4, G6PC

Publications for Glycogen Storage Disease Ia

About this section

Articles related to Glycogen Storage Disease Ia:

(show all 13)
idTitleAuthorsYear
1
Neonatal Glycogen Storage Disease Ia. (25182376)
2014
2
A novel type heterozygous mutation in the glucose-6-phosphatase gene in a Chinese patient with glycogen storage disease Ia. (23000067)
2012
3
A detailed characterization of the adult mouse model of glycogen storage disease Ia. (19581879)
2009
4
Adiponectin levels correlate with the severity of hypertriglyceridaemia in glycogen storage disease Ia. (19267215)
2009
5
Preemptive living donor liver transplantation in glycogen storage disease Ia: case report. (18929868)
2008
6
Advanced glycation end products and the absence of premature atherosclerosis in glycogen storage disease Ia. (17570077)
2007
7
Combined liver-kidney transplantation in glycogen storage disease Ia: a case beyond the guidelines. (17457869)
2007
8
Prenatal diagnosis of glycogen storage disease Ia by screening for hot spot mutations in combination with the 1176 nucleotide polymorphism linkage analysis]. (15696478)
2005
9
Mutation frequencies for glycogen storage disease Ia in the Ashkenazi Jewish population. (15316959)
2004
10
A case of glycogen storage disease IA with multiple hepatic tumors managed by transcatheter arterial embolization and an acarbose diet. (11593132)
2001
11
Identification of a novel missense mutation (T16A) in the glucose-6- phosphatase gene in a Taiwan Chinese patient with glycogen storage disease Ia (von Gierke disease). (10738005)
2000
12
A novel missense mutation (H119L) identified in a Taiwan Chinese family with glycogen storage disease Ia (von Gierke disease). (11058910)
2000
13
Management of hepatic adenoma in glycogen storage disease Ia. (7714690)
1995

Variations for Glycogen Storage Disease Ia

About this section

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

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 Ia:

7 (show all 37)
id Gene Variation 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 Ia

About this section

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

Pathways for genes affiliated with Glycogen Storage Disease Ia

About this section

Pathways related to Glycogen Storage Disease Ia according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.1SLC37A4, G6PC
2
Show member pathways
9.1G6PC, SLC37A4
3
Show member pathways
9.1SLC37A4, G6PC
4
Show member pathways
glycolysis38
gluconeogenesis38
Glycolysis and Gluconeogenesis38
9.1G6PC, SLC37A4
59.1G6PC, SLC37A4

Compounds for genes affiliated with Glycogen Storage Disease Ia

About this section
Sources:
45Novoseek, 26HMDB
See all sources

Compounds related to Glycogen Storage Disease Ia according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1uric acid45 2610.2SLC37A4, G6PC
2glucose 6-phosphate45 2610.1SLC37A4, G6PC
3glucose459.1SLC37A4, G6PC
4glycogen45 2610.0G6PC, SLC37A4
5lactate458.8SLC37A4, G6PC

GO Terms for genes affiliated with Glycogen Storage Disease Ia

About this section

Cellular components related to Glycogen Storage Disease Ia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1endoplasmic reticulum membraneGO:00057899.1SLC37A4, G6PC
2integral component of endoplasmic reticulum membraneGO:00301768.8SLC37A4, G6PC

Biological processes related to Glycogen Storage Disease Ia according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1glucose-6-phosphate transportGO:00157609.3SLC37A4, G6PC
2hexose transportGO:00086459.2SLC37A4, G6PC
3glucose transportGO:00157589.2SLC37A4, G6PC
4glucose homeostasisGO:00425939.1G6PC, SLC37A4
5small molecule metabolic processGO:00442819.1SLC37A4, G6PC
6carbohydrate metabolic processGO:00059759.0SLC37A4, G6PC
7transmembrane transportGO:00550858.8SLC37A4, G6PC

Products for genes affiliated with Glycogen Storage Disease Ia

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Glycogen Storage Disease Ia

About this section
4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet