MCID: GLY023
MIFTS: 32

Glycogen Storage Disease Type 0 malady

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

Summaries for Glycogen Storage Disease Type 0

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NIH Rare Diseases:41 Glycogen storage disease type 0 (gsd0), a form of glycogen storage disease (gsd), is a rare abnormality of glycogen metabolism (how the body uses and stores glycogen, the storage form of glucose). unlike other types of gsd, gsd0 does not involve excessive or abnormal glycogen storage, and causes moderately decreased glycogen stores in the liver. symptoms typically begin in infancy or in early childhood and may include drowsiness, sweating, lack of attention, fasting hypoglycemia associated with hyperketonemia, seizures, and other findings. it is caused by a deficiency of the enzyme glycogen synthetase in the liver, due to mutations in the gys2 gene. it is inherited in an autosomal recessive manner. treatment involves a specific diet that includes frequent meals with high protein intake during the day, and uncooked starch in the evening. the prognosis is usually favorable when the disease is correctly managed. this condition differs from another form of gsd0 which chiefly affects the muscles and heart (glycogen storage disease type 0, muscle) and is thought to be caused by mutations in the gys1 gene. last updated: 2/23/2011

MalaCards based summary: Glycogen Storage Disease Type 0, also known as glycogen storage disease due to hepatic glycogen synthase deficiency, is related to hypoglycemia and glycogen storage disease. An important gene associated with Glycogen Storage Disease Type 0 is GYS2 (glycogen synthase 2 (liver)), and among its related pathways are Glucuronidation and Metabolism. The compounds amylose and glucose have been mentioned in the context of this disorder. Affiliated tissues include liver and heart.

Genetics Home Reference:21 Glycogen storage disease type 0 (also known as GSD 0) is a condition caused by the body's inability to form a complex sugar called glycogen, which is a major source of stored energy in the body. GSD 0 has two types: in muscle GSD 0, glycogen formation in the muscles is impaired, and in liver GSD 0, glycogen formation in the liver is impaired.

Wikipedia:63 Glycogen storage disease type 0 is a disease characterized by a deficiency in the glycogen synthase... more...

Aliases & Classifications for Glycogen Storage Disease Type 0

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Sources:
41NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 43Novoseek, 47Orphanet, 60UMLS, 26ICD10 via Orphanet, 25ICD10
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Glycogen Storage Disease Type 0, Aliases & Descriptions:

Name: Glycogen Storage Disease Type 0 41 21
Glycogen Storage Disease Due to Hepatic Glycogen Synthase Deficiency 41 47
Glycogen Storage Disease Due to Liver Glycogen Synthase Deficiency 41 47
Gsd Due to Hepatic Glycogen Synthase Deficiency 41 47
Glycogen Storage Disease Type 0, Liver 41 20
Liver Glycogen Synthase Deficiency 41 43
Glycogen Storage Disease Type 0a 41 47
Glycogen Synthetase Deficiency 41 21
Glycogen Synthase Deficiency 21 60
 
Glycogenosis Type 0a 41 47
Gsd Type 0a 41 47
Hypoglycemia with Deficiency of Glycogen Synthetase 21
Hepatic Glycogen Synthase Deficiency 41
Glycogen Storage Disease 0, Liver 60
Glycogen Storage Disease 0 21
Glycogenosis, Type 0 41
Gsd Type 0 21
Gsd 0 21


Classifications:



Characteristics (Orphanet epidemiological data):

47
glycogen storage disease due to hepatic glycogen synthase deficiency:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood


External Ids:

Orphanet47 2089
ICD10 via Orphanet26 E74.0
ICD1025 E16.2

Related Diseases for Glycogen Storage Disease Type 0

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Graphical network of diseases related to Glycogen Storage Disease Type 0:



Diseases related to glycogen storage disease type 0

Symptoms for Glycogen Storage Disease Type 0

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Drugs & Therapeutics for Glycogen Storage Disease Type 0

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Drug clinical trials:

Search ClinicalTrials for Glycogen Storage Disease Type 0

Search NIH Clinical Center for Glycogen Storage Disease Type 0

Genetic Tests for Glycogen Storage Disease Type 0

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Genetic tests related to Glycogen Storage Disease Type 0:

id Genetic test Affiliating Genes
1 Glycogen Storage Disease Type 0, Liver20 GYS2

Anatomical Context for Glycogen Storage Disease Type 0

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MalaCards organs/tissues related to Glycogen Storage Disease Type 0:

31
Liver, Heart

Animal Models for Glycogen Storage Disease Type 0 or affiliated genes

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Publications for Glycogen Storage Disease Type 0

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Articles related to Glycogen Storage Disease Type 0:

idTitleAuthorsYear
1
A novel mutation in the glycogen synthase 2 gene in a child with glycogen storage disease type 0. (20051115)
2010
2
Low level of fasting plasma mannose in a child with glycogen storage disease type 0 (liver glycogen synthase deficiency). (20331987)
2010
3
Glycogen synthase deficiency (glycogen storage disease type 0) presenting with hyperglycemia and glucosuria: report of three new mutations. (12072888)
2002
4
Mutations in the liver glycogen synthase gene in children with hypoglycemia due to glycogen storage disease type 0. (9691087)
1998

Variations for Glycogen Storage Disease Type 0

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Clinvar genetic disease variations for Glycogen Storage Disease Type 0:

6
id Gene Variation Type Significance SNP ID Assembly Location
1GYS2NM_021957.3(GYS2): c.736C> T (p.Arg246Ter)single nucleotide variantPathogenicrs121918419GRCh37Chr 12, 21721886: 21721886
2GYS2NM_021957.3(GYS2): c.941+1G> Csingle nucleotide variantPathogenicGRCh37Chr 12, 21716161: 21716161
3GYS2NM_021957.3(GYS2): c.1436C> A (p.Pro479Gln)single nucleotide variantPathogenicrs121918420GRCh37Chr 12, 21699391: 21699391
4GYS2NM_021957.3(GYS2): c.1015G> C (p.Ala339Pro)single nucleotide variantPathogenicrs121918421GRCh37Chr 12, 21715899: 21715899
5GYS2NM_021957.3(GYS2): c.1472T> G (p.Met491Arg)single nucleotide variantPathogenicrs121918422GRCh37Chr 12, 21699355: 21699355
6GYS2NM_021957.3(GYS2): c.116A> G (p.Asn39Ser)single nucleotide variantPathogenicrs121918423GRCh37Chr 12, 21757411: 21757411
7GYS2NM_021957.3(GYS2): c.1447T> C (p.Ser483Pro)single nucleotide variantPathogenicrs121918424GRCh37Chr 12, 21699380: 21699380
8GYS2NM_021957.3(GYS2): c.1336C> G (p.His446Asp)single nucleotide variantPathogenicrs121918425GRCh37Chr 12, 21711220: 21711220

Expression for genes affiliated with Glycogen Storage Disease Type 0

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Search GEO for disease gene expression data for Glycogen Storage Disease Type 0.

Pathways for genes affiliated with Glycogen Storage Disease Type 0

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Compounds for genes affiliated with Glycogen Storage Disease Type 0

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Sources:
43Novoseek, 24HMDB
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Compounds related to Glycogen Storage Disease Type 0 according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1amylose43 2410.4AGL, GYS2
2glucose439.3AGL, GYS2
3Uridine diphosphate glucose249.0GYG2, GYS2
4Uridine 5'-diphosphate248.7GYG2, GYS2
5glycogen43 249.4GYS2, GYG2, AGL

GO Terms for genes affiliated with Glycogen Storage Disease Type 0

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Cellular components related to Glycogen Storage Disease Type 0 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cytosolGO:00058298.5AGL, GYG2, GYS2

Biological processes related to Glycogen Storage Disease Type 0 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1glycogen catabolic processGO:00059808.8AGL, GYG2
2glycogen biosynthetic processGO:00059788.6AGL, GYG2, GYS2
3glucose metabolic processGO:00060068.5AGL, GYG2, GYS2
4small molecule metabolic processGO:00442818.5AGL, GYG2, GYS2
5carbohydrate metabolic processGO:00059758.4GYS2, GYG2, AGL

Products for genes affiliated with Glycogen Storage Disease Type 0

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Glycogen Storage Disease Type 0

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet