GSD 0
MCID: GLY023
MIFTS: 39

Glycogen Storage Disease Type 0 (GSD 0) malady

Genetic diseases, Rare diseases, Endocrine diseases, Liver diseases, Neuronal diseases, Cardiovascular diseases, Blood diseases, Muscle diseases, Nephrological diseases categories
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Summaries for Glycogen Storage Disease Type 0

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43NIH Rare Diseases, 21Genetics Home Reference, 65Wikipedia, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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: Glycogen Storage Disease Type 0, also known as glycogen storage disease type 0, liver, is related to hypoglycemia and hypoglycemia with deficiency of glycogen synthetase in the liver. 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:65 Glycogen storage disease type 0 is a disease characterized by a deficiency in the glycogen synthase... more...

Description from OMIM:47 240600

Aliases & Classifications for Glycogen Storage Disease Type 0

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43NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 47OMIM, 45Novoseek, 49Orphanet, 62UMLS, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 25ICD10
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Classifications:



Characteristics (Orphanet epidemiological data):

49
glycogen storage disease due to hepatic glycogen synthase deficiency:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Childhood


Aliases & Descriptions:

glycogen storage disease type 0 43 21
glycogen storage disease type 0, liver 43 20
liver glycogen synthase deficiency 43 45
glycogen storage disease 0, liver 47 62
glycogen synthetase deficiency 43 21
glycogen storage disease due to hepatic glycogen synthase deficiency 49
glycogen storage disease due to liver glycogen synthase deficiency 49
hypoglycemia with deficiency of glycogen synthetase 21
gsd due to hepatic glycogen synthase deficiency 49
hepatic glycogen synthase deficiency 43
glycogen storage disease type 0a 49
deficiency of citrate -synthase 62
glycogen synthase deficiency 21
glycogen storage disease 0 21
glycogen storage disease 62
glycogenosis type 0a 49
glycogenosis, type 0 43
gsd type 0a 49
gsd type 0 21
gsd 0 21


External Ids:

OMIM47 240600
ICD10 via Orphanet26 E74.0
SNOMED-CT via Orphanet59 237964009
ICD1025 E16.2

Related Diseases for Glycogen Storage Disease Type 0

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17GeneCards, 18GeneDecks
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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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47OMIM
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Symptoms by clinical synopsis from OMIM:

240600

Clinical features from OMIM:

240600

Drugs & Therapeutics for Glycogen Storage Disease Type 0

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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

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Genetic Tests for Glycogen Storage Disease Type 0

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20GeneTests
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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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33MalaCards
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MalaCards organs/tissues related to Glycogen Storage Disease Type 0:

33
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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52PubMed
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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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64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Glycogen Storage Disease Type 0:

64
id Symbol AA change Variation ID SNP ID
1GYS2p.Asn39SerVAR_007860
2GYS2p.Ala339ProVAR_007861
3GYS2p.His446AspVAR_007862
4GYS2p.Pro479GlnVAR_007863
5GYS2p.Ser483ProVAR_007864
6GYS2p.Met491ArgVAR_007865

Clinvar genetic disease variations for Glycogen Storage Disease Type 0:

1
id Gene Name 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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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Glycogen Storage Disease Type 0

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Pathways for genes affiliated with Glycogen Storage Disease Type 0

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50PathCards, 55Reactome, 30KEGG, 38NCBI BioSystems Database, 60Thomson Reuters
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Compounds for genes affiliated with Glycogen Storage Disease Type 0

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45Novoseek, 24HMDB
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Compounds related to Glycogen Storage Disease Type 0 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1amylose45 2410.4AGL, GYS2
2glucose459.3AGL, GYS2
3Uridine diphosphate glucose249.0GYG2, GYS2
4Uridine 5'-diphosphate248.7GYG2, GYS2
5glycogen45 249.4GYS2, GYG2, AGL

GO Terms for genes affiliated with Glycogen Storage Disease Type 0

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16Gene Ontology
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Cellular components related to Glycogen Storage Disease Type 0 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytosolGO:0058298.5AGL, GYG2, GYS2

Biological processes related to Glycogen Storage Disease Type 0 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1glycogen catabolic processGO:0059808.8AGL, GYG2
2glycogen biosynthetic processGO:0059788.6AGL, GYG2, GYS2
3glucose metabolic processGO:0060068.5AGL, GYG2, GYS2
4small molecule metabolic processGO:0442818.5AGL, GYG2, GYS2
5carbohydrate metabolic processGO:0059758.4GYS2, GYG2, AGL

Products for genes affiliated with Glycogen Storage Disease Type 0

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Sources for Glycogen Storage Disease Type 0

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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