GSD 0
MCID: GLY023
MIFTS: 43

Glycogen Storage Disease Type 0 (GSD 0) malady

Endocrine diseases, Metabolic diseases, Liver diseases categories

Summaries for Glycogen Storage Disease Type 0

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42NIH Rare Diseases, 21Genetics Home Reference, 63Wikipedia, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 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 glycogen storage disease and hyperglycemia. An important gene associated with Glycogen Storage Disease Type 0 is GYS2 (glycogen synthase 2 (liver)), and among its related pathways are G-AlphaQ Signaling and Insulin Signaling. The compounds glucose 6-phosphate and amylose 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...

Description from OMIM:46 240600

Aliases & Classifications for Glycogen Storage Disease Type 0

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60UMLS, 42NIH Rare Diseases, 21Genetics Home Reference, 20GeneTests, 44Novoseek, 46OMIM, 48Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 25ICD10
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Metabolic diseases
Anatomical: Endocrine diseases, Liver diseases


Characteristics (Orphanet epidemiological data):

48
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 42 21
glycogen storage disease type 0, liver 42 20
liver glycogen synthase deficiency 42 44
glycogen synthetase deficiency 42 21
glycogen storage disease due to hepatic glycogen synthase deficiency 48
glycogen storage disease due to liver glycogen synthase deficiency 48
hypoglycemia with deficiency of glycogen synthetase 21
gsd due to hepatic glycogen synthase deficiency 48
hepatic glycogen synthase deficiency 42
glycogen storage disease 0, liver 60
glycogen storage disease, type 0 46
glycogen storage disease type 0a 48
deficiency of citrate -synthase 60
glycogen synthase deficiency 21
glycogen storage disease 0 21
glycogen storage disease 60
glycogenosis, type 0 42
glycogenosis type 0a 48
gsd type 0a 48
gsd type 0 21
gsd 0 21


External Ids:

OMIM46 240600
ICD10 via Orphanet26 E74.0
SNOMED-CT via Orphanet57 237964009
ICD1025 E16.2

Related Diseases for Glycogen Storage Disease Type 0

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17GeneCards, 18GeneDecks
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Diseases in the Glycogen Storage Disease Ii family:

Glycogen Storage Disease Viii Glycogen Storage Disease Iv
Glycogen Storage Disease Vi Glycogen Storage Disease V
Glycogen Storage Disease I Glycogen Storage Disease Iii
Glycogen Storage Disease Ix Glycogen Storage Disease Xv
Glycogen Storage Disease Vii Glycogen Storage Disease
Glycogen Storage Disease Type 12 Glycogen Storage Disease Type 13
Glycogen Storage Disease Type 1a Glycogen Storage Disease Type 1b
glycogen storage disease type 0 Glycogen Storage Disease Type 14
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 0 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 140)
idRelated DiseaseScoreTop Affiliating Genes
1glycogen storage disease30.8GYS1, AGL
2hyperglycemia30.4GYS1
3hypoglycemia30.3GYS2, GYS1, AGL
4glycogen storage disease ii11.1
5glycogen storage disease iv11.1
6glycogen storage disease i11.1
7glycogen storage disease iii11.1
8glycogen storage disease v10.9
9glycogen storage disease vi10.9
10hepatitis10.9
11glycogen storage disease type 1a10.8
12adenoma10.8
13lysosomal storage disease10.7
14glycogen storage disease vii10.7
15glycogen storage disease type 1310.7
16phosphorylase kinase deficiency10.7
17danon disease10.6
18glycogen storage disease xv10.6
19hepatitis a10.6
20hepatocellular carcinoma10.6
21neutropenia10.6
22fanconi bickel syndrome10.6
23glycogen storage disease ix10.6
24hypoglycemia with deficiency of glycogen synthetase in the liver10.6
25glycogen storage disease type 1210.6
26glycogen storage disease, type ixa110.6
27muscle glycogenosis10.6
28glycogen storage disease due to phosphorylase kinase deficiency10.6
29glycogen storage disease type 0, muscle10.6
30glycogen storage disease viii10.6
31phosphoglycerate mutase deficiency10.6
32glycogen storage disease iiia10.6
33phosphorylase kinase deficiency of liver and muscle, autosomal recessive10.5
34chromosomal disease10.5
35kidney disease10.5
36neuromuscular disease10.5
37glycogen storage disease type 1b10.5
38lethal congenital glycogen storage disease of the heart10.5
39glycogen storage disease due to acid maltase deficiency, adult onset10.5
40hypertrophic cardiomyopathy10.5
41atherosclerosis10.5
42lipid storage disease10.5
43juvenile hereditary hemochromatosis10.5
44glycogen storage disease xii10.5
45glycogen storage disease due to acid maltase deficiency, juvenile onset10.5
46glycogen storage disease due to acid maltase deficiency, infantile onset10.5
47liver disease10.4
48nephrolithiasis10.4
49brain disease10.4
50hypertension10.4

Graphical network of the top 20 diseases related to Glycogen Storage Disease Type 0:



Diseases related to glycogen storage disease type 0

Clinical Features for Glycogen Storage Disease Type 0

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46OMIM
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Clinical features from OMIM:

240600

Clinical synopsis from OMIM:

240600

Drugs & Therapeutics for Glycogen Storage Disease Type 0

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Glycogen Storage Disease Type 0

Search CenterWatch for Glycogen Storage Disease Type 0

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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32MalaCards
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MalaCards organs/tissues related to Glycogen Storage Disease Type 0:

32
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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Genetic Variations for Glycogen Storage Disease Type 0

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Glycogen Storage Disease Type 0:

62
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

Expression for genes affiliated with Glycogen Storage Disease Type 0

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

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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51QIAGEN, 37NCBI BioSystems Database, 29KEGG, 12EMD Millipore, 53Reactome
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Pathways related to Glycogen Storage Disease Type 0 according to GeneCards/GeneDecks:

(show all 15)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.3GYS2, GYS1
29.3GYS1, GYS2
3
Translation Insulin regulation of translation
Hide members
9.3GYS2, GYS1
4
Hide members
9.3GYS1, GYS2
59.3GYS2, GYS1
6
Hide members
9.3GYS2, GYS1
79.3GYS2, GYS1
89.3GYS1, GYS2
9
Hide members
8.8AGL, GYS1, GYS2
10
Galactose metabolism
Hide members
8.8GYS2, GYS1, AGL
11
Hide members
8.5GYS1, GYG2, GYS2
128.0GYS2, GYG2, GYS1, AGL
13
Hide members
8.0GYS2, GYG2, GYS1, AGL
14
Hide members
8.0GYS2, GYG2, GYS1, AGL
15
Hide members
8.0GYS2, GYG2, GYS1, AGL

Compounds for genes affiliated with Glycogen Storage Disease Type 0

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44Novoseek, 24HMDB
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Compounds related to Glycogen Storage Disease Type 0 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1glucose 6-phosphate44 2410.6GYS1
2amylose44 249.8GYS2, GYS1, AGL
3glucose448.8GYS2, GYS1, AGL
4glycogen44 248.9AGL, GYS1, GYG2, GYS2

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
1inclusion bodyGO:0162349.0GYS1, AGL
2cytosolGO:0058298.0GYS2, GYG2, GYS1, AGL

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

idNameGO IDScoreTop Affiliating Genes
1glycogen catabolic processGO:0059808.8GYG2, AGL
2glycogen biosynthetic processGO:0059788.1GYS2, GYG2, GYS1, AGL
3glucose metabolic processGO:0060068.0AGL, GYS1, GYG2, GYS2
4small molecule metabolic processGO:0442818.0GYS2, GYG2, GYS1, AGL
5carbohydrate metabolic processGO:0059757.9AGL, GYS1, GYG2, GYS2

Molecular functions related to Glycogen Storage Disease Type 0 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1glycogen (starch) synthase activityGO:0043739.3GYS2, GYS1

Products for genes affiliated with Glycogen Storage Disease Type 0

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Glycogen Storage Disease Type 0

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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet