MCID: GLY023
MIFTS: 32

Glycogen Storage Disease Type 0 malady

Metabolic, Liver categories

Summaries for Glycogen Storage Disease Type 0

Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 64Wikipedia, 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 glycogen storage disease i. 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 heart and liver.

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:64 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

Sources:
61UMLS, 43NIH Rare Diseases, 20GeneTests, 45Novoseek, 47OMIM, 49Orphanet, 26ICD10 via Orphanet
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Classifications:

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


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
glycogen storage disease type 0, liver 43 20
liver glycogen synthase deficiency 43 45
glycogen storage disease due to hepatic glycogen synthase deficiency 49
glycogen storage disease due to liver glycogen synthase deficiency 49
gsd due to hepatic glycogen synthase deficiency 49
hepatic glycogen synthase deficiency 43
glycogen storage disease 0, liver 61
glycogen storage disease, type 0 47
glycogen storage disease type 0a 49
deficiency of citrate -synthase 61
glycogen synthetase deficiency 43
glycogen storage disease 61
glycogenosis type 0a 49
glycogenosis, type 0 43
gsd type 0a 49


External Ids:

OMIM47 240600
ICD10 via Orphanet26 E74.0

Related Diseases for Glycogen Storage Disease Type 0

Sources:
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 121)
idRelated DiseaseScoreTop Affiliating Genes
1hypoglycemia30.4GYS2, GYS1, AGL
2glycogen storage disease i11.3
3glycogen storage disease v11.1
4glycogen storage disease iv11.0
5glycogen storage disease vi11.0
6glycogen storage disease ii11.0
7glycogen storage disease iii11.0
8glycogen storage disease type 1a10.9
9adenoma10.9
10glycogen storage disease iiia10.8
11glycogen storage disease vii10.7
12hepatocellular adenoma10.7
13danon disease10.7
14phosphorylase kinase deficiency10.7
15glycogen storage disease type 1310.7
16glycogen storage disease xv10.7
17fanconi bickel syndrome10.7
18phosphorylase kinase deficiency of liver and muscle, autosomal recessive10.7
19muscle glycogenosis10.6
20lip disease10.6
21glycogen storage disease type 0, muscle10.6
22glycogen storage disease viii10.6
23glycogen storage disease type 1210.6
24glycogen storage disease, type ixa110.6
25phosphoglycerate mutase deficiency10.6
26glycogen storage disease type 1b10.5
27lethal congenital glycogen storage disease of the heart10.5
28gout10.5
29crohn's disease10.5
30hypertrophic cardiomyopathy10.5
31atherosclerosis10.5
32glycogen storage disease due to acid maltase deficiency, adult onset10.5
33nephrolithiasis10.4
34brain disease10.4
35juvenile hereditary hemochromatosis10.4
36glycogen storage disease xii10.4
37nutrition disease10.4
38glycogen storage disease due to acid maltase deficiency, juvenile onset10.4
39glycogen storage disease due to acid maltase deficiency, infantile onset10.4
40fanconi syndrome10.4
41dent's disease10.4
42glycogen storage disease type 1410.4
43glycogen storage disease iiib10.4
44glycogen storage disease ic10.4
45glycogen storage disease ixc10.4
46niemann-pick disease10.3
47biliary atresia10.3
48glycogen storage disease ix10.3
49biotin deficiency10.3
50pick's disease10.3

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

Sources:
47OMIM
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Clinical features from OMIM:

240600

Clinical synopsis from OMIM:

240600

Drugs & Therapeutics for Glycogen Storage Disease Type 0

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

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Drug clinical trials:

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Search CenterWatch for Glycogen Storage Disease Type 0

Genetic Tests for Glycogen Storage Disease Type 0

Sources:
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

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

33
Heart, Liver

Animal Models for Glycogen Storage Disease Type 0 or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Glycogen Storage Disease Type 0

Genetic Variations for Glycogen Storage Disease Type 0

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Glycogen Storage Disease Type 0:

63
id Symbol AA change Variation 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

Sources:
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

Sources:
52QIAGEN, 38NCBI BioSystems Database, 30KEGG, 12EMD Millipore, 54Reactome
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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
19.3GYS1, GYS2
29.3GYS1, GYS2
3
Translation Insulin regulation of translation
Hide members
9.3GYS1, GYS2
4
Hide members
9.3GYS2, GYS1
59.3GYS2, GYS1
6
Hide members
9.3GYS2, GYS1
79.3GYS1, GYS2
89.3GYS1, GYS2
9
Hide members
8.8AGL, GYS1, GYS2
10
Galactose metabolism
Hide members
8.8AGL, GYS2, GYS1
11
Hide members
8.5GYS2, GYS1, GYG2
12
Hide members
8.0AGL, GYS1, GYG2, GYS2
138.0GYS1, GYS2, GYG2, AGL
14
Hide members
8.0GYG2, GYS1, AGL, GYS2
15
Hide members
8.0GYS1, GYG2, GYS2, AGL

Compounds for genes affiliated with Glycogen Storage Disease Type 0

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

idCompoundScoreTop Affiliating Genes
1glucose 6-phosphate45 2410.6GYS1
2amylose45 249.8GYS2, GYS1, AGL
3glucose458.8GYS2, GYS1, AGL
4glycogen45 248.9AGL, GYS1, GYG2, GYS2

GO Terms for genes affiliated with Glycogen Storage Disease Type 0

Sources:
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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Glycogen Storage Disease Type 0

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet