GSD 0
MCID: GLY023
MIFTS: 27

Glycogen Storage Disease Type 0 (GSD 0)

Categories: Blood diseases, Cardiovascular diseases, Genetic diseases, Liver diseases, Metabolic diseases, Muscle diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Glycogen Storage Disease Type 0

MalaCards integrated aliases for Glycogen Storage Disease Type 0:

Name: Glycogen Storage Disease Type 0 25
Glycogen Synthase Deficiency 25 72
Hypoglycemia with Deficiency of Glycogen Synthetase 25
Glycogen Synthetase Deficiency 25
Glycogen Storage Disease 0 25
Gsd Type 0 25
Gsd 0 25

Classifications:



External Ids:

UMLS 72 C0342748

Summaries for Glycogen Storage Disease Type 0

Genetics Home Reference : 25 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. The signs and symptoms of muscle GSD 0 typically begin in early childhood. Affected individuals often experience muscle pain and weakness or episodes of fainting (syncope) following moderate physical activity, such as walking up stairs. The loss of consciousness that occurs with fainting typically lasts up to several hours. Some individuals with muscle GSD 0 have a disruption of the heart's normal rhythm (arrhythmia) known as long QT syndrome. In all affected individuals, muscle GSD 0 impairs the heart's ability to effectively pump blood and increases the risk of cardiac arrest and sudden death, particularly after physical activity. Sudden death from cardiac arrest can occur in childhood or adolescence in people with muscle GSD 0. Individuals with liver GSD 0 usually show signs and symptoms of the disorder in infancy. People with this disorder develop low blood sugar (hypoglycemia) after going long periods of time without food (fasting). Signs of hypoglycemia become apparent when affected infants begin sleeping through the night and stop late-night feedings; these infants exhibit extreme tiredness (lethargy), pale skin (pallor), and nausea. During episodes of fasting, ketone levels in the blood may increase (ketosis). Ketones are molecules produced during the breakdown of fats, which occurs when stored sugars (such as glycogen) are unavailable. These short-term signs and symptoms of liver GSD 0 often improve when food is eaten and sugar levels in the body return to normal. The features of liver GSD 0 vary; they can be mild and go unnoticed for years, or they can include developmental delay and growth failure.

MalaCards based summary : Glycogen Storage Disease Type 0, also known as glycogen synthase deficiency, is related to fasting hypoglycemia and hypoglycemia. An important gene associated with Glycogen Storage Disease Type 0 is GYS2 (Glycogen Synthase 2), and among its related pathways/superpathways are Metabolism and HIV Life Cycle. Affiliated tissues include liver and skin.

Related Diseases for Glycogen Storage Disease Type 0

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



Diseases related to Glycogen Storage Disease Type 0

Symptoms & Phenotypes for Glycogen Storage Disease Type 0

Drugs & Therapeutics for Glycogen Storage Disease Type 0

Search Clinical Trials , NIH Clinical Center for Glycogen Storage Disease Type 0

Genetic Tests for Glycogen Storage Disease Type 0

Anatomical Context for Glycogen Storage Disease Type 0

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

41
Liver, Skin

Publications for Glycogen Storage Disease Type 0

Articles related to Glycogen Storage Disease Type 0:

(show all 20)
# Title Authors PMID Year
1
Beyond the panel: preconception screening in consanguineous couples using the TruSight One "clinical exome". 38
29961766 2019
2
Glycogen storage disease type 0 due to a novel frameshift mutation in glycogen synthase 2 (GYS2) gene in a child presenting with fasting hypoglycemia and postprandial hyperglycemia. 38
30968641 2018
3
The variable clinical phenotype of three patients with hepatic glycogen synthase deficiency. 38
28245189 2017
4
Pediatric patient with hyperketotic hypoglycemia diagnosed with glycogen synthase deficiency due to the novel homozygous mutation in GYS2. 38
26937415 2015
5
Investigation and management of the hepatic glycogen storage diseases. 38
26835382 2015
6
Mutational analysis of the GYS2 gene in patients diagnosed with ketotic hypoglycaemia. 38
23426827 2012
7
Low level of fasting plasma mannose in a child with glycogen storage disease type 0 (liver glycogen synthase deficiency). 38
20331987 2010
8
Impaired glucose tolerance and predisposition to the fasted state in liver glycogen synthase knock-out mice. 38
20178984 2010
9
A novel mutation in the glycogen synthase 2 gene in a child with glycogen storage disease type 0. 38
20051115 2010
10
Identification of a novel mutation in GYS1 (muscle-specific glycogen synthase) resulting in sudden cardiac death, that is diagnosable from skin fibroblasts. 38
19699667 2009
11
The variable clinical phenotype of liver glycogen synthase deficiency. 38
18341095 2007
12
Glycogen storage disease: clinical, biochemical, and molecular heterogeneity. 38
17027861 2006
13
Hepatic glycogen synthase deficiency: an infrequently recognized cause of ketotic hypoglycemia. 38
16337419 2006
14
Long-term follow-up of a new case of liver glycogen synthase deficiency. 38
12794686 2003
15
Glycogen synthase deficiency (glycogen storage disease type 0) presenting with hyperglycemia and glucosuria: report of three new mutations. 38
12072888 2002
16
Case report: liver glycogen synthase deficiency--a cause of ketotic hypoglycemia. 38
11483824 2001
17
The molecular background of glycogen metabolism disorders. 38
10821216 1999
18
Mutations in the liver glycogen synthase gene in children with hypoglycemia due to glycogen storage disease type 0. 38
9691087 1998
19
[Glycogen synthase deficiency]. 38
9589989 1998
20
Liver glycogen synthase deficiency: a rarely diagnosed entity. 38
8831078 1996

Variations for Glycogen Storage Disease Type 0

Expression for Glycogen Storage Disease Type 0

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

Pathways for Glycogen Storage Disease Type 0

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

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.45 GYS2 GYS1 GYG2 GYG1 AGL
2
Show member pathways
13.15 GYS2 GYS1 GYG2 GYG1
3
Show member pathways
12.47 GYS2 GYS1 GYG2 GYG1 AGL
4
Show member pathways
12.13 GYS2 GYS1 GYG2 GYG1 AGL
5
Show member pathways
12.03 GYS2 GYS1 GYG1
6
Show member pathways
11.73 GYS2 GYS1
7
Show member pathways
11.53 GYS2 GYS1 GYG2 GYG1
8
Show member pathways
11.5 GYS2 GYS1
9 11.46 GYS2 GYS1
10
Show member pathways
11.44 GYS2 GYS1 GYG2 GYG1 AGL
11 10.58 GYS2 GYS1 GYG2 GYG1 AGL

GO Terms for Glycogen Storage Disease Type 0

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

# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 9.65 GYS2 GYS1 GYG2 GYG1 AGL
2 ficolin-1-rich granule lumen GO:1904813 9.16 GYG1 AGL
3 secretory granule lumen GO:0034774 8.96 GYG1 AGL
4 inclusion body GO:0016234 8.62 GYS1 AGL

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

# Name GO ID Score Top Affiliating Genes
1 glycogen metabolic process GO:0005977 9.16 GYS1 AGL
2 metabolic process GO:0008152 9.13 GYS2 GYS1 AGL
3 glycogen biosynthetic process GO:0005978 9.02 GYS2 GYS1 GYG2 GYG1 AGL
4 response to glucose GO:0009749 8.96 GYS2

Molecular functions related to Glycogen Storage Disease Type 0 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 9.77 GYS2 GYS1 GYG2 GYG1 AGL
2 UDP-alpha-D-glucose:glucosyl-glycogenin alpha-D-glucosyltransferase activity GO:0102751 9.32 GYG2 GYG1
3 glycogenin glucosyltransferase activity GO:0008466 9.26 GYG2 GYG1
4 glycogen synthase activity, transferring glucose-1-phosphate GO:0061547 9.16 GYS2 GYS1
5 glucose binding GO:0005536 9.1 GYS1
6 transferase activity, transferring glycosyl groups GO:0016757 9.02 GYS2 GYS1 GYG2 GYG1 AGL
7 glycogen (starch) synthase activity GO:0004373 8.96 GYS2 GYS1

Sources for Glycogen Storage Disease Type 0

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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