MCID: GLY023
MIFTS: 34

Glycogen Storage Disease Type 0

Categories: Endocrine diseases, Genetic diseases, Rare diseases, Liver diseases, Nephrological diseases, Metabolic diseases, Neuronal diseases, Cardiovascular diseases, Blood diseases, Muscle 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 73
Hypoglycemia with Deficiency of Glycogen Synthetase 25
Glycogen Storage Disease, Type 0 13
Glycogen Synthetase Deficiency 25
Glycogen Storage Disease 0 25
Glycogen Synthase 13
Gsd Type 0 25
Gsd 0 25

Classifications:



External Ids:

ICD10 33 E16.2
UMLS 73 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.

MalaCards based summary : Glycogen Storage Disease Type 0, also known as 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), and among its related pathways/superpathways are Metabolism and HIV Life Cycle. The drugs Pharmaceutical Solutions and Hypoglycemic Agents have been mentioned in the context of this disorder. Affiliated tissues include liver.

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

Drugs for Glycogen Storage Disease Type 0 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Pharmaceutical Solutions Not Applicable
2 Hypoglycemic Agents

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Sleep and Quality of Life in Patients With Glycogen Storage Disease on Standard Versus Modified Uncooked Cornstarch Completed NCT02054832
2 Study of Glycogen Storage Disease Expression in Carriers Completed NCT02057731
3 Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy Recruiting NCT02635269 Not Applicable
4 Clinical Evaluation of a Non-Invasive Hypoglycemia Detector in a Glycogen Storage Disease Population Terminated NCT02338817

Search 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

Publications for Glycogen Storage Disease Type 0

Articles related to Glycogen Storage Disease Type 0:

# Title Authors Year
1
The variable clinical phenotype of three patients with hepatic glycogen synthase deficiency. ( 28245189 )
2017
2
Low level of fasting plasma mannose in a child with glycogen storage disease type 0 (liver glycogen synthase deficiency). ( 20331987 )
2010
3
A novel mutation in the glycogen synthase 2 gene in a child with glycogen storage disease type 0. ( 20051115 )
2010
4
The variable clinical phenotype of liver glycogen synthase deficiency. ( 18341095 )
2007
5
Long-term follow-up of a new case of liver glycogen synthase deficiency. ( 12794686 )
2003
6
Glycogen synthase deficiency (glycogen storage disease type 0) presenting with hyperglycemia and glucosuria: report of three new mutations. ( 12072888 )
2002
7
Case report: liver glycogen synthase deficiency--a cause of ketotic hypoglycemia. ( 11483824 )
2001
8
Mutations in the liver glycogen synthase gene in children with hypoglycemia due to glycogen storage disease type 0. ( 9691087 )
1998
9
Liver glycogen synthase deficiency: a rarely diagnosed entity. ( 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 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.49 AGL GYG1 GYG2 GYS1 GYS2
2
Show member pathways
13.18 GYG1 GYG2 GYS1 GYS2
3
Show member pathways
12.52 AGL GYG1 GYG2 GYS1 GYS2
4
Show member pathways
12.24 AGL GYG1 GYG2 GYS1 GYS2
5
Show member pathways
12.09 GYG1 GYS1 GYS2
6
Show member pathways
11.76 GYS1 GYS2
7
Show member pathways
11.59 GYG1 GYG2 GYS1 GYS2
8
Show member pathways
11.53 GYS1 GYS2
9 11.49 GYS1 GYS2
10
Show member pathways
11.44 AGL GYG1 GYG2 GYS1 GYS2
11
Show member pathways
10.93 GYG1 GYG2 GYS1 GYS2
12 10.58 AGL GYG1 GYG2 GYS1 GYS2
13
Show member pathways
10.01 GYG1 GYS1

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 9.72 AGL GYG1 GYG2 GYS1 GYS2
2 ficolin-1-rich granule lumen GO:1904813 9.26 AGL GYG1
3 secretory granule lumen GO:0034774 9.16 AGL GYG1
4 lysosomal lumen GO:0043202 8.96 GYG1 GYG2
5 inclusion body GO:0016234 8.62 AGL GYS1

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

# Name GO ID Score Top Affiliating Genes
1 metabolic process GO:0008152 9.43 AGL GYS1 GYS2
2 glycogen metabolic process GO:0005977 9.16 AGL GYS1
3 glycogen catabolic process GO:0005980 9.13 AGL GYG1 GYG2
4 glycogen biosynthetic process GO:0005978 9.02 AGL GYG1 GYG2 GYS1 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 AGL GYG1 GYG2 GYS1 GYS2
2 glycogenin glucosyltransferase activity GO:0008466 9.32 GYG1 GYG2
3 UDP-alpha-D-glucose:glucosyl-glycogenin alpha-D-glucosyltransferase activity GO:0102751 9.26 GYG1 GYG2
4 glycogen synthase activity, transferring glucose-1-phosphate GO:0061547 9.16 GYS1 GYS2
5 transferase activity, transferring glycosyl groups GO:0016757 9.02 AGL GYG1 GYG2 GYS1 GYS2
6 glycogen (starch) synthase activity GO:0004373 8.96 GYS1 GYS2

Sources for Glycogen Storage Disease Type 0

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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