MCID: GLY023
MIFTS: 34

Glycogen Storage Disease Type 0

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

Aliases & Classifications for Glycogen Storage Disease Type 0

MalaCards integrated aliases for Glycogen Storage Disease Type 0:

Name: Glycogen Storage Disease Type 0 24
Glycogen Synthase Deficiency 24 69
Hypoglycemia with Deficiency of Glycogen Synthetase 24
Glycogen Storage Disease, Type 0 13
Glycogen Synthetase Deficiency 24
Glycogen Storage Disease 0 24
Glycogen Synthase 13
Gsd Type 0 24
Gsd 0 24

Classifications:



External Ids:

ICD10 32 E16.2
UMLS 69 C0342748

Summaries for Glycogen Storage Disease Type 0

Genetics Home Reference : 24 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
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
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:

38
Liver

Publications for Glycogen Storage Disease Type 0

Articles related to Glycogen Storage Disease Type 0:

# Title Authors Year
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

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
13.51 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
11.6 GYG1 GYG2 GYS1 GYS2
8
Show member pathways
11.53 GYS1 GYS2
9 11.47 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 UDP-alpha-D-glucose:glucosyl-glycogenin alpha-D-glucosyltransferase activity GO:0102751 9.32 GYG1 GYG2
3 glycogenin glucosyltransferase activity GO:0008466 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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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