GSD 0
MCID: GLY023
MIFTS: 34

Glycogen Storage Disease Type 0 (GSD 0) malady

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

Aliases & Classifications for Glycogen Storage Disease Type 0

Aliases & Descriptions for Glycogen Storage Disease Type 0:

Name: Glycogen Storage Disease Type 0 25
Glycogen Synthase Deficiency 25 69
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

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 glycogen storage disease 0, liver and glycogen storage disease 0, muscle. 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 Methotrexate and rituximab have been mentioned in the context of this disorder. Affiliated tissues include liver.

Wikipedia : 71 Glycogen storage disease type 0 is a disease characterized by a deficiency in the glycogen synthase... more...

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):

(show all 38)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Methotrexate Approved Phase 4 1959-05-2, 59-05-2 126941
2
rituximab Approved Phase 4 174722-31-7 10201696
3
leucovorin Approved, Nutraceutical Phase 4 58-05-9 54575, 6560146 143
4
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
5 Folic Acid Antagonists Phase 4
6 Nucleic Acid Synthesis Inhibitors Phase 4
7 Dermatologic Agents Phase 4
8 Vitamin B Complex Phase 4
9 Immunosuppressive Agents Phase 4
10 Antimetabolites Phase 4
11 Antimetabolites, Antineoplastic Phase 4
12 Antirheumatic Agents Phase 4
13 Folate Nutraceutical Phase 4
14 Vitamin B9 Nutraceutical Phase 4
15
Miglustat Approved Phase 1 72599-27-0 51634
16
1-Deoxynojirimycin Experimental Phase 1 19130-96-2 1374
17 Glycoside Hydrolase Inhibitors Phase 1
18 Hypoglycemic Agents Phase 1
19 Immunoglobulins Phase 1
20 Anti-HIV Agents Phase 1
21 Anti-Infective Agents Phase 1
22 Anti-Retroviral Agents Phase 1
23 Antibodies Phase 1
24 Antiviral Agents Phase 1
25 Cardiac Glycosides Phase 1
26
Everolimus Approved 159351-69-6 6442177
27
Sirolimus Approved, Investigational 53123-88-9 5284616 6436030 46835353
28
Pancrelipase Approved 53608-75-6
29
Somatostatin Approved 38916-34-6, 51110-01-1 53481605
30 pancreatin
31 insulin
32 Alpha 1-Antitrypsin
33 Hormones
34 Pharmaceutical Solutions
35 Insulin, Globin Zinc
36 Protein C Inhibitor
37 Liver Extracts
38 Calcium, Dietary

Interventional clinical trials:

(show all 14)
id Name Status NCT ID Phase
1 Late-Onset Treatment Study Extension Protocol Completed NCT00455195 Phase 4
2 An Exploratory Study of the Safety and Efficacy of Prophylactic Immunomodulatory Treatment in Myozyme-naive Cross-Reacting Immunologic Material (CRIM[-]) Patients With Infantile-Onset Pompe Disease Completed NCT00701129 Phase 4
3 Pharmacokinetics of Alglucosidase Alfa in Patients With Pompe Disease Recruiting NCT01410890 Phase 4
4 A Placebo-Controlled Study of Safety and Effectiveness of Myozyme (Alglucosidase Alfa) in Patients With Late-Onset Pompe Disease Completed NCT00158600 Phase 3
5 Triheptanoin in Mc Ardle Not yet recruiting NCT02919631 Phase 2
6 A Pilot Study of Zavesca® in Patients With Pompe Disease and Infusion Associated Reaction Recruiting NCT02185651 Phase 1
7 Sleep and Quality of Life in Patients With Glycogen Storage Disease on Standard Versus Modified Uncooked Cornstarch Completed NCT02054832
8 Study of Glycogen Storage Disease Expression in Carriers Completed NCT02057731
9 Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy Recruiting NCT02635269
10 Energy Supplements to Improve Exercise Tolerance in Metabolic Myopathies Recruiting NCT02448667
11 Observational Study for Subjects With Pompe Disease Undergoing Immune Modulation Therapies Recruiting NCT01451879
12 Shear Wave Sonoelastography in Pediatric Liver Fibrosis Recruiting NCT02372682
13 Lipid and Glycogen Metabolism in Patients With Impaired Glucose Tolerance and Calcium Sensing Receptor Mutations Recruiting NCT02023489
14 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:

39
Liver

Publications for Glycogen Storage Disease Type 0

Articles related to Glycogen Storage Disease Type 0:

id Title Authors Year
1
Low level of fasting plasma mannose in a child with glycogen storage disease type 0 (liver glycogen synthase deficiency). ( 20331987 )
2010
2
A novel mutation in the glycogen synthase 2 gene in a child with glycogen storage disease type 0. ( 20051115 )
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)
id 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
12.23 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:

id 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:

id 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:

id Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 9.72 AGL GYG1 GYG2 GYS1 GYS2
2 glycogenin glucosyltransferase activity GO:0008466 9.26 GYG1 GYG2
3 glycogen (starch) synthase activity GO:0004373 9.16 GYS1 GYS2
4 transferase activity, transferring glycosyl groups GO:0016757 9.02 AGL GYG1 GYG2 GYS1 GYS2
5 glycogen synthase activity, transferring glucose-1-phosphate GO:0061547 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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