MCID: GLY023
MIFTS: 41

Glycogen Storage Disease Type 0

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

Aliases & Classifications for Glycogen Storage Disease Type 0

MalaCards integrated aliases for Glycogen Storage Disease Type 0:

Name: Glycogen Storage Disease Type 0 26
Glycogen Synthase Deficiency 26 74
Hypoglycemia with Deficiency of Glycogen Synthetase 26
Glycogen Storage Disease, Type 0 13
Glycogen Synthetase Deficiency 26
Glycogen Storage Disease 0 26
Glycogen Synthase 13
Gsd Type 0 26
Gsd 0 26

Classifications:



External Ids:

ICD10 34 E16.2
UMLS 74 C0342748

Summaries for Glycogen Storage Disease Type 0

Genetics Home Reference : 26 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 fasting 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. The drugs Pharmaceutical Solutions and Hypoglycemic Agents have been mentioned in the context of this disorder. Affiliated tissues include liver, lung and brain.

Related Diseases for Glycogen Storage Disease Type 0

Diseases in the Glycogen Storage Disease family:

Glycogen Storage Disease Ia Glycogen Storage Disease Ib
Glycogen Storage Disease Ic Glycogen Storage Disease Ii
Glycogen Storage Disease Iii Glycogen Storage Disease Iv
Glycogen Storage Disease V Glycogen Storage Disease Vi
Glycogen Storage Disease Vii Glycogen Storage Disease X
Glycogen Storage Disease Ixb Glycogen Storage Disease, Type Ixd
Glycogen Storage Disease Xii Glycogen Storage Disease Xiii
Glycogen Storage Disease Ixc Glycogen Storage Disease Xv
Glycogen Storage Disease Ix Glycogen Storage Disease Ixa
Glycogen Storage Disease Viii Glycogen Storage Disease Type 0

Diseases related to Glycogen Storage Disease Type 0 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 198)
# Related Disease Score Top Affiliating Genes
1 hypoglycemia 30.0 AGL GYS2
2 fasting hypoglycemia 29.9 GYS1 GYS2
3 glycogen storage disease 28.9 AGL GYG1 GYG2 GYS1 GYS2
4 myoclonic epilepsy of lafora 28.3 GYG1 GYG2 GYS1 GYS2
5 glycogen storage disease 0, liver 12.4
6 glycogen storage disease 0, muscle 11.5
7 alzheimer disease 10.6
8 diabetes mellitus, noninsulin-dependent 10.5
9 diabetes mellitus 10.4
10 leukemia 10.4
11 prostate cancer 10.3
12 prostate cancer, hereditary, 8 10.3
13 prostate cancer, hereditary, 6 10.3
14 ischemia 10.3
15 hepatocellular carcinoma 10.3
16 hyperglycemia 10.3
17 schizophrenia 10.3
18 bipolar disorder 10.3
19 pancreatic cancer 10.2
20 glioblastoma 10.2
21 depression 10.2
22 myocardial infarction 10.2
23 gastric cancer 10.2
24 mood disorder 10.2
25 breast cancer 10.2
26 insulin-like growth factor i 10.2
27 muscle hypertrophy 10.2
28 familial adenomatous polyposis 10.2
29 squamous cell carcinoma 10.2
30 hyperinsulinism 10.2
31 myeloid leukemia 10.2
32 glioma 10.2
33 colorectal cancer 10.1
34 lung cancer 10.1
35 fragile x syndrome 10.1
36 hepatitis 10.1
37 glucose intolerance 10.1
38 rhabdomyosarcoma 10.1
39 hypoxia 10.1
40 syncope 10.1
41 glioma susceptibility 1 10.0
42 huntington disease 10.0
43 kaposi sarcoma 10.0
44 ovarian cancer 10.0
45 osteogenic sarcoma 10.0
46 leukemia, acute myeloid 10.0
47 fatty liver disease, nonalcoholic 1 10.0
48 muscle disorders 10.0
49 polycystic ovary syndrome 10.0
50 oral squamous cell carcinoma 10.0

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:

42
Liver, Lung, Brain, Prostate, Kidney, Myeloid, Spinal Cord

Publications for Glycogen Storage Disease Type 0

Articles related to Glycogen Storage Disease Type 0:

(show all 12)
# Title Authors Year
1
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. ( 30968641 )
2018
2
The variable clinical phenotype of three patients with hepatic glycogen synthase deficiency. ( 28245189 )
2017
3
Pediatric patient with hyperketotic hypoglycemia diagnosed with glycogen synthase deficiency due to the novel homozygous mutation in GYS2. ( 26937415 )
2015
4
A novel mutation in the glycogen synthase 2 gene in a child with glycogen storage disease type 0. ( 20051115 )
2010
5
Low level of fasting plasma mannose in a child with glycogen storage disease type 0 (liver glycogen synthase deficiency). ( 20331987 )
2010
6
The variable clinical phenotype of liver glycogen synthase deficiency. ( 18341095 )
2007
7
Hepatic glycogen synthase deficiency: an infrequently recognized cause of ketotic hypoglycemia. ( 16337419 )
2006
8
Long-term follow-up of a new case of liver glycogen synthase deficiency. ( 12794686 )
2003
9
Glycogen synthase deficiency (glycogen storage disease type 0) presenting with hyperglycemia and glucosuria: report of three new mutations. ( 12072888 )
2002
10
Case report: liver glycogen synthase deficiency--a cause of ketotic hypoglycemia. ( 11483824 )
2001
11
Mutations in the liver glycogen synthase gene in children with hypoglycemia due to glycogen storage disease type 0. ( 9691087 )
1998
12
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 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.45 AGL GYG1 GYG2 GYS1 GYS2
2
Show member pathways
13.15 GYG1 GYG2 GYS1 GYS2
3
Show member pathways
12.47 AGL GYG1 GYG2 GYS1 GYS2
4
Show member pathways
12.13 AGL GYG1 GYG2 GYS1 GYS2
5
Show member pathways
12.03 GYG1 GYS1 GYS2
6
Show member pathways
11.73 GYS1 GYS2
7
Show member pathways
11.53 GYG1 GYG2 GYS1 GYS2
8
Show member pathways
11.5 GYS1 GYS2
9 11.45 GYS1 GYS2
10
Show member pathways
11.44 AGL GYG1 GYG2 GYS1 GYS2
11 10.58 AGL GYG1 GYG2 GYS1 GYS2

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 AGL GYG1 GYG2 GYS1 GYS2
2 ficolin-1-rich granule lumen GO:1904813 9.16 AGL GYG1
3 secretory granule lumen GO:0034774 8.96 AGL GYG1
4 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 glycogen metabolic process GO:0005977 9.16 AGL GYS1
2 metabolic process GO:0008152 9.13 AGL GYS1 GYS2
3 glycogen biosynthetic process GO:0005978 9.02 AGL GYG1 GYG2 GYS1 GYS2
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 AGL GYG1 GYG2 GYS1 GYS2
2 glycogen (starch) synthase activity GO:0004373 9.32 GYS1 GYS2
3 glycogen synthase activity, transferring glucose-1-phosphate GO:0061547 9.26 GYS1 GYS2
4 glycogenin glucosyltransferase activity GO:0008466 9.16 GYG1 GYG2
5 glucose binding GO:0005536 9.1 GYS1
6 transferase activity, transferring glycosyl groups GO:0016757 9.02 AGL GYG1 GYG2 GYS1 GYS2
7 UDP-alpha-D-glucose:glucosyl-glycogenin alpha-D-glucosyltransferase activity GO:0102751 8.96 GYG1 GYG2

Sources for Glycogen Storage Disease Type 0

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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