GSD0B
MCID: GLY061
MIFTS: 27

Glycogen Storage Disease 0, Muscle (GSD0B) malady

Categories: Genetic diseases, Rare diseases, Metabolic diseases

Aliases & Classifications for Glycogen Storage Disease 0, Muscle

Aliases & Descriptions for Glycogen Storage Disease 0, Muscle:

Name: Glycogen Storage Disease 0, Muscle 54 13 69
Muscle Glycogen Synthase Deficiency 50 24 66
Glycogen Storage Disease Type 0, Muscle 50 24
Muscle Glycogen Storage Disease 0 66 29
Gsd0b 24 66
Glycogen Storage Disease Due to Muscle and Heart Glycogen Synthase Deficiency 56
Glycogenosis Due to Muscle and Heart Glycogen Synthase Deficiency 56
Gsd Due to Muscle and Heart Glycogen Synthase Deficiency 56
Glycogen Storage Disease Type 0b 56
Glycogenosis Type 0b 56
Gsd Type 0b 56
Gsd 0b 24

Characteristics:

Orphanet epidemiological data:

56
glycogen storage disease due to muscle and heart glycogen synthase deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: adolescent,late childhood;

HPO:

32
glycogen storage disease 0, muscle:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 56  
Inborn errors of metabolism


External Ids:

OMIM 54 611556
Orphanet 56 ORPHA137625
ICD10 via Orphanet 34 E74.0
MedGen 40 C1969054

Summaries for Glycogen Storage Disease 0, Muscle

UniProtKB/Swiss-Prot : 66 Muscle glycogen storage disease 0: Metabolic disorder characterized by fasting hypoglycemia presenting in infancy or early childhood. The role of muscle glycogen is to provide critical energy during bursts of activity and sustained muscle work.

MalaCards based summary : Glycogen Storage Disease 0, Muscle, also known as muscle glycogen synthase deficiency, is related to glycogen storage disease 0, liver and glycogen storage disease, and has symptoms including cardiomyopathy, generalized tonic-clonic seizures and left ventricular hypertrophy. An important gene associated with Glycogen Storage Disease 0, Muscle is GYS1 (Glycogen Synthase 1). The drugs Miglustat and 1-Deoxynojirimycin have been mentioned in the context of this disorder. Affiliated tissues include heart.

Description from OMIM: 611556

Related Diseases for Glycogen Storage Disease 0, Muscle

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

id Related Disease Score Top Affiliating Genes
1 glycogen storage disease 0, liver 11.2
2 glycogen storage disease 10.1
3 cardiomyopathy 10.0
4 syncope 10.0

Symptoms & Phenotypes for Glycogen Storage Disease 0, Muscle

Symptoms by clinical synopsis from OMIM:

611556

Clinical features from OMIM:

611556

Human phenotypes related to Glycogen Storage Disease 0, Muscle:

32
id Description HPO Frequency HPO Source Accession
1 cardiomyopathy 32 HP:0001638
2 generalized tonic-clonic seizures 32 HP:0002069
3 left ventricular hypertrophy 32 HP:0001712
4 exercise intolerance 32 HP:0003546
5 decreased muscle glycogen content 32 HP:0012270

Drugs & Therapeutics for Glycogen Storage Disease 0, Muscle

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

(show all 17)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Miglustat Approved Phase 1 72599-27-0 51634
2
1-Deoxynojirimycin Experimental Phase 1 19130-96-2 1374
3 Glycoside Hydrolase Inhibitors Phase 1
4 Hypoglycemic Agents Phase 1
5 Immunoglobulins Phase 1
6 Anti-HIV Agents Phase 1
7 Anti-Infective Agents Phase 1
8 Anti-Retroviral Agents Phase 1
9 Antibodies Phase 1
10 Antiviral Agents Phase 1
11 Cardiac Glycosides Phase 1
12
Somatostatin Approved 38916-34-6, 51110-01-1 53481605
13 insulin
14 Hormones
15 Insulin, Globin Zinc
16 Liver Extracts
17 Calcium, Dietary

Interventional clinical trials:


id Name Status NCT ID Phase
1 Late-Onset Treatment Study Extension Protocol Completed NCT00455195 Phase 4
2 A Placebo-Controlled Study of Safety and Effectiveness of Myozyme (Alglucosidase Alfa) in Patients With Late-Onset Pompe Disease Completed NCT00158600 Phase 3
3 A Pilot Study of Zavesca® in Patients With Pompe Disease and Infusion Associated Reaction Recruiting NCT02185651 Phase 1
4 Energy Supplements to Improve Exercise Tolerance in Metabolic Myopathies Recruiting NCT02448667
5 Lipid and Glycogen Metabolism in Patients With Impaired Glucose Tolerance and Calcium Sensing Receptor Mutations Recruiting NCT02023489
6 Dose Response Oxidation of a Sweet-corn Derived Sugar (PhytoSpherix) During Exercise in Endurance Trained Athletes Not yet recruiting NCT02909881

Search NIH Clinical Center for Glycogen Storage Disease 0, Muscle

Genetic Tests for Glycogen Storage Disease 0, Muscle

Genetic tests related to Glycogen Storage Disease 0, Muscle:

id Genetic test Affiliating Genes
1 Glycogen Storage Disease 0, Muscle 29
2 Glycogen Storage Disease Type 0, Muscle 24 GYS1

Anatomical Context for Glycogen Storage Disease 0, Muscle

MalaCards organs/tissues related to Glycogen Storage Disease 0, Muscle:

39
Heart

Publications for Glycogen Storage Disease 0, Muscle

Variations for Glycogen Storage Disease 0, Muscle

ClinVar genetic disease variations for Glycogen Storage Disease 0, Muscle:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 GYS1 NM_002103.4(GYS1): c.1384C> T (p.Arg462Ter) single nucleotide variant Pathogenic rs121434584 GRCh37 Chromosome 19, 49477915: 49477915
2 GYS1 NM_002103.4(GYS1): c.162_163delAG (p.Asp56Argfs) deletion Pathogenic rs587777375 GRCh38 Chromosome 19, 48991439: 48991440

Expression for Glycogen Storage Disease 0, Muscle

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

Pathways for Glycogen Storage Disease 0, Muscle

GO Terms for Glycogen Storage Disease 0, Muscle

Sources for Glycogen Storage Disease 0, Muscle

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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