MCID: GLY061
MIFTS: 19

Glycogen Storage Disease 0, Muscle malady

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Glycogen Storage Disease 0, Muscle

About this section

Aliases & Descriptions for Glycogen Storage Disease 0, Muscle:

Name: Glycogen Storage Disease 0, Muscle 49 11 65
Muscle Glycogen Synthase Deficiency 45 22 67
Glycogen Storage Disease Type 0, Muscle 45 22
 
Muscle Glycogen Storage Disease 0 67 24
Gsd0b 22 67
Gsd 0b 22

Characteristics:

HPO:

61
glycogen storage disease 0, muscle:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 611556
MedGen34 C1969054
UMLS65 C1969054

Summaries for Glycogen Storage Disease 0, Muscle

About this section
UniProtKB/Swiss-Prot:67 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 yaws, and has symptoms including cardiomyopathy, left ventricular hypertrophy and generalized tonic-clonic seizures. An important gene associated with Glycogen Storage Disease 0, Muscle is GYS1 (Glycogen Synthase 1). Affiliated tissues include liver.

Description from OMIM:49 611556

Related Diseases for Glycogen Storage Disease 0, Muscle

About this section

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

idRelated DiseaseScoreTop Affiliating Genes
1glycogen storage disease 0, liver10.7
2yaws10.3

Symptoms for Glycogen Storage Disease 0, Muscle

About this section

Symptoms by clinical synopsis from OMIM:

611556

Clinical features from OMIM:

611556

HPO human phenotypes related to Glycogen Storage Disease 0, Muscle:

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

Drugs & Therapeutics for Glycogen Storage Disease 0, Muscle

About this section

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

(show all 21)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
MiglustatapprovedPhase 12172599-27-051634
Synonyms:
(2R,3R,4R,5S)-1-butyl-2-(hydroxymethyl)piperidine-3,4,5-triol
1,5-Dideoxy-1,5-N-butylimino-D-glucitol
134282-77-2
72599-27-0
AC1L1BHJ
BuDNJ
Butyldeoxynojirimycin
CHEBI:49779
CHEBI:50381
CHEMBL1029
CID51634
D05032
DB00419
HMS2090N20
LS-116261
Miglustat
Miglustat (USAN/INN)
Miglustat Hydrochloride
Miglustat [USAN]
Miglustat, Hydrochloride
Miglustatum
N-(N-Butyl)deoxynojirimycin
N-(n-Butyl)deoxynojirimycin
N-(n-butyl)-1,5-dideoxy-1,5-imino-D-glucitol
 
N-Bu-DNJ
N-Butyl deoxynojirimycin
N-Butyl-1-deoxynojirimycin
N-Butyl-DNJ
N-Butyl-deoxynojirimycin
N-Butyldeoxynojirimycin
N-Butylmoranoline
N-butyl-1-deoxynojirimycin
NB-DNJ
NB-dnj
NBV
OGT 918
OGT-918
SC 48334
SC-48334
SC48334
UNII-ADN3S497AZ
Vevesca
Zavesca
Zavesca (TN)
miglustatum
n-Butyl deoxynojirimycin
n-Butyl dnj
nchembio.81-comp12
nchembio850-comp5
2Hypoglycemic AgentsPhase 14503
3AntibodiesPhase 14477
4Glycoside Hydrolase InhibitorsPhase 1111
5ImmunoglobulinsPhase 14477
6Anti-Retroviral AgentsPhase 12794
7Anti-Infective AgentsPhase 117220
8Antiviral AgentsPhase 18071
9Cardiac GlycosidesPhase 1128
10
AcetylcholineexperimentalPhase 068951-84-3187
Synonyms:
ACh
Acetyl choline ion
Acetylcholine Chloride
Acetylcholine cation
 
Acetylcholinium: acetyl-Choline
Choline acetate
Choline acetate (ester)
Miochol E
O-Acetylcholine
acetylcholine chloride
11insulin4278
12Insulin, Globin Zinc4278
13Liver Extracts3572
14
Somatostatin15351110-01-153481605
Synonyms:
growth hormone-inhibiting hormone (GHIH)
 
somatotropin release-inhibiting factor (SRIF)
somatotropin release-inhibiting hormone
15Calcium, Dietary4678
16BromidesPhase 0523
17Cholinergic AgentsPhase 03243
18Cholinesterase InhibitorsPhase 0498
19Neurotransmitter AgentsPhase 014795
20Pyridostigmine BromidePhase 022101-26-8
21Hormones11748

Interventional clinical trials:

idNameStatusNCT IDPhase
1Late-Onset Treatment Study Extension ProtocolCompletedNCT00455195Phase 4
2A Placebo-Controlled Study of Safety and Effectiveness of Myozyme (Alglucosidase Alfa) in Patients With Late-Onset Pompe DiseaseCompletedNCT00158600Phase 3
3A Pilot Study of Zavesca® in Patients With Pompe Disease and Infusion Associated ReactionRecruitingNCT02185651Phase 1
4A Pilot Study of Pyridostigmine in Pompe DiseaseRecruitingNCT02357225Phase 0
5Energy Supplements to Improve Exercise Tolerance in Metabolic MyopathiesRecruitingNCT02448667
6Lipid and Glycogen Metabolism in Patients With Impaired Glucose Tolerance and Calcium Sensing Receptor MutationsRecruitingNCT02023489
7Diet and Exercise in Pompe DiseaseNot yet recruitingNCT02363153Phase 0

Search NIH Clinical Center for Glycogen Storage Disease 0, Muscle

Genetic Tests for Glycogen Storage Disease 0, Muscle

About this section

Genetic tests related to Glycogen Storage Disease 0, Muscle:

id Genetic test Affiliating Genes
1 Glycogen Storage Disease Type 0, Muscle22 GYS1

Anatomical Context for Glycogen Storage Disease 0, Muscle

About this section

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

33
Liver

Animal Models for Glycogen Storage Disease 0, Muscle or affiliated genes

About this section

Publications for Glycogen Storage Disease 0, Muscle

About this section

Variations for Glycogen Storage Disease 0, Muscle

About this section

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

5
id Gene Variation Type Significance SNP ID Assembly Location
1GYS1NM_002103.4(GYS1): c.162_163delAG (p.Asp56Argfs)deletionPathogenicrs587777375GRCh38Chr 19, 48991439: 48991440
2GYS1NM_002103.4(GYS1): c.1384C> T (p.Arg462Ter)single nucleotide variantPathogenicrs121434584GRCh37Chr 19, 49477915: 49477915

Expression for genes affiliated with Glycogen Storage Disease 0, Muscle

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

Pathways for genes affiliated with Glycogen Storage Disease 0, Muscle

About this section

GO Terms for genes affiliated with Glycogen Storage Disease 0, Muscle

About this section

Sources for Glycogen Storage Disease 0, Muscle

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet