MCID: GLY061
MIFTS: 21

Glycogen Storage Disease 0, Muscle malady

Genetic diseases, Rare diseases categories

Aliases & Classifications for Glycogen Storage Disease 0, Muscle

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Aliases & Descriptions for Glycogen Storage Disease 0, Muscle:

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


Classifications:



External Ids:

OMIM49 611556
MedGen34 C1969054

Summaries for Glycogen Storage Disease 0, Muscle

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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 glycogen storage disease type 0, muscle, is related to glycogen storage disease and glycogen storage disease 0, liver, and has symptoms including autosomal recessive inheritance, cardiomyopathy and left ventricular hypertrophy. An important gene associated with Glycogen Storage Disease 0, Muscle is GYS1 (Glycogen Synthase 1 (Muscle)).

Description from OMIM:49 611556

Related Diseases for Glycogen Storage Disease 0, Muscle

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

idRelated DiseaseScoreTop Affiliating Genes
1glycogen storage disease10.5
2glycogen storage disease 0, liver10.4
3cardiomyopathy10.3
4syncope10.3

Symptoms for Glycogen Storage Disease 0, Muscle

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Symptoms by clinical synopsis from OMIM:

611556

Clinical features from OMIM:

611556

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

(show all 6)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 cardiomyopathy HP:0001638
3 left ventricular hypertrophy HP:0001712
4 generalized tonic-clonic seizures HP:0002069
5 exercise intolerance HP:0003546
6 decreased muscle glycogen content HP:0012270

Drugs & Therapeutics for Glycogen Storage Disease 0, Muscle

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

(show all 8)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
MiglustatapprovedPhase 12072599-27-051634
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
2
AcetylcholineexperimentalPhase 010451-84-3187
Synonyms:
ACh
Acetyl choline ion
Acetylcholine Chloride
Acetylcholine cation
 
Acetylcholinium: acetyl-Choline
Choline acetate
Choline acetate (ester)
Miochol E
O-Acetylcholine
acetylcholine chloride
3Insulin, Globin Zinc4069
4
Somatostatin14151110-01-153481605
Synonyms:
growth hormone-inhibiting hormone (GHIH)
 
somatotropin release-inhibiting factor (SRIF)
somatotropin release-inhibiting hormone
5insulin4069
6Pyridostigmine BromidePhase 022101-26-8
7BromidesPhase 0355
8Calcium, Dietary3529

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

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Genetic Tests for Glycogen Storage Disease 0, Muscle

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Genetic tests related to Glycogen Storage Disease 0, Muscle:

id Genetic test Affiliating Genes
1 Glycogen Storage Disease Type 0, Muscle22 GYS1
2 Glycogen Storage Disease 0, Muscle24

Anatomical Context for Glycogen Storage Disease 0, Muscle

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

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Publications for Glycogen Storage Disease 0, Muscle

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Variations for Glycogen Storage Disease 0, Muscle

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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

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

Pathways for genes affiliated with Glycogen Storage Disease 0, Muscle

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

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Sources for Glycogen Storage Disease 0, Muscle

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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