MCID: GLY061
MIFTS: 27

Glycogen Storage Disease 0, Muscle malady

Categories: Genetic diseases, Rare diseases, Metabolic 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 50 12 66
Muscle Glycogen Synthase Deficiency 46 23 68
Glycogen Storage Disease Type 0, Muscle 46 23
Muscle Glycogen Storage Disease 0 68 25
Gsd0b 23 68
Glycogen Storage Disease Due to Muscle and Heart Glycogen Synthase Deficiency 52
 
Glycogenosis Due to Muscle and Heart Glycogen Synthase Deficiency 52
Gsd Due to Muscle and Heart Glycogen Synthase Deficiency 52
Glycogen Storage Disease Type 0b 52
Glycogenosis Type 0b 52
Gsd Type 0b 52
Gsd 0b 23

Characteristics:

Orphanet epidemiological data:

52
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:

62
glycogen storage disease 0, muscle:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 611556
Orphanet52 ORPHA137625
ICD10 via Orphanet29 E74.0
MedGen35 C1969054

Summaries for Glycogen Storage Disease 0, Muscle

About this section
UniProtKB/Swiss-Prot:68 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, 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 heart.

Description from OMIM:50 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, liver10.3
2glycogen storage disease10.2
3cardiomyopathy10.1
4syncope10.1

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 6)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
1-DeoxynojirimycinPhase 12319130-96-21374
Synonyms:
(2R,3R,4R,5S)-2-(Hydroxymethyl)piperidine-3,4,5-triol
1 deoxynojirimycin
1,5-Dideoxy-1,5-imino-D-glucitol, 9CI
1,5-deoxy-1,5-imino-D-mannitol
1,5-dideoxy-1,5-imino-D-glucitol
1-DEOXY-NOJIRIMYCIN
1-Deoxymannojirimycin
1-Deoxynojirimycin
1-Deoxynojirimycin (DNJ)
1-deoxy-nojirimycin
 
1-deoxynojirimycin
1hxk
1oim
5-amino-1,5-dideoxy-D-glucopyranose
Antibiotic S-GI
D-1-deoxynojirimycin
DNJ
Deoxynojirimycin
Moranoline
NOJ
S-GI
2
MiglustatPhase 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 [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
3
Somatostatin21238916-34-6, 51110-01-153481605
Synonyms:
growth hormone-inhibiting hormone (GHIH)
 
somatotropin release-inhibiting factor (SRIF)
somatotropin release-inhibiting hormone
4insulin4401
5
AcetylcholinePhase 075251-84-3187
Synonyms:
ACh
Acetyl choline ion
Acetylcholine Chloride
Acetylcholine cation
 
Acetylcholinium: acetyl-Choline
Choline acetate
Choline acetate (ester)
O-Acetylcholine
acetylcholine chloride
6Pyridostigmine BromidePhase 024101-26-8

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 ReactionNot yet recruitingNCT02185651Phase 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
8Dose Response Oxidation of a Sweet-corn Derived Sugar (PhytoSpherix) During Exercise in Endurance Trained AthletesNot yet recruitingNCT02909881

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 0, Muscle25
2 Glycogen Storage Disease Type 0, Muscle23 GYS1

Anatomical Context for Glycogen Storage Disease 0, Muscle

About this section

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

34
Heart

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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet