MCID: GLY061
MIFTS: 28

Glycogen Storage Disease 0, Muscle malady

Categories: Genetic diseases, Rare diseases, Metabolic diseases

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 52 12 68
Muscle Glycogen Synthase Deficiency 48 24 70
Glycogen Storage Disease Type 0, Muscle 48 24
Muscle Glycogen Storage Disease 0 70 27
Gsd0b 24 70
Glycogen Storage Disease Due to Muscle and Heart Glycogen Synthase Deficiency 54
 
Glycogenosis Due to Muscle and Heart Glycogen Synthase Deficiency 54
Gsd Due to Muscle and Heart Glycogen Synthase Deficiency 54
Glycogen Storage Disease Type 0b 54
Glycogenosis Type 0b 54
Gsd Type 0b 54
Gsd 0b 24

Characteristics:

Orphanet epidemiological data:

54
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:

64
glycogen storage disease 0, muscle:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 611556
Orphanet54 ORPHA137625
ICD10 via Orphanet31 E74.0
MedGen37 C1969054

Summaries for Glycogen Storage Disease 0, Muscle

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UniProtKB/Swiss-Prot:70 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 and liver.

Description from OMIM:52 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 disease 0, liver11.2
2glycogen storage disease10.1
3cardiomyopathy10.0
4syncope10.0

Symptoms & Phenotypes for Glycogen Storage Disease 0, Muscle

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Symptoms by clinical synopsis from OMIM:

611556

Clinical features from OMIM:

611556

Human phenotypes related to Glycogen Storage Disease 0, Muscle:

 64
id Description HPO Frequency HPO Source Accession
1 cardiomyopathy64 HP:0001638
2 left ventricular hypertrophy64 HP:0001712
3 generalized tonic-clonic seizures64 HP:0002069
4 exercise intolerance64 HP:0003546
5 decreased muscle glycogen content64 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 17)
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 [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
1-DeoxynojirimycinexperimentalPhase 12619130-96-21374
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
3Glycoside Hydrolase InhibitorsPhase 1128
4ImmunoglobulinsPhase 16045
5Cardiac GlycosidesPhase 1148
6Hypoglycemic AgentsPhase 15733
7Antiviral AgentsPhase 19732
8AntibodiesPhase 16045
9Anti-HIV AgentsPhase 13100
10Anti-Infective AgentsPhase 121402
11Anti-Retroviral AgentsPhase 13232
12
Somatostatinapproved22938916-34-6, 51110-01-153481605
Synonyms:
growth hormone-inhibiting hormone (GHIH)
 
somatotropin release-inhibiting factor (SRIF)
somatotropin release-inhibiting hormone
13Liver Extracts3868
14Insulin, Globin Zinc4523
15Hormones13979
16Calcium, Dietary5525
17insulin4524

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
4Energy Supplements to Improve Exercise Tolerance in Metabolic MyopathiesRecruitingNCT02448667
5Lipid and Glycogen Metabolism in Patients With Impaired Glucose Tolerance and Calcium Sensing Receptor MutationsRecruitingNCT02023489
6Dose Response Oxidation of a Sweet-corn Derived Sugar (PhytoSpherix) During Exercise in Endurance Trained AthletesNot yet recruitingNCT02909881

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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 0, Muscle27
2 Glycogen Storage Disease Type 0, Muscle24 GYS1

Anatomical Context for Glycogen Storage Disease 0, Muscle

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

36
Heart, Liver

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
2FTL;GYS1NM_000146.3(FTL): c.163T> C (p.Leu55=)SNVLikely pathogenicrs2230267GRCh38Chr 19, 48965830: 48965830
3GYS1NM_002103.4(GYS1): c.1384C> T (p.Arg462Ter)SNVPathogenicrs121434584GRCh37Chr 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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet