MCID: GLY061
MIFTS: 24

Glycogen Storage Disease 0, Muscle

Categories: Genetic diseases, Rare diseases, Metabolic diseases

Aliases & Classifications for Glycogen Storage Disease 0, Muscle

MalaCards integrated aliases for Glycogen Storage Disease 0, Muscle:

Name: Glycogen Storage Disease 0, Muscle 53 28 13 69
Muscle Glycogen Synthase Deficiency 53 49 71
Muscle Glycogen Storage Disease 0 53 71
Glycogen Storage Disease Type 0b 55 36
Gsd0b 53 71
Glycogen Storage Disease Due to Muscle and Heart Glycogen Synthase Deficiency 55
Glycogenosis Due to Muscle and Heart Glycogen Synthase Deficiency 55
Gsd Due to Muscle and Heart Glycogen Synthase Deficiency 55
Glycogen Storage Disease Type 0, Muscle 49
Glycogenosis Type 0b 55
Gsd Type 0b 55
Gsd 0b 53

Characteristics:

Orphanet epidemiological data:

55
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;

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
risk of sudden death in childhood due to cardiac arrest


HPO:

31
glycogen storage disease 0, muscle:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 55  
Inborn errors of metabolism


External Ids:

OMIM 53 611556
Orphanet 55 ORPHA137625
ICD10 via Orphanet 33 E74.0
MedGen 39 C1969054
KEGG 36 H01949
UMLS 69 C1969054

Summaries for Glycogen Storage Disease 0, Muscle

UniProtKB/Swiss-Prot : 71 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), and among its related pathways/superpathways are Starch and sucrose metabolism and Insulin signaling pathway. Affiliated tissues include heart and testes.

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:

# Related Disease Score Top Affiliating Genes
1 glycogen storage disease 0, liver 11.3
2 glycogen storage disease 10.2
3 syncope 10.1

Symptoms & Phenotypes for Glycogen Storage Disease 0, Muscle

Symptoms via clinical synopsis from OMIM:

53
CardiovascularHeart:
left ventricular hypertrophy
left atrial enlargement
decrease in stroke volume on exercise testing
myocyte hypertrophy without disarray or fibrosis seen on biopsy
lack of glycogen in cardiomyocytes

MuscleSoftTissue:
muscle fatigability
low maximum workload on exercise testing
glycogen deficiency in muscle fibers
predominance of oxidative fibers
mitochondrial proliferation

AbdomenLiver:
glycogen present in normal amount on biopsy

NeurologicCentralNervousSystem:
seizures, tonic-clonic (rare)


Clinical features from OMIM:

611556

Human phenotypes related to Glycogen Storage Disease 0, Muscle:

31
# Description HPO Frequency HPO Source Accession
1 cardiomyopathy 31 HP:0001638
2 generalized tonic-clonic seizures 31 HP:0002069
3 left ventricular hypertrophy 31 HP:0001712
4 exercise intolerance 31 HP:0003546
5 decreased muscle glycogen content 31 HP:0012270

Drugs & Therapeutics for Glycogen Storage Disease 0, Muscle

Search Clinical Trials , 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:

# Genetic test Affiliating Genes
1 Glycogen Storage Disease 0, Muscle 28 GYS1

Anatomical Context for Glycogen Storage Disease 0, Muscle

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

38
Heart, Testes

Publications for Glycogen Storage Disease 0, Muscle

Articles related to Glycogen Storage Disease 0, Muscle:

# Title Authors Year
1
Muscle glycogen storage disease 0 presenting recurrent syncope with weakness and myalgia. ( 21958591 )
2012
2
Cardiomyopathy and exercise intolerance in muscle glycogen storage disease 0. ( 17928598 )
2007

Variations for Glycogen Storage Disease 0, Muscle

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

6
# 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

Pathways related to Glycogen Storage Disease 0, Muscle according to KEGG:

36
# Name Kegg Source Accession
1 Starch and sucrose metabolism hsa00500
2 Insulin signaling pathway hsa04910

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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....