MCID: GLY061
MIFTS: 26

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 57 29 13 6 73
Muscle Glycogen Synthase Deficiency 57 53 75
Muscle Glycogen Storage Disease 0 57 75
Glycogen Storage Disease Type 0b 59 37
Gsd0b 57 75
Glycogen Storage Disease Due to Muscle and Heart Glycogen Synthase Deficiency 59
Glycogenosis Due to Muscle and Heart Glycogen Synthase Deficiency 59
Gsd Due to Muscle and Heart Glycogen Synthase Deficiency 59
Storage Disease, Glycogen, Type 0, Muscle 40
Glycogen Storage Disease Type 0, Muscle 53
Glycogenosis Type 0b 59
Gsd Type 0b 59
Gsd 0b 57

Characteristics:

Orphanet epidemiological data:

59
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:

57
Inheritance:
autosomal recessive

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


HPO:

32
glycogen storage disease 0, muscle:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Inborn errors of metabolism


External Ids:

OMIM 57 611556
Orphanet 59 ORPHA137625
ICD10 via Orphanet 34 E74.0
MedGen 42 C1969054
KEGG 37 H01949
UMLS 73 C1969054

Summaries for Glycogen Storage Disease 0, Muscle

UniProtKB/Swiss-Prot : 75 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. 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, and related phenotypes are cardiomyopathy and left ventricular hypertrophy

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:

57
Cardiovascular Heart:
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

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

Abdomen Liver:
glycogen present in normal amount on biopsy

Neurologic Central Nervous System:
seizures, tonic-clonic (rare)


Clinical features from OMIM:

611556

Human phenotypes related to Glycogen Storage Disease 0, Muscle:

32
# Description HPO Frequency HPO Source Accession
1 cardiomyopathy 32 HP:0001638
2 left ventricular hypertrophy 32 HP:0001712
3 generalized tonic-clonic seizures 32 HP:0002069
4 exercise intolerance 32 HP:0003546
5 decreased muscle glycogen content 32 HP:0012270

GenomeRNAi Phenotypes related to Glycogen Storage Disease 0, Muscle according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased POU5F1-GFP protein expression GR00184-A-1 8.62 FTL GYS1

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 29 GYS1

Anatomical Context for Glycogen Storage Disease 0, Muscle

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

41
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
(show top 50) (show all 110)
# 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.1384C> T (p.Arg462Ter) single nucleotide variant Pathogenic rs121434584 GRCh38 Chromosome 19, 48974658: 48974658
3 GYS1 NM_002103.4(GYS1): c.162_163delAG (p.Asp56Argfs) deletion Pathogenic rs587777375 GRCh38 Chromosome 19, 48991439: 48991440
4 GYS1 NM_002103.4(GYS1): c.162_163delAG (p.Asp56Argfs) deletion Pathogenic rs587777375 GRCh37 Chromosome 19, 49494696: 49494697
5 FTL; GYS1 NM_000146.3(FTL): c.163T> C (p.Leu55=) single nucleotide variant Benign rs2230267 GRCh38 Chromosome 19, 48965830: 48965830
6 FTL; GYS1 NM_000146.3(FTL): c.163T> C (p.Leu55=) single nucleotide variant Benign rs2230267 GRCh37 Chromosome 19, 49469087: 49469087
7 GYS1 NM_002103.4(GYS1): c.492+9C> T single nucleotide variant Conflicting interpretations of pathogenicity rs191213443 GRCh37 Chromosome 19, 49490442: 49490442
8 GYS1 NM_002103.4(GYS1): c.492+9C> T single nucleotide variant Conflicting interpretations of pathogenicity rs191213443 GRCh38 Chromosome 19, 48987185: 48987185
9 GYS1 NM_002103.4(GYS1): c.-19C> A single nucleotide variant Uncertain significance rs2287753 GRCh37 Chromosome 19, 49496388: 49496388
10 GYS1 NM_002103.4(GYS1): c.*1044T> G single nucleotide variant Uncertain significance rs886054564 GRCh38 Chromosome 19, 48968244: 48968244
11 GYS1 NM_002103.4(GYS1): c.*1044T> G single nucleotide variant Uncertain significance rs886054564 GRCh37 Chromosome 19, 49471501: 49471501
12 GYS1 NM_002103.4(GYS1): c.*824delT deletion Uncertain significance rs886054565 GRCh38 Chromosome 19, 48968464: 48968464
13 GYS1 NM_002103.4(GYS1): c.*824delT deletion Uncertain significance rs886054565 GRCh37 Chromosome 19, 49471721: 49471721
14 FTL; GYS1 NM_002103.4(GYS1): c.*659C> T single nucleotide variant Conflicting interpretations of pathogenicity rs367578611 GRCh37 Chromosome 19, 49471886: 49471886
15 FTL; GYS1 NM_002103.4(GYS1): c.*659C> T single nucleotide variant Conflicting interpretations of pathogenicity rs367578611 GRCh38 Chromosome 19, 48968629: 48968629
16 FTL; GYS1 NM_002103.4(GYS1): c.*450G> A single nucleotide variant Likely benign rs3745693 GRCh37 Chromosome 19, 49472095: 49472095
17 FTL; GYS1 NM_002103.4(GYS1): c.*450G> A single nucleotide variant Likely benign rs3745693 GRCh38 Chromosome 19, 48968838: 48968838
18 FTL; GYS1 NM_002103.4(GYS1): c.1848C> T (p.Ala616=) single nucleotide variant Conflicting interpretations of pathogenicity rs145789213 GRCh37 Chromosome 19, 49473074: 49473074
19 FTL; GYS1 NM_002103.4(GYS1): c.1848C> T (p.Ala616=) single nucleotide variant Conflicting interpretations of pathogenicity rs145789213 GRCh38 Chromosome 19, 48969817: 48969817
20 FTL; GYS1 NM_002103.4(GYS1): c.1615G> A (p.Glu539Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs561646250 GRCh37 Chromosome 19, 49474215: 49474215
21 FTL; GYS1 NM_002103.4(GYS1): c.1615G> A (p.Glu539Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs561646250 GRCh38 Chromosome 19, 48970958: 48970958
22 GYS1 NM_002103.4(GYS1): c.1549+7G> A single nucleotide variant Benign/Likely benign rs5449 GRCh37 Chromosome 19, 49477463: 49477463
23 GYS1 NM_002103.4(GYS1): c.1549+7G> A single nucleotide variant Benign/Likely benign rs5449 GRCh38 Chromosome 19, 48974206: 48974206
24 GYS1 NM_002103.4(GYS1): c.942-9G> A single nucleotide variant Uncertain significance rs762629200 GRCh38 Chromosome 19, 48982384: 48982384
25 GYS1 NM_002103.4(GYS1): c.942-9G> A single nucleotide variant Uncertain significance rs762629200 GRCh37 Chromosome 19, 49485641: 49485641
26 GYS1 NM_002103.4(GYS1): c.556G> A (p.Val186Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs138330298 GRCh38 Chromosome 19, 48985972: 48985972
27 GYS1 NM_002103.4(GYS1): c.556G> A (p.Val186Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs138330298 GRCh37 Chromosome 19, 49489229: 49489229
28 GYS1 NM_002103.4(GYS1): c.235C> T (p.Leu79=) single nucleotide variant Uncertain significance rs886054573 GRCh38 Chromosome 19, 48991367: 48991367
29 GYS1 NM_002103.4(GYS1): c.235C> T (p.Leu79=) single nucleotide variant Uncertain significance rs886054573 GRCh37 Chromosome 19, 49494624: 49494624
30 GYS1 NM_002103.4(GYS1): c.222G> A (p.Arg74=) single nucleotide variant Conflicting interpretations of pathogenicity rs748174034 GRCh38 Chromosome 19, 48991380: 48991380
31 GYS1 NM_002103.4(GYS1): c.222G> A (p.Arg74=) single nucleotide variant Conflicting interpretations of pathogenicity rs748174034 GRCh37 Chromosome 19, 49494637: 49494637
32 GYS1 NM_002103.4(GYS1): c.-19C> A single nucleotide variant Uncertain significance rs2287753 GRCh38 Chromosome 19, 48993131: 48993131
33 GYS1 NM_002103.4(GYS1): c.-182T> G single nucleotide variant Likely benign rs2287755 GRCh38 Chromosome 19, 48993294: 48993294
34 GYS1 NM_002103.4(GYS1): c.-182T> G single nucleotide variant Likely benign rs2287755 GRCh37 Chromosome 19, 49496551: 49496551
35 FTL; GYS1 NM_002103.4(GYS1): c.*841A> G single nucleotide variant Likely benign rs75797604 GRCh38 Chromosome 19, 48968447: 48968447
36 FTL; GYS1 NM_002103.4(GYS1): c.*841A> G single nucleotide variant Likely benign rs75797604 GRCh37 Chromosome 19, 49471704: 49471704
37 GYS1 NM_002103.4(GYS1): c.*78C> T single nucleotide variant Uncertain significance rs749720376 GRCh37 Chromosome 19, 49472467: 49472467
38 GYS1 NM_002103.4(GYS1): c.*78C> T single nucleotide variant Uncertain significance rs749720376 GRCh38 Chromosome 19, 48969210: 48969210
39 GYS1 NM_002103.4(GYS1): c.*26G> A single nucleotide variant Uncertain significance rs886054567 GRCh37 Chromosome 19, 49472519: 49472519
40 GYS1 NM_002103.4(GYS1): c.*26G> A single nucleotide variant Uncertain significance rs886054567 GRCh38 Chromosome 19, 48969262: 48969262
41 FTL; GYS1 NM_002103.4(GYS1): c.2207G> A (p.Arg736His) single nucleotide variant Conflicting interpretations of pathogenicity rs367919986 GRCh37 Chromosome 19, 49472552: 49472552
42 FTL; GYS1 NM_002103.4(GYS1): c.2207G> A (p.Arg736His) single nucleotide variant Conflicting interpretations of pathogenicity rs367919986 GRCh38 Chromosome 19, 48969295: 48969295
43 FTL; GYS1 NM_002103.4(GYS1): c.2013C> T (p.Asp671=) single nucleotide variant Conflicting interpretations of pathogenicity rs5452 GRCh37 Chromosome 19, 49472746: 49472746
44 FTL; GYS1 NM_002103.4(GYS1): c.2013C> T (p.Asp671=) single nucleotide variant Conflicting interpretations of pathogenicity rs5452 GRCh38 Chromosome 19, 48969489: 48969489
45 GYS1 NM_002103.4(GYS1): c.1990C> T (p.Arg664Trp) single nucleotide variant Uncertain significance rs886054568 GRCh37 Chromosome 19, 49472769: 49472769
46 GYS1 NM_002103.4(GYS1): c.1990C> T (p.Arg664Trp) single nucleotide variant Uncertain significance rs886054568 GRCh38 Chromosome 19, 48969512: 48969512
47 FTL; GYS1 NM_002103.4(GYS1): c.1926G> A (p.Val642=) single nucleotide variant Benign/Likely benign rs5451 GRCh37 Chromosome 19, 49472833: 49472833
48 FTL; GYS1 NM_002103.4(GYS1): c.1926G> A (p.Val642=) single nucleotide variant Benign/Likely benign rs5451 GRCh38 Chromosome 19, 48969576: 48969576
49 GYS1 NM_002103.4(GYS1): c.1170-13C> T single nucleotide variant Uncertain significance rs886054570 GRCh37 Chromosome 19, 49481427: 49481427
50 GYS1 NM_002103.4(GYS1): c.1170-13C> T single nucleotide variant Uncertain significance rs886054570 GRCh38 Chromosome 19, 48978170: 48978170

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:

37
# 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
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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