GSD0B
MCID: GLY061
MIFTS: 32

Glycogen Storage Disease 0, Muscle (GSD0B)

Categories: Genetic diseases, Metabolic diseases, Muscle diseases, Rare 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 70
Muscle Glycogen Synthase Deficiency 57 20 72
Muscle Glycogen Storage Disease 0 57 72
Glycogen Storage Disease Type 0b 58 36
Gsd0b 57 72
Glycogen Storage Disease Due to Muscle and Heart Glycogen Synthase Deficiency 58
Glycogenosis Due to Muscle and Heart Glycogen Synthase Deficiency 58
Gsd Due to Muscle and Heart Glycogen Synthase Deficiency 58
Storage Disease, Glycogen, Type 0, Muscle 39
Glycogen Storage Disease Type 0, Muscle 20
Glycogenosis Type 0b 58
Gsd Type 0b 58
Gsd 0b 57

Characteristics:

Orphanet epidemiological data:

58
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 (Updated 05-Apr-2021)
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: 58  
Inborn errors of metabolism


External Ids:

OMIM® 57 611556
KEGG 36 H01949
ICD10 via Orphanet 33 E74.0
Orphanet 58 ORPHA137625
MedGen 41 C1969054
UMLS 70 C1969054

Summaries for Glycogen Storage Disease 0, Muscle

KEGG : 36 Glycogen storage disease type 0b (GSD-0b), also known as muscle glycogen synthase deficiency, is an autosomal recessive disorder of glycogen metabolism. GSD-0b is caused by mutations in the GYS1 gene, which encodes muscle glycogen synthase. The role of muscle and heart glycogen is to provide critical energy during bursts of activity and sustained muscle work. It has been reported that patients showed muscle fatigability, hypertrophic cardiomyopathy, and an abnormal heart rate and blood pressure while exercising.

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 skin, and related phenotypes are left ventricular hypertrophy and stroke

UniProtKB/Swiss-Prot : 72 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.

More information 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 11.2
2 glycogen storage disease 10.3
3 atrial standstill 1 10.2
4 cardiac arrest 10.2
5 hypertrophic cardiomyopathy 10.2
6 syncope 10.2

Graphical network of the top 20 diseases related to Glycogen Storage Disease 0, Muscle:



Diseases related to Glycogen Storage Disease 0, Muscle

Symptoms & Phenotypes for Glycogen Storage Disease 0, Muscle

Human phenotypes related to Glycogen Storage Disease 0, Muscle:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 left ventricular hypertrophy 31 HP:0001712
2 stroke 31 HP:0001297
3 cardiomyopathy 31 HP:0001638
4 exercise intolerance 31 HP:0003546
5 decreased muscle glycogen content 31 HP:0012270
6 left atrial enlargement 31 HP:0031295
7 bilateral tonic-clonic seizure 31 HP:0002069

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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

Abdomen Liver:
glycogen present in normal amount on biopsy

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

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

Clinical features from OMIM®:

611556 (Updated 05-Apr-2021)

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:

40
Heart, Skin

Publications for Glycogen Storage Disease 0, Muscle

Articles related to Glycogen Storage Disease 0, Muscle:

# Title Authors PMID Year
1
Cardiomyopathy and exercise intolerance in muscle glycogen storage disease 0. 61 57 6
17928598 2007
2
Identification of a novel mutation in GYS1 (muscle-specific glycogen synthase) resulting in sudden cardiac death, that is diagnosable from skin fibroblasts. 57 6
19699667 2009
3
Glucose metabolism in mice lacking muscle glycogen synthase. 57
16306363 2005
4
Exercise capacity of mice genetically lacking muscle glycogen synthase: in mice, muscle glycogen is not essential for exercise. 57
15711014 2005
5
Abnormal cardiac development in the absence of heart glycogen. 57
15282316 2004
6
Cerebral energetics and the glycogen shunt: neurochemical basis of functional imaging. 57
11344262 2001
7
Muscle glycogen storage disease 0 presenting recurrent syncope with weakness and myalgia. 61
21958591 2012

Variations for Glycogen Storage Disease 0, Muscle

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

6 (show top 50) (show all 209)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GYS1 NM_002103.5(GYS1):c.1384C>T (p.Arg462Ter) SNV Pathogenic 16057 rs121434584 GRCh37: 19:49477915-49477915
GRCh38: 19:48974658-48974658
2 GYS1 NM_002103.5(GYS1):c.1204del (p.Arg402fs) Deletion Pathogenic 567037 rs1568619900 GRCh37: 19:49481380-49481380
GRCh38: 19:48978123-48978123
3 GYS1 NM_002103.5(GYS1):c.907C>T (p.Arg303Ter) SNV Pathogenic 965769 GRCh37: 19:49486011-49486011
GRCh38: 19:48982754-48982754
4 LOC119369037 , GYS1 NM_002103.5(GYS1):c.1615G>T (p.Glu539Ter) SNV Pathogenic 570876 rs561646250 GRCh37: 19:49474215-49474215
GRCh38: 19:48970958-48970958
5 GYS1 NM_002103.5(GYS1):c.2086C>T (p.Arg696Ter) SNV Pathogenic 997669 GRCh37: 19:49472673-49472673
GRCh38: 19:48969416-48969416
6 GYS1 NM_002103.5(GYS1):c.1894C>T (p.Gln632Ter) SNV Pathogenic 1033475 GRCh37: 19:49472865-49472865
GRCh38: 19:48969608-48969608
7 GYS1 NM_002103.5(GYS1):c.2027_2028del (p.Asp676fs) Deletion Pathogenic 1033476 GRCh37: 19:49472731-49472732
GRCh38: 19:48969474-48969475
8 GYS1 NM_002103.5(GYS1):c.119-2_120del Deletion Likely pathogenic 449031 rs1422043936 GRCh37: 19:49494739-49494742
GRCh38: 19:48991482-48991485
9 GYS1 NM_002103.5(GYS1):c.1170-2A>G SNV Likely pathogenic 940736 GRCh37: 19:49481416-49481416
GRCh38: 19:48978159-48978159
10 GYS1 NM_002103.5(GYS1):c.162_163del (p.Asp56fs) Deletion Likely pathogenic 128236 rs587777375 GRCh37: 19:49494696-49494697
GRCh38: 19:48991439-48991440
11 GYS1 NM_002103.5(GYS1):c.1229+1G>A SNV Likely pathogenic 855545 GRCh37: 19:49481354-49481354
GRCh38: 19:48978097-48978097
12 GYS1 NM_002103.5(GYS1):c.678+1G>A SNV Likely pathogenic 856123 GRCh37: 19:49489106-49489106
GRCh38: 19:48985849-48985849
13 FTL , LOC119369037 , GYS1 NM_002103.5(GYS1):c.1615G>A (p.Glu539Lys) SNV Conflicting interpretations of pathogenicity 329810 rs561646250 GRCh37: 19:49474215-49474215
GRCh38: 19:48970958-48970958
14 FTL , GYS1 NM_002103.5(GYS1):c.1848C>T (p.Ala616=) SNV Conflicting interpretations of pathogenicity 329809 rs145789213 GRCh37: 19:49473074-49473074
GRCh38: 19:48969817-48969817
15 FTL , GYS1 NM_002103.5(GYS1):c.2013C>T (p.Asp671=) SNV Conflicting interpretations of pathogenicity 329805 rs5452 GRCh37: 19:49472746-49472746
GRCh38: 19:48969489-48969489
16 GYS1 NM_002103.5(GYS1):c.1332C>T (p.Cys444=) SNV Conflicting interpretations of pathogenicity 676335 rs377125421 GRCh37: 19:49477967-49477967
GRCh38: 19:48974710-48974710
17 FTL , GYS1 NM_002103.5(GYS1):c.2043C>T (p.Ala681=) SNV Conflicting interpretations of pathogenicity 369281 rs142265031 GRCh37: 19:49472716-49472716
GRCh38: 19:48969459-48969459
18 GYS1 NM_002103.5(GYS1):c.222G>A (p.Arg74=) SNV Uncertain significance 329830 rs748174034 GRCh37: 19:49494637-49494637
GRCh38: 19:48991380-48991380
19 GYS1 NM_002103.5(GYS1):c.1021G>A (p.Val341Ile) SNV Uncertain significance 329819 rs751121252 GRCh37: 19:49485553-49485553
GRCh38: 19:48982296-48982296
20 GYS1 NM_002103.5(GYS1):c.395A>G (p.Glu132Gly) SNV Uncertain significance 567434 rs183816843 GRCh37: 19:49490548-49490548
GRCh38: 19:48987291-48987291
21 GYS1 NM_002103.5(GYS1):c.213G>C (p.Gln71His) SNV Uncertain significance 642436 rs200998100 GRCh37: 19:49494646-49494646
GRCh38: 19:48991389-48991389
22 GYS1 NM_002103.5(GYS1):c.1236C>G (p.Ser412Arg) SNV Uncertain significance 662709 rs753922665 GRCh37: 19:49481253-49481253
GRCh38: 19:48977996-48977996
23 GYS1 NM_002103.5(GYS1):c.1077_1078delinsAA (p.Gln360Lys) Indel Uncertain significance 858591 GRCh37: 19:49484878-49484879
GRCh38: 19:48981621-48981622
24 GYS1 NM_002103.5(GYS1):c.425C>T (p.Pro142Leu) SNV Uncertain significance 941325 GRCh37: 19:49490518-49490518
GRCh38: 19:48987261-48987261
25 GYS1 NM_002103.5(GYS1):c.114C>G (p.Asn38Lys) SNV Uncertain significance 946451 GRCh37: 19:49496256-49496256
GRCh38: 19:48992999-48992999
26 GYS1 NM_002103.5(GYS1):c.1020C>A (p.Asp340Glu) SNV Uncertain significance 955642 GRCh37: 19:49485554-49485554
GRCh38: 19:48982297-48982297
27 GYS1 NM_002103.5(GYS1):c.754G>A (p.Ala252Thr) SNV Uncertain significance 391854 rs376523274 GRCh37: 19:49488787-49488787
GRCh38: 19:48985530-48985530
28 GYS1 NM_002103.5(GYS1):c.666C>A (p.Asn222Lys) SNV Uncertain significance 1037659 GRCh37: 19:49489119-49489119
GRCh38: 19:48985862-48985862
29 GYS1 NM_002103.5(GYS1):c.3G>T (p.Met1Ile) SNV Uncertain significance 1039847 GRCh37: 19:49496367-49496367
GRCh38: 19:48993110-48993110
30 GYS1 NM_002103.5(GYS1):c.362C>T (p.Ala121Val) SNV Uncertain significance 1040534 GRCh37: 19:49490581-49490581
GRCh38: 19:48987324-48987324
31 GYS1 NM_002103.5(GYS1):c.1A>C (p.Met1Leu) SNV Uncertain significance 430320 rs748334413 GRCh37: 19:49496369-49496369
GRCh38: 19:48993112-48993112
32 GYS1 NM_002103.5(GYS1):c.1473G>A (p.Val491=) SNV Uncertain significance 1041860 GRCh37: 19:49477546-49477546
GRCh38: 19:48974289-48974289
33 GYS1 NM_002103.5(GYS1):c.1859A>G (p.His620Arg) SNV Uncertain significance 1043805 GRCh37: 19:49473063-49473063
GRCh38: 19:48969806-48969806
34 GYS1 NM_002103.5(GYS1):c.-26C>T SNV Uncertain significance 329832 rs202114467 GRCh37: 19:49496395-49496395
GRCh38: 19:48993138-48993138
35 GYS1 NM_002103.5(GYS1):c.1305G>A (p.Thr435=) SNV Uncertain significance 329813 rs147610727 GRCh37: 19:49481184-49481184
GRCh38: 19:48977927-48977927
36 FTL , GYS1 NM_002103.5(GYS1):c.*868A>G SNV Uncertain significance 329793 rs571576339 GRCh37: 19:49471677-49471677
GRCh38: 19:48968420-48968420
37 FTL , GYS1 NM_002103.5(GYS1):c.*370A>C SNV Uncertain significance 329800 rs185366453 GRCh37: 19:49472175-49472175
GRCh38: 19:48968918-48968918
38 FTL , GYS1 NM_002103.5(GYS1):c.*659C>T SNV Uncertain significance 329797 rs367578611 GRCh37: 19:49471886-49471886
GRCh38: 19:48968629-48968629
39 FTL , GYS1 NM_002103.5(GYS1):c.2207G>A (p.Arg736His) SNV Uncertain significance 329804 rs367919986 GRCh37: 19:49472552-49472552
GRCh38: 19:48969295-48969295
40 FTL , GYS1 NM_002103.5(GYS1):c.*301G>A SNV Uncertain significance 329801 rs147489255 GRCh37: 19:49472244-49472244
GRCh38: 19:48968987-48968987
41 FTL , GYS1 NM_002103.5(GYS1):c.*1113_*1116del Deletion Uncertain significance 329790 rs148396922 GRCh37: 19:49471429-49471432
GRCh38: 19:48968172-48968175
42 GYS1 NM_002103.5(GYS1):c.741G>A (p.Ala247=) SNV Uncertain significance 329821 rs3745692 GRCh37: 19:49488800-49488800
GRCh38: 19:48985543-48985543
43 GYS1 NM_002103.5(GYS1):c.448G>A (p.Asp150Asn) SNV Uncertain significance 942370 GRCh37: 19:49490495-49490495
GRCh38: 19:48987238-48987238
44 GYS1 NM_002103.5(GYS1):c.134C>T (p.Thr45Met) SNV Uncertain significance 945011 GRCh37: 19:49494725-49494725
GRCh38: 19:48991468-48991468
45 GYS1 NM_002103.5(GYS1):c.650C>T (p.Ala217Val) SNV Uncertain significance 949974 GRCh37: 19:49489135-49489135
GRCh38: 19:48985878-48985878
46 GYS1 NM_002103.5(GYS1):c.40G>C (p.Gly14Arg) SNV Uncertain significance 964057 GRCh37: 19:49496330-49496330
GRCh38: 19:48993073-48993073
47 GYS1 NM_002103.5(GYS1):c.1879G>A (p.Glu627Lys) SNV Uncertain significance 576955 rs962330001 GRCh37: 19:49473043-49473043
GRCh38: 19:48969786-48969786
48 GYS1 NM_002103.5(GYS1):c.1315_1316delinsAA (p.Ser439Asn) Indel Uncertain significance 649510 rs1600135048 GRCh37: 19:49477983-49477984
GRCh38: 19:48974726-48974727
49 GYS1 NM_002103.5(GYS1):c.2214A>T (p.Ter738Tyr) SNV Uncertain significance 966238 GRCh37: 19:49472545-49472545
GRCh38: 19:48969288-48969288
50 GYS1 NM_002103.4(GYS1):c.-199T>C SNV Uncertain significance 329837 rs770497351 GRCh37: 19:49496568-49496568
GRCh38: 19:48993311-48993311

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
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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