GSD15
MCID: GLY009
MIFTS: 38

Glycogen Storage Disease Xv (GSD15)

Categories: Blood diseases, Cardiovascular diseases, Genetic diseases, Liver diseases, Metabolic diseases, Muscle diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Glycogen Storage Disease Xv

MalaCards integrated aliases for Glycogen Storage Disease Xv:

Name: Glycogen Storage Disease Xv 57 12 72 29 13 6 15 70
Glycogen Storage Disease Type Xv 12 58 36
Glycogenin Deficiency 57 72
Gyg1 Deficiency 57 72
Gsd Xv 57 72
Gsd15 57 72
Glycogen Storage Disease with Severe Cardiomyopathy Due to Glycogenin Deficiency 58
Glycogenosis with Severe Cardiomyopathy Due to Glycogenin Deficiency 58
Gsd with Severe Cardiomyopathy Due to Glycogenin Deficiency 58
Storage Disease, Glycogen, Type Xv 39
Glycogen Storage Disease Type 15 58
Glycogen Storage Disease 15 72
Glycogenosis Type 15 58
Glycogenosis Type Xv 58
Gsd Type 15 58
Gsd Type Xv 58

Characteristics:

Orphanet epidemiological data:

58
glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive


HPO:

31
glycogen storage disease xv:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


Summaries for Glycogen Storage Disease Xv

UniProtKB/Swiss-Prot : 72 Glycogen storage disease 15: A metabolic disorder resulting in muscle weakness, associated with the glycogen depletion in skeletal muscle, and cardiac arrhythmia, associated with the accumulation of abnormal storage material in the heart. The skeletal muscle shows a marked predominance of slow-twitch, oxidative muscle fibers and mitochondrial proliferation.

MalaCards based summary : Glycogen Storage Disease Xv, also known as glycogen storage disease type xv, is related to atrial standstill 1 and glycogen storage disease, and has symptoms including muscle weakness An important gene associated with Glycogen Storage Disease Xv is GYG1 (Glycogenin 1), and among its related pathways/superpathways are Starch and sucrose metabolism and Translation Factors. Affiliated tissues include skeletal muscle, and related phenotypes are decreased muscle mass and emg: myopathic abnormalities

Disease Ontology : 12 A glycogen storage disease characterized by muscle weakness and cardiac abnormalities caused and has material basis in mutation in the GYG1 gene that encodes glycogenin-1.

KEGG : 36 Glycogen storage disease type XV(GSD-XV) is an autosomal recessive disorder of glycogen metabolism. GSD-XV is caused by mutations in the GYG1 gene, which encodes the glycogenin. The typical presentation is muscle weakness and cardiomyopathy.

More information from OMIM: 613507

Related Diseases for Glycogen Storage Disease Xv

Graphical network of the top 20 diseases related to Glycogen Storage Disease Xv:



Diseases related to Glycogen Storage Disease Xv

Symptoms & Phenotypes for Glycogen Storage Disease Xv

Human phenotypes related to Glycogen Storage Disease Xv:

58 31 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 decreased muscle mass 58 31 frequent (33%) Frequent (79-30%) HP:0003199
2 emg: myopathic abnormalities 58 31 frequent (33%) Frequent (79-30%) HP:0003458
3 vertigo 58 31 frequent (33%) Frequent (79-30%) HP:0002321
4 cardiomyopathy 58 31 frequent (33%) Frequent (79-30%) HP:0001638
5 right bundle branch block 58 31 frequent (33%) Frequent (79-30%) HP:0011712
6 exertional dyspnea 58 31 frequent (33%) Frequent (79-30%) HP:0002875
7 abdominal wall muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0009023
8 upper limb muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0003484
9 ventricular tachycardia 58 31 frequent (33%) Frequent (79-30%) HP:0004756
10 foot dorsiflexor weakness 58 31 frequent (33%) Frequent (79-30%) HP:0009027
11 palpitations 58 31 frequent (33%) Frequent (79-30%) HP:0001962
12 shoulder girdle muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0003547
13 ventricular hypertrophy 58 31 frequent (33%) Frequent (79-30%) HP:0001714
14 ventricular fibrillation 58 31 frequent (33%) Frequent (79-30%) HP:0001663
15 neck flexor weakness 58 31 frequent (33%) Frequent (79-30%) HP:0003722
16 t-wave inversion 58 31 frequent (33%) Frequent (79-30%) HP:0010872
17 ventricular septal hypertrophy 58 31 frequent (33%) Frequent (79-30%) HP:0005144
18 st segment elevation 58 31 frequent (33%) Frequent (79-30%) HP:0012251
19 decreased muscle glycogen content 58 31 frequent (33%) Frequent (79-30%) HP:0012270
20 cardiomyocyte hypertrophy 58 31 frequent (33%) Frequent (79-30%) HP:0031319
21 increased mitochondrial number 58 31 frequent (33%) Frequent (79-30%) HP:0040014
22 diabetes mellitus 58 Excluded (0%)
23 hypothyroidism 58 Excluded (0%)
24 muscle weakness 31 HP:0001324
25 abnormal levels of creatine kinase in blood 58 Excluded (0%)
26 arrhythmia 58 Frequent (79-30%)
27 ventricular arrhythmia 31 HP:0004308

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Muscle Soft Tissue:
muscle weakness
mitochondrial proliferation
glycogen depletion in skeletal muscle
marked predominance of slow-twitch, oxidative (type 1) muscle fibers

Cardiovascular Heart:
right bundle branch block
ventricular arrhythmias
hypertrophic cardiomyocytes
central vacuoles containing pas-positive material
cytoplasmic glycogen depletion

Clinical features from OMIM®:

613507 (Updated 05-Apr-2021)

UMLS symptoms related to Glycogen Storage Disease Xv:


muscle weakness

GenomeRNAi Phenotypes related to Glycogen Storage Disease Xv according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased NANOG protein expression GR00184-A-3 9.4 EIF2B3 EIF2B4
2 Decreased NANOG protein expression GR00184-A-6 9.4 EIF2B3 EIF2B4
3 Decreased NANOG protein expression GR00184-A-8 9.4 EIF2B3 EIF2B4

Drugs & Therapeutics for Glycogen Storage Disease Xv

Search Clinical Trials , NIH Clinical Center for Glycogen Storage Disease Xv

Genetic Tests for Glycogen Storage Disease Xv

Genetic tests related to Glycogen Storage Disease Xv:

# Genetic test Affiliating Genes
1 Glycogen Storage Disease Xv 29 GYG1

Anatomical Context for Glycogen Storage Disease Xv

MalaCards organs/tissues related to Glycogen Storage Disease Xv:

40
Skeletal Muscle

Publications for Glycogen Storage Disease Xv

Articles related to Glycogen Storage Disease Xv:

# Title Authors PMID Year
1
Glycogenin-1 deficiency and inactivated priming of glycogen synthesis. 57 6
20357282 2010
2
Clinical heterogeneity and phenotype/genotype findings in 5 families with GYG1 deficiency. 6
29264399 2017
3
Cardiomyopathy as presenting sign of glycogenin-1 deficiency-report of three cases and review of the literature. 6
27718144 2017
4
Late-onset polyglucosan body myopathy in five patients with a homozygous mutation in GYG1. 6
26652229 2016
5
A new muscle glycogen storage disease associated with glycogenin-1 deficiency. 6
25272951 2014
6
Molecular pathogenesis of a new glycogenosis caused by a glycogenin-1 mutation. 6
22198226 2012
7
Functional characterization of GYG1 variants in two patients with myopathy and glycogenin-1 deficiency. 61
31791869 2019
8
Conformational plasticity of glycogenin and its maltosaccharide substrate during glycogen biogenesis. 61
22160680 2011

Variations for Glycogen Storage Disease Xv

ClinVar genetic disease variations for Glycogen Storage Disease Xv:

6 (show all 26)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GYG1 NM_004130.4(GYG1):c.819T>A (p.Tyr273Ter) SNV Pathogenic 850059 GRCh37: 3:148742050-148742050
GRCh38: 3:149024263-149024263
2 GYG1 NM_004130.4(GYG1):c.631del (p.Val211fs) Deletion Pathogenic 855451 GRCh37: 3:148741862-148741862
GRCh38: 3:149024075-149024075
3 GYG1 NM_004130.3(GYG1):c.154G>T (p.Glu52Ter) SNV Pathogenic 569450 rs1559834349 GRCh37: 3:148714099-148714099
GRCh38: 3:148996312-148996312
4 GYG1 NM_004130.3(GYG1):c.143+3G>C SNV Pathogenic 162661 rs370652040 GRCh37: 3:148712067-148712067
GRCh38: 3:148994280-148994280
5 GYG1 NM_004130.3(GYG1):c.143+3G>C SNV Pathogenic 162661 rs370652040 GRCh37: 3:148712067-148712067
GRCh38: 3:148994280-148994280
6 GYG1 NM_004130.3(GYG1):c.487del (p.Asp163fs) Deletion Pathogenic 162665 rs727502871 GRCh37: 3:148727065-148727065
GRCh38: 3:149009278-149009278
7 GYG1 NM_004130.4(GYG1):c.758_761dup (p.Thr255fs) Duplication Pathogenic 1028195 GRCh37: 3:148741988-148741989
GRCh38: 3:149024201-149024202
8 GYG1 NM_004130.3(GYG1):c.248C>T (p.Thr83Met) SNV Pathogenic 5954 rs267606858 GRCh37: 3:148714193-148714193
GRCh38: 3:148996406-148996406
9 GYG1 GYG1, 1-BP DEL, 487G Deletion Pathogenic 5953 GRCh37:
GRCh38:
10 GYG1 NM_004130.3(GYG1):c.304G>C (p.Asp102His) SNV Pathogenic/Likely pathogenic 162663 rs143137713 GRCh37: 3:148714249-148714249
GRCh38: 3:148996462-148996462
11 GYG1 NM_004130.4(GYG1):c.1039A>G (p.Thr347Ala) SNV Uncertain significance 954247 GRCh37: 3:148744706-148744706
GRCh38: 3:149026919-149026919
12 GYG1 NM_001184721.1(GYG1):c.609-2498A>T SNV Uncertain significance 577858 rs1211466583 GRCh37: 3:148742049-148742049
GRCh38: 3:149024262-149024262
13 GYG1 NM_004130.3(GYG1):c.662A>C (p.Asn221Thr) SNV Uncertain significance 642738 rs1412348949 GRCh37: 3:148741893-148741893
GRCh38: 3:149024106-149024106
14 GYG1 NM_004130.4(GYG1):c.872G>T (p.Cys291Phe) SNV Uncertain significance 1039050 GRCh37: 3:148744282-148744282
GRCh38: 3:149026495-149026495
15 GYG1 NM_004130.4(GYG1):c.206C>G (p.Ser69Cys) SNV Uncertain significance 1045088 GRCh37: 3:148714151-148714151
GRCh38: 3:148996364-148996364
16 GYG1 NM_004130.4(GYG1):c.66G>A (p.Leu22=) SNV Uncertain significance 935412 GRCh37: 3:148711987-148711987
GRCh38: 3:148994200-148994200
17 GYG1 NM_004130.3(GYG1):c.883G>A (p.Asp295Asn) SNV Uncertain significance 649105 rs202085215 GRCh37: 3:148744550-148744550
GRCh38: 3:149026763-149026763
18 GYG1 NM_004130.4(GYG1):c.68G>A (p.Gly23Glu) SNV Uncertain significance 969811 GRCh37: 3:148711989-148711989
GRCh38: 3:148994202-148994202
19 GYG1 NM_004130.3(GYG1):c.439A>G (p.Asn147Asp) SNV Uncertain significance 646200 rs140175164 GRCh37: 3:148714649-148714649
GRCh38: 3:148996862-148996862
20 GYG1 NM_004130.3(GYG1):c.866G>T (p.Gly289Val) SNV Uncertain significance 548588 rs1553733613 GRCh37: 3:148744276-148744276
GRCh38: 3:149026489-149026489
21 GYG1 NM_004130.3(GYG1):c.961C>T (p.Arg321Trp) SNV Uncertain significance 542120 rs138596591 GRCh37: 3:148744628-148744628
GRCh38: 3:149026841-149026841
22 GYG1 NM_004130.3(GYG1):c.98G>A (p.Arg33Lys) SNV Likely benign 542121 rs146101365 GRCh37: 3:148712019-148712019
GRCh38: 3:148994232-148994232
23 GYG1 NM_004130.3(GYG1):c.609G>A (p.Val203=) SNV Benign 385794 rs75445811 GRCh37: 3:148741840-148741840
GRCh38: 3:149024053-149024053
24 GYG1 NM_004130.3(GYG1):c.452A>T (p.His151Leu) SNV Benign 516905 rs35054019 GRCh37: 3:148714662-148714662
GRCh38: 3:148996875-148996875
25 GYG1 NM_004130.3(GYG1):c.159A>G (p.Thr53=) SNV Benign 380453 rs148619511 GRCh37: 3:148714104-148714104
GRCh38: 3:148996317-148996317
26 GYG1 NM_004130.3(GYG1):c.137C>G (p.Ser46Cys) SNV Benign 383918 rs142784073 GRCh37: 3:148712058-148712058
GRCh38: 3:148994271-148994271

UniProtKB/Swiss-Prot genetic disease variations for Glycogen Storage Disease Xv:

72
# Symbol AA change Variation ID SNP ID
1 GYG1 p.Thr83Met VAR_063768 rs267606858

Expression for Glycogen Storage Disease Xv

Search GEO for disease gene expression data for Glycogen Storage Disease Xv.

Pathways for Glycogen Storage Disease Xv

Pathways related to Glycogen Storage Disease Xv according to KEGG:

36
# Name Kegg Source Accession
1 Starch and sucrose metabolism hsa00500

Pathways related to Glycogen Storage Disease Xv according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.41 EIF2B4 EIF2B3

GO Terms for Glycogen Storage Disease Xv

Cellular components related to Glycogen Storage Disease Xv according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 eukaryotic translation initiation factor 2B complex GO:0005851 8.62 EIF2B4 EIF2B3

Biological processes related to Glycogen Storage Disease Xv according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 translational initiation GO:0006413 9.32 EIF2B4 EIF2B3
2 response to glucose GO:0009749 9.26 EIF2B4 EIF2B3
3 response to peptide hormone GO:0043434 9.16 EIF2B4 EIF2B3
4 response to heat GO:0009408 8.96 EIF2B4 EIF2B3
5 oligodendrocyte development GO:0014003 8.62 EIF2B4 EIF2B3

Molecular functions related to Glycogen Storage Disease Xv according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 translation initiation factor activity GO:0003743 8.62 EIF2B4 EIF2B3

Sources for Glycogen Storage Disease Xv

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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