MCID: GLY009
MIFTS: 26

Glycogen Storage Disease Xv

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

Aliases & Classifications for Glycogen Storage Disease Xv

MalaCards integrated aliases for Glycogen Storage Disease Xv:

Name: Glycogen Storage Disease Xv 57 12 75 29 13 6 73
Glycogen Storage Disease Type Xv 12 59 37
Glycogenin Deficiency 57 75
Gyg1 Deficiency 57 75
Gsd Xv 57 75
Gsd15 57 75
Glycogen Storage Disease with Severe Cardiomyopathy Due to Glycogenin Deficiency 59
Glycogenosis with Severe Cardiomyopathy Due to Glycogenin Deficiency 59
Gsd with Severe Cardiomyopathy Due to Glycogenin Deficiency 59
Storage Disease, Glycogen, Type Xv 40
Glycogen Storage Disease Type 15 59
Glycogen Storage Disease 15 75
Glycogenosis Type 15 59
Glycogenosis Type Xv 59
Gsd Type 15 59
Gsd Type Xv 59

Characteristics:

Orphanet epidemiological data:

59
glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
glycogen storage disease xv:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Glycogen Storage Disease Xv

UniProtKB/Swiss-Prot : 75 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, is also known as glycogen storage disease type xv, 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 is Starch and sucrose metabolism. Affiliated tissues include skeletal muscle and heart, and related phenotypes are cardiomyopathy and ventricular fibrillation

Description from OMIM: 613507

Symptoms & Phenotypes for Glycogen Storage Disease Xv

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Glycogen Storage Disease Xv:

59 32 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cardiomyopathy 59 32 frequent (33%) Frequent (79-30%) HP:0001638
2 ventricular fibrillation 59 32 frequent (33%) Frequent (79-30%) HP:0001663
3 ventricular hypertrophy 59 32 frequent (33%) Frequent (79-30%) HP:0001714
4 palpitations 59 32 frequent (33%) Frequent (79-30%) HP:0001962
5 vertigo 59 32 frequent (33%) Frequent (79-30%) HP:0002321
6 exertional dyspnea 59 32 frequent (33%) Frequent (79-30%) HP:0002875
7 decreased muscle mass 59 32 frequent (33%) Frequent (79-30%) HP:0003199
8 upper limb muscle weakness 59 32 frequent (33%) Frequent (79-30%) HP:0003484
9 shoulder girdle muscle weakness 59 32 frequent (33%) Frequent (79-30%) HP:0003547
10 neck flexor weakness 59 32 frequent (33%) Frequent (79-30%) HP:0003722
11 ventricular tachycardia 59 32 frequent (33%) Frequent (79-30%) HP:0004756
12 left ventricular septal hypertrophy 59 32 frequent (33%) Frequent (79-30%) HP:0005144
13 abdominal wall muscle weakness 59 32 frequent (33%) Frequent (79-30%) HP:0009023
14 foot dorsiflexor weakness 59 32 frequent (33%) Frequent (79-30%) HP:0009027
15 t-wave inversion 59 32 frequent (33%) Frequent (79-30%) HP:0010872
16 right bundle branch block 59 32 frequent (33%) Frequent (79-30%) HP:0011712
17 st segment elevation 59 32 frequent (33%) Frequent (79-30%) HP:0012251
18 decreased muscle glycogen content 59 32 frequent (33%) Frequent (79-30%) HP:0012270
19 cardiomyocyte hypertrophy 59 32 frequent (33%) Frequent (79-30%) HP:0031319
20 increased mitochondrial number 59 32 frequent (33%) Frequent (79-30%) HP:0040014
21 emg: myopathic abnormalities 59 Frequent (79-30%)
22 arrhythmia 59 Frequent (79-30%)
23 diabetes mellitus 59 Excluded (0%)
24 hypothyroidism 59 Excluded (0%)
25 abnormal levels of creatine kinase in blood 59 Excluded (0%)
26 muscle weakness 32 HP:0001324
27 ventricular arrhythmia 32 HP:0004308
28 emg 32 frequent (33%) HP:0003458

UMLS symptoms related to Glycogen Storage Disease Xv:


muscle weakness

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:

41
Skeletal Muscle, Heart

Publications for Glycogen Storage Disease Xv

Variations for Glycogen Storage Disease Xv

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

75
# Symbol AA change Variation ID SNP ID
1 GYG1 p.Thr83Met VAR_063768 rs267606858

ClinVar genetic disease variations for Glycogen Storage Disease Xv:

6
(show all 11)
# Gene Variation Type Significance SNP ID Assembly Location
1 GYG1 GYG1, 1-BP DEL, 487G deletion Pathogenic
2 GYG1 NM_004130.3(GYG1): c.248C> T (p.Thr83Met) single nucleotide variant Pathogenic rs267606858 GRCh37 Chromosome 3, 148714193: 148714193
3 GYG1 NM_004130.3(GYG1): c.248C> T (p.Thr83Met) single nucleotide variant Pathogenic rs267606858 GRCh38 Chromosome 3, 148996406: 148996406
4 GYG1 NM_004130.3(GYG1): c.159A> G (p.Thr53=) single nucleotide variant Benign rs148619511 GRCh37 Chromosome 3, 148714104: 148714104
5 GYG1 NM_004130.3(GYG1): c.159A> G (p.Thr53=) single nucleotide variant Benign rs148619511 GRCh38 Chromosome 3, 148996317: 148996317
6 GYG1 NM_004130.3(GYG1): c.452A> T (p.His151Leu) single nucleotide variant Benign rs35054019 GRCh37 Chromosome 3, 148714662: 148714662
7 GYG1 NM_004130.3(GYG1): c.452A> T (p.His151Leu) single nucleotide variant Benign rs35054019 GRCh38 Chromosome 3, 148996875: 148996875
8 GYG1 NM_004130.3(GYG1): c.98G> A (p.Arg33Lys) single nucleotide variant Likely benign rs146101365 GRCh38 Chromosome 3, 148994232: 148994232
9 GYG1 NM_004130.3(GYG1): c.98G> A (p.Arg33Lys) single nucleotide variant Likely benign rs146101365 GRCh37 Chromosome 3, 148712019: 148712019
10 GYG1 NM_004130.3(GYG1): c.961C> T (p.Arg321Trp) single nucleotide variant Uncertain significance rs138596591 GRCh37 Chromosome 3, 148744628: 148744628
11 GYG1 NM_004130.3(GYG1): c.961C> T (p.Arg321Trp) single nucleotide variant Uncertain significance rs138596591 GRCh38 Chromosome 3, 149026841: 149026841

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:

37
# Name Kegg Source Accession
1 Starch and sucrose metabolism hsa00500

GO Terms for Glycogen Storage Disease Xv

Sources for Glycogen Storage Disease Xv

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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