MCID: GLY059
MIFTS: 22

Glycogen Storage Disease Xiii

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

Aliases & Classifications for Glycogen Storage Disease Xiii

MalaCards integrated aliases for Glycogen Storage Disease Xiii:

Name: Glycogen Storage Disease Xiii 57 75 13 73
Glycogen Storage Disease Type 13 53 29 6
Enolase-Beta Deficiency 57 53 75
Enolase 3 Deficiency 57 53 75
Gsd13 57 53 75
Glycogen Storage Disease 13 53 75
Gsd Xiii 57 75
Glycogen Storage Disease Due to Muscle Beta-Enolase Deficiency 59
Glycogenosis Due to Muscle Beta-Enolase Deficiency 59
Gsd Due to Muscle Beta-Enolase Deficiency 59
Muscle-Specific Enolase-Beta Deficiency 75
Glycogen Storage Disease Type Xiii 37
Storage Disease, Glycogen, Type 13 40
Muscular Enolase Deficiency 59
Muscle Enolase Deficiency 59
Glycogenosis Type Xiii 75
Glycogenosis Type 13 59
Gsdxiii 59

Characteristics:

Orphanet epidemiological data:

59
glycogen storage disease due to muscle beta-enolase deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in adulthood
symptoms induced by strenuous exercise


HPO:

32
glycogen storage disease xiii:
Inheritance autosomal recessive inheritance
Onset and clinical course adult onset


Classifications:



External Ids:

OMIM 57 612932
Orphanet 59 ORPHA99849
UMLS via Orphanet 74 C2752027
ICD10 via Orphanet 34 E74.0
MedGen 42 C2752027
MeSH 44 D006008
KEGG 37 H01953
SNOMED-CT via HPO 69 258211005 68962001 267044007
UMLS 73 C2752027

Summaries for Glycogen Storage Disease Xiii

UniProtKB/Swiss-Prot : 75 Glycogen storage disease 13: A metabolic disorder that results in exercise-induced myalgias, generalized muscle weakness and fatigability. It is characterized by increased serum creatine kinase and decreased enolase 3 activity. Dramatically reduced protein levels with focal sarcoplasmic accumulation of glycogen-beta particles are detected on ultrastructural analysis.

MalaCards based summary : Glycogen Storage Disease Xiii, is also known as glycogen storage disease type 13, and has symptoms including myalgia An important gene associated with Glycogen Storage Disease Xiii is ENO3 (Enolase 3), and among its related pathways/superpathways is Glycolysis / Gluconeogenesis. Related phenotypes are elevated serum creatine phosphokinase and myalgia

NIH Rare Diseases : 53 Glycogen storage disease type 13 (GSD13), also known as β-enolase deficiency, is an inherited disease of the muscles.  The muscles of an affected individual are not able to produce enough energy to function properly, causing muscle weakness and pain.  GSD13 is caused by changes (mutations) in the ENO3 gene and is inherited in an autosomal recessive pattern.

Description from OMIM: 612932

Symptoms & Phenotypes for Glycogen Storage Disease Xiii

Symptoms via clinical synopsis from OMIM:

57
Muscle Soft Tissue:
exercise intolerance
myalgias
muscle biopsy shows glycogen storage

Laboratory Abnormalities:
increased serum creatine kinase
decreased eno3 activity


Clinical features from OMIM:

612932

Human phenotypes related to Glycogen Storage Disease Xiii:

32
# Description HPO Frequency HPO Source Accession
1 elevated serum creatine phosphokinase 32 HP:0003236
2 myalgia 32 HP:0003326
3 exercise intolerance 32 HP:0003546
4 increased muscle glycogen content 32 HP:0009051

UMLS symptoms related to Glycogen Storage Disease Xiii:


myalgia

Drugs & Therapeutics for Glycogen Storage Disease Xiii

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

Genetic Tests for Glycogen Storage Disease Xiii

Genetic tests related to Glycogen Storage Disease Xiii:

# Genetic test Affiliating Genes
1 Glycogen Storage Disease Type 13 29 ENO3

Anatomical Context for Glycogen Storage Disease Xiii

Publications for Glycogen Storage Disease Xiii

Articles related to Glycogen Storage Disease Xiii:

# Title Authors Year
1
Effects of the G376E and G157D mutations on the stability of yeast enolase--a model for human muscle enolase deficiency. ( 18070103 )
2008

Variations for Glycogen Storage Disease Xiii

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

75
# Symbol AA change Variation ID SNP ID
1 ENO3 p.Gly156Asp VAR_020620 rs121918403
2 ENO3 p.Gly374Glu VAR_020621 rs121918404

ClinVar genetic disease variations for Glycogen Storage Disease Xiii:

6
(show all 48)
# Gene Variation Type Significance SNP ID Assembly Location
1 ENO3 NM_001976.4(ENO3): c.467G> A (p.Gly156Asp) single nucleotide variant Pathogenic rs121918403 GRCh37 Chromosome 17, 4858392: 4858392
2 ENO3 NM_001976.4(ENO3): c.467G> A (p.Gly156Asp) single nucleotide variant Pathogenic rs121918403 GRCh38 Chromosome 17, 4955097: 4955097
3 ENO3 NM_001976.4(ENO3): c.1121G> A (p.Gly374Glu) single nucleotide variant Pathogenic rs121918404 GRCh37 Chromosome 17, 4859921: 4859921
4 ENO3 NM_001976.4(ENO3): c.1121G> A (p.Gly374Glu) single nucleotide variant Pathogenic rs121918404 GRCh38 Chromosome 17, 4956626: 4956626
5 ENO3 NM_053013.3(ENO3): c.-88G> A single nucleotide variant Likely benign rs73343373 GRCh38 Chromosome 17, 4951097: 4951097
6 ENO3 NM_053013.3(ENO3): c.-88G> A single nucleotide variant Likely benign rs73343373 GRCh37 Chromosome 17, 4854392: 4854392
7 ENO3 NM_053013.3(ENO3): c.417G> A (p.Gly139=) single nucleotide variant Conflicting interpretations of pathogenicity rs142390642 GRCh38 Chromosome 17, 4953818: 4953818
8 ENO3 NM_053013.3(ENO3): c.417G> A (p.Gly139=) single nucleotide variant Conflicting interpretations of pathogenicity rs142390642 GRCh37 Chromosome 17, 4857113: 4857113
9 ENO3 NM_053013.3(ENO3): c.789G> A (p.Ser263=) single nucleotide variant Conflicting interpretations of pathogenicity rs75748087 GRCh38 Chromosome 17, 4955528: 4955528
10 ENO3 NM_053013.3(ENO3): c.789G> A (p.Ser263=) single nucleotide variant Conflicting interpretations of pathogenicity rs75748087 GRCh37 Chromosome 17, 4858823: 4858823
11 ENO3 NM_053013.3(ENO3): c.994G> A (p.Val332Ile) single nucleotide variant Benign/Likely benign rs61735456 GRCh38 Chromosome 17, 4956070: 4956070
12 ENO3 NM_053013.3(ENO3): c.994G> A (p.Val332Ile) single nucleotide variant Benign/Likely benign rs61735456 GRCh37 Chromosome 17, 4859365: 4859365
13 ENO3 NM_053013.3(ENO3): c.-3+3C> T single nucleotide variant Benign rs366577 GRCh38 Chromosome 17, 4951185: 4951185
14 ENO3 NM_053013.3(ENO3): c.-3+3C> T single nucleotide variant Benign rs366577 GRCh37 Chromosome 17, 4854480: 4854480
15 ENO3 NM_053013.3(ENO3): c.226G> C (p.Ala76Pro) single nucleotide variant Benign/Likely benign rs143945974 GRCh38 Chromosome 17, 4953095: 4953095
16 ENO3 NM_053013.3(ENO3): c.226G> C (p.Ala76Pro) single nucleotide variant Benign/Likely benign rs143945974 GRCh37 Chromosome 17, 4856390: 4856390
17 ENO3 NM_053013.3(ENO3): c.254T> C (p.Val85Ala) single nucleotide variant Benign rs238239 GRCh38 Chromosome 17, 4953285: 4953285
18 ENO3 NM_053013.3(ENO3): c.254T> C (p.Val85Ala) single nucleotide variant Benign rs238239 GRCh37 Chromosome 17, 4856580: 4856580
19 ENO3 NM_053013.3(ENO3): c.363G> A (p.Ala121=) single nucleotide variant Uncertain significance rs201872558 GRCh38 Chromosome 17, 4953764: 4953764
20 ENO3 NM_053013.3(ENO3): c.363G> A (p.Ala121=) single nucleotide variant Uncertain significance rs201872558 GRCh37 Chromosome 17, 4857059: 4857059
21 ENO3 NM_053013.3(ENO3): c.554G> T (p.Gly185Val) single nucleotide variant Uncertain significance rs200324278 GRCh38 Chromosome 17, 4955184: 4955184
22 ENO3 NM_053013.3(ENO3): c.554G> T (p.Gly185Val) single nucleotide variant Uncertain significance rs200324278 GRCh37 Chromosome 17, 4858479: 4858479
23 ENO3 NM_053013.3(ENO3): c.785A> G (p.Lys262Arg) single nucleotide variant Uncertain significance rs886053166 GRCh38 Chromosome 17, 4955524: 4955524
24 ENO3 NM_053013.3(ENO3): c.785A> G (p.Lys262Arg) single nucleotide variant Uncertain significance rs886053166 GRCh37 Chromosome 17, 4858819: 4858819
25 ENO3 NM_053013.3(ENO3): c.789G> C (p.Ser263=) single nucleotide variant Likely benign rs75748087 GRCh38 Chromosome 17, 4955528: 4955528
26 ENO3 NM_053013.3(ENO3): c.789G> C (p.Ser263=) single nucleotide variant Likely benign rs75748087 GRCh37 Chromosome 17, 4858823: 4858823
27 ENO3 NM_053013.3(ENO3): c.993C> T (p.Ala331=) single nucleotide variant Benign/Likely benign rs2230257 GRCh38 Chromosome 17, 4956069: 4956069
28 ENO3 NM_053013.3(ENO3): c.993C> T (p.Ala331=) single nucleotide variant Benign/Likely benign rs2230257 GRCh37 Chromosome 17, 4859364: 4859364
29 ENO3 NM_053013.3(ENO3): c.1208G> A (p.Arg403His) single nucleotide variant Uncertain significance rs561474067 GRCh38 Chromosome 17, 4956862: 4956862
30 ENO3 NM_053013.3(ENO3): c.1208G> A (p.Arg403His) single nucleotide variant Uncertain significance rs561474067 GRCh37 Chromosome 17, 4860157: 4860157
31 ENO3 NM_053013.3(ENO3): c.1235+3A> G single nucleotide variant Benign/Likely benign rs73973669 GRCh38 Chromosome 17, 4956892: 4956892
32 ENO3 NM_053013.3(ENO3): c.1235+3A> G single nucleotide variant Benign/Likely benign rs73973669 GRCh37 Chromosome 17, 4860187: 4860187
33 ENO3 NM_053013.3(ENO3): c.86-3delC deletion Likely benign rs886053165 GRCh38 Chromosome 17, 4952792: 4952792
34 ENO3 NM_053013.3(ENO3): c.86-3delC deletion Likely benign rs886053165 GRCh37 Chromosome 17, 4856087: 4856087
35 ENO3 NM_053013.3(ENO3): c.452A> G (p.Asn151Ser) single nucleotide variant Uncertain significance rs560867570 GRCh38 Chromosome 17, 4955082: 4955082
36 ENO3 NM_053013.3(ENO3): c.452A> G (p.Asn151Ser) single nucleotide variant Uncertain significance rs560867570 GRCh37 Chromosome 17, 4858377: 4858377
37 ENO3 NM_053013.3(ENO3): c.834delG (p.Glu278Aspfs) deletion Uncertain significance rs779920188 GRCh38 Chromosome 17, 4955573: 4955573
38 ENO3 NM_053013.3(ENO3): c.834delG (p.Glu278Aspfs) deletion Uncertain significance rs779920188 GRCh37 Chromosome 17, 4858868: 4858868
39 ENO3 NM_053013.3(ENO3): c.212A> G (p.Asn71Ser) single nucleotide variant Benign rs238238 GRCh38 Chromosome 17, 4953081: 4953081
40 ENO3 NM_053013.3(ENO3): c.212A> G (p.Asn71Ser) single nucleotide variant Benign rs238238 GRCh37 Chromosome 17, 4856376: 4856376
41 ENO3 NM_053013.3(ENO3): c.788_789insATC (p.Ser263_Pro264insSer) insertion Likely benign rs886053167 GRCh38 Chromosome 17, 4955527: 4955528
42 ENO3 NM_053013.3(ENO3): c.788_789insATC (p.Ser263_Pro264insSer) insertion Likely benign rs886053167 GRCh37 Chromosome 17, 4858822: 4858823
43 ENO3 NM_053013.3(ENO3): c.1047G> A (p.Ser349=) single nucleotide variant Uncertain significance rs527864393 GRCh38 Chromosome 17, 4956123: 4956123
44 ENO3 NM_053013.3(ENO3): c.1047G> A (p.Ser349=) single nucleotide variant Uncertain significance rs527864393 GRCh37 Chromosome 17, 4859418: 4859418
45 ENO3 NM_053013.3(ENO3): c.240+13G> T single nucleotide variant not provided GRCh38 Chromosome 17, 4953122: 4953122
46 ENO3 NM_053013.3(ENO3): c.240+13G> T single nucleotide variant not provided GRCh37 Chromosome 17, 4856417: 4856417
47 ENO3 NM_053013.3(ENO3): c.828C> T (p.Leu276=) single nucleotide variant Benign rs35119507 GRCh38 Chromosome 17, 4955567: 4955567
48 ENO3 NM_053013.3(ENO3): c.828C> T (p.Leu276=) single nucleotide variant Benign rs35119507 GRCh37 Chromosome 17, 4858862: 4858862

Expression for Glycogen Storage Disease Xiii

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

Pathways for Glycogen Storage Disease Xiii

Pathways related to Glycogen Storage Disease Xiii according to KEGG:

37
# Name Kegg Source Accession
1 Glycolysis / Gluconeogenesis hsa00010

GO Terms for Glycogen Storage Disease Xiii

Sources for Glycogen Storage Disease Xiii

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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