GSD13
MCID: GLY059
MIFTS: 25

Glycogen Storage Disease Xiii (GSD13)

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 Xiii

MalaCards integrated aliases for Glycogen Storage Disease Xiii:

Name: Glycogen Storage Disease Xiii 57 72 13 70
Glycogen Storage Disease Due to Muscle Beta-Enolase Deficiency 58 29 6
Enolase-Beta Deficiency 57 20 72
Enolase 3 Deficiency 57 20 72
Gsd13 57 20 72
Glycogen Storage Disease 13 20 72
Gsd Xiii 57 72
Glycogenosis Due to Muscle Beta-Enolase Deficiency 58
Gsd Due to Muscle Beta-Enolase Deficiency 58
Muscle-Specific Enolase-Beta Deficiency 72
Glycogen Storage Disease Type Xiii 36
Storage Disease, Glycogen, Type 13 39
Glycogen Storage Disease Type 13 20
Muscular Enolase Deficiency 58
Muscle Enolase Deficiency 58
Glycogenosis Type Xiii 72
Glycogenosis Type 13 58
Gsdxiii 58

Characteristics:

Orphanet epidemiological data:

58
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 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in adulthood
symptoms induced by strenuous exercise


HPO:

31
glycogen storage disease xiii:
Inheritance autosomal recessive inheritance
Onset and clinical course adult onset


Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


External Ids:

OMIM® 57 612932
KEGG 36 H01953
MeSH 44 D006008
ICD10 via Orphanet 33 E74.0
UMLS via Orphanet 71 C2752027
Orphanet 58 ORPHA99849
MedGen 41 C2752027
SNOMED-CT via HPO 68 258211005 267044007 68962001
UMLS 70 C2752027

Summaries for Glycogen Storage Disease Xiii

UniProtKB/Swiss-Prot : 72 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 due to muscle beta-enolase deficiency, 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 increased muscle glycogen content and elevated serum creatine kinase

GARD : 20 Glycogen storage disease type 13 (GSD13), also known as ?-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.

KEGG : 36 Glycogen storage disease type XIII (GSD-XIII) is an autosomal recessive disorder of glycogen metabolism. GSD-XIII is caused by mutations in the ENO3 gene, which encodes the muscle beta-enolase. The typical presentation is exercise intolerance and myalgias.

More information from OMIM: 612932

Symptoms & Phenotypes for Glycogen Storage Disease Xiii

Human phenotypes related to Glycogen Storage Disease Xiii:

31
# Description HPO Frequency HPO Source Accession
1 increased muscle glycogen content 31 HP:0009051
2 elevated serum creatine kinase 31 HP:0003236
3 myalgia 31 HP:0003326
4 exercise intolerance 31 HP:0003546

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

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 Due to Muscle Beta-Enolase Deficiency 29 ENO3

Anatomical Context for Glycogen Storage Disease Xiii

Publications for Glycogen Storage Disease Xiii

Articles related to Glycogen Storage Disease Xiii:

# Title Authors PMID Year
1
Beta-enolase deficiency, a new metabolic myopathy of distal glycolysis. 6 57
11506403 2001
2
[Metabolic myopathies]. 61
23897158 2013

Variations for Glycogen Storage Disease Xiii

ClinVar genetic disease variations for Glycogen Storage Disease Xiii:

6 (show top 50) (show all 57)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ENO3 NM_053013.4(ENO3):c.1037_1041dup (p.Gly348fs) Duplication Pathogenic 916552 GRCh37: 17:4859406-4859407
GRCh38: 17:4956111-4956112
2 ENO3 NM_053013.4(ENO3):c.1121G>A (p.Gly374Glu) SNV Pathogenic 16618 rs121918404 GRCh37: 17:4859921-4859921
GRCh38: 17:4956626-4956626
3 ENO3 NM_053013.4(ENO3):c.79G>A (p.Ala27Thr) SNV Uncertain significance 1023135 GRCh37: 17:4855203-4855203
GRCh38: 17:4951908-4951908
4 ENO3 NM_053013.4(ENO3):c.772G>A (p.Asp258Asn) SNV Uncertain significance 1040382 GRCh37: 17:4858806-4858806
GRCh38: 17:4955511-4955511
5 ENO3 NM_053013.4(ENO3):c.11A>C (p.Gln4Pro) SNV Uncertain significance 892245 GRCh37: 17:4855135-4855135
GRCh38: 17:4951840-4951840
6 ENO3 NM_053013.4(ENO3):c.1235+7C>T SNV Uncertain significance 891096 GRCh37: 17:4860191-4860191
GRCh38: 17:4956896-4956896
7 ENO3 NM_053013.4(ENO3):c.1160G>A (p.Gly387Glu) SNV Uncertain significance 891095 GRCh37: 17:4859960-4859960
GRCh38: 17:4956665-4956665
8 ENO3 NM_053013.4(ENO3):c.1097G>A (p.Gly366Glu) SNV Uncertain significance 891094 GRCh37: 17:4859897-4859897
GRCh38: 17:4956602-4956602
9 ENO3 NM_053013.4(ENO3):c.788C>T (p.Ser263Leu) SNV Uncertain significance 890530 GRCh37: 17:4858822-4858822
GRCh38: 17:4955527-4955527
10 ENO3 NM_053013.4(ENO3):c.774T>G (p.Asp258Glu) SNV Uncertain significance 596808 rs763327091 GRCh37: 17:4858808-4858808
GRCh38: 17:4955513-4955513
11 ENO3 NM_053013.4(ENO3):c.555C>T (p.Gly185=) SNV Uncertain significance 888830 GRCh37: 17:4858480-4858480
GRCh38: 17:4955185-4955185
12 ENO3 NM_053013.4(ENO3):c.326A>G (p.Asn109Ser) SNV Uncertain significance 888829 GRCh37: 17:4857022-4857022
GRCh38: 17:4953727-4953727
13 ENO3 NM_053013.4(ENO3):c.363G>A (p.Ala121=) SNV Uncertain significance 324139 rs201872558 GRCh37: 17:4857059-4857059
GRCh38: 17:4953764-4953764
14 ENO3 NM_053013.4(ENO3):c.785A>G (p.Lys262Arg) SNV Uncertain significance 324143 rs886053166 GRCh37: 17:4858819-4858819
GRCh38: 17:4955524-4955524
15 ENO3 NM_053013.4(ENO3):c.1047G>A (p.Ser349=) SNV Uncertain significance 324150 rs527864393 GRCh37: 17:4859418-4859418
GRCh38: 17:4956123-4956123
16 ENO3 NM_053013.4(ENO3):c.834del (p.Glu278fs) Deletion Uncertain significance 324147 rs779920188 GRCh37: 17:4858868-4858868
GRCh38: 17:4955573-4955573
17 ENO3 NM_053013.4(ENO3):c.544A>G (p.Met182Val) SNV Uncertain significance 576008 rs1401088566 GRCh37: 17:4858469-4858469
GRCh38: 17:4955174-4955174
18 ENO3 NM_053013.4(ENO3):c.926_929dup (p.Val311fs) Duplication Uncertain significance 640288 rs751624358 GRCh37: 17:4859296-4859297
GRCh38: 17:4956001-4956002
19 ENO3 NM_053013.4(ENO3):c.698C>T (p.Ala233Val) SNV Uncertain significance 651358 rs142982636 GRCh37: 17:4858732-4858732
GRCh38: 17:4955437-4955437
20 ENO3 NM_053013.4(ENO3):c.296G>A (p.Gly99Glu) SNV Uncertain significance 655560 rs1597699325 GRCh37: 17:4856622-4856622
GRCh38: 17:4953327-4953327
21 ENO3 NM_053013.4(ENO3):c.518T>G (p.Val173Gly) SNV Uncertain significance 661375 rs1597702371 GRCh37: 17:4858443-4858443
GRCh38: 17:4955148-4955148
22 ENO3 NM_053013.4(ENO3):c.1180A>C (p.Lys394Gln) SNV Uncertain significance 843869 GRCh37: 17:4860129-4860129
GRCh38: 17:4956834-4956834
23 ENO3 NM_053013.4(ENO3):c.1198C>T (p.Arg400Cys) SNV Uncertain significance 850528 GRCh37: 17:4860147-4860147
GRCh38: 17:4956852-4956852
24 ENO3 NM_053013.4(ENO3):c.1194dup (p.Cys399fs) Duplication Uncertain significance 574469 rs757440599 GRCh37: 17:4860138-4860139
GRCh38: 17:4956843-4956844
25 ENO3 NM_053013.4(ENO3):c.865+3G>A SNV Uncertain significance 508315 rs147327991 GRCh37: 17:4858902-4858902
GRCh38: 17:4955607-4955607
26 ENO3 NM_053013.4(ENO3):c.493A>G (p.Met165Val) SNV Uncertain significance 855024 GRCh37: 17:4858418-4858418
GRCh38: 17:4955123-4955123
27 ENO3 NM_053013.4(ENO3):c.249C>T (p.Ser83=) SNV Uncertain significance 388654 rs145859308 GRCh37: 17:4856575-4856575
GRCh38: 17:4953280-4953280
28 ENO3 NM_053013.4(ENO3):c.115G>A (p.Ala39Thr) SNV Uncertain significance 931059 GRCh37: 17:4856119-4856119
GRCh38: 17:4952824-4952824
29 ENO3 NM_053013.4(ENO3):c.166C>T (p.Arg56Cys) SNV Uncertain significance 1004098 GRCh37: 17:4856170-4856170
GRCh38: 17:4952875-4952875
30 ENO3 NM_053013.4(ENO3):c.1123G>A (p.Glu375Lys) SNV Uncertain significance 568832 rs770822790 GRCh37: 17:4859923-4859923
GRCh38: 17:4956628-4956628
31 ENO3 NM_053013.4(ENO3):c.412G>A (p.Ala138Thr) SNV Uncertain significance 970640 GRCh37: 17:4857108-4857108
GRCh38: 17:4953813-4953813
32 ENO3 NM_053013.4(ENO3):c.467G>A (p.Gly156Asp) SNV Uncertain significance 16617 rs121918403 GRCh37: 17:4858392-4858392
GRCh38: 17:4955097-4955097
33 ENO3 NM_053013.4(ENO3):c.554G>T (p.Gly185Val) SNV Uncertain significance 324142 rs200324278 GRCh37: 17:4858479-4858479
GRCh38: 17:4955184-4955184
34 ENO3 NM_053013.4(ENO3):c.240G>A (p.Lys80=) SNV Uncertain significance 835452 GRCh37: 17:4856404-4856404
GRCh38: 17:4953109-4953109
35 ENO3 NM_053013.4(ENO3):c.49A>G (p.Asn17Asp) SNV Uncertain significance 858403 GRCh37: 17:4855173-4855173
GRCh38: 17:4951878-4951878
36 ENO3 NM_053013.4(ENO3):c.64G>A (p.Val22Met) SNV Uncertain significance 594898 rs148673221 GRCh37: 17:4855188-4855188
GRCh38: 17:4951893-4951893
37 ENO3 NM_053013.4(ENO3):c.77C>A (p.Thr26Lys) SNV Uncertain significance 808199 rs199677913 GRCh37: 17:4855201-4855201
GRCh38: 17:4951906-4951906
38 ENO3 NM_053013.4(ENO3):c.417G>A (p.Gly139=) SNV Uncertain significance 324140 rs142390642 GRCh37: 17:4857113-4857113
GRCh38: 17:4953818-4953818
39 ENO3 NM_053013.4(ENO3):c.452A>G (p.Asn151Ser) SNV Uncertain significance 324141 rs560867570 GRCh37: 17:4858377-4858377
GRCh38: 17:4955082-4955082
40 ENO3 NM_053013.4(ENO3):c.86-3del Deletion Likely benign 324135 rs151153333 GRCh37: 17:4856085-4856085
GRCh38: 17:4952790-4952790
41 ENO3 NM_053013.4(ENO3):c.1208G>A (p.Arg403His) SNV Benign/Likely benign 324151 rs561474067 GRCh37: 17:4860157-4860157
GRCh38: 17:4956862-4956862
42 ENO3 NM_053013.4(ENO3):c.788_789insATC (p.Ser263dup) Insertion Benign/Likely benign 324144 rs548538086 GRCh37: 17:4858820-4858821
GRCh38: 17:4955525-4955526
43 ENO3 NM_053013.4(ENO3):c.86-10C>T SNV Benign/Likely benign 384380 rs201571802 GRCh37: 17:4856080-4856080
GRCh38: 17:4952785-4952785
44 ENO3 NM_053013.4(ENO3):c.1176+8T>C SNV Benign 389739 rs111926990 GRCh37: 17:4859984-4859984
GRCh38: 17:4956689-4956689
45 ENO3 NM_053013.4(ENO3):c.994G>A (p.Val332Ile) SNV Benign 324149 rs61735456 GRCh37: 17:4859365-4859365
GRCh38: 17:4956070-4956070
46 ENO3 NM_053013.4(ENO3):c.-3+3C>T SNV Benign 324134 rs366577 GRCh37: 17:4854480-4854480
GRCh38: 17:4951185-4951185
47 ENO3 NM_053013.4(ENO3):c.1235+3A>G SNV Benign 324152 rs73973669 GRCh37: 17:4860187-4860187
GRCh38: 17:4956892-4956892
48 ENO3 NM_053013.4(ENO3):c.254T>C (p.Val85Ala) SNV Benign 324138 rs238239 GRCh37: 17:4856580-4856580
GRCh38: 17:4953285-4953285
49 ENO3 NM_053013.4(ENO3):c.212A>G (p.Asn71Ser) SNV Benign 324136 rs238238 GRCh37: 17:4856376-4856376
GRCh38: 17:4953081-4953081
50 ENO3 NM_053013.4(ENO3):c.828C>T (p.Leu276=) SNV Benign 471071 rs35119507 GRCh37: 17:4858862-4858862
GRCh38: 17:4955567-4955567

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

72
# Symbol AA change Variation ID SNP ID
1 ENO3 p.Gly156Asp VAR_020620 rs121918403
2 ENO3 p.Gly374Glu VAR_020621 rs121918404

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:

36
# 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 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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