GSD12
MCID: GLY025
MIFTS: 29

Glycogen Storage Disease Type 12 (GSD12) malady

Metabolic diseases, Neuronal diseases, Muscle diseases categories

Summaries for Glycogen Storage Disease Type 12

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46OMIM, 32MalaCards
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MalaCards: Glycogen Storage Disease Type 12, also known as glycogen storage disease xiii, is related to glycogen storage disease and glycogen storage disease ii. An important gene associated with Glycogen Storage Disease Type 12 is ENO3 (enolase 3 (beta, muscle)).

Description from OMIM:46 612932

Aliases & Classifications for Glycogen Storage Disease Type 12

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42NIH Rare Diseases, 20GeneTests, 46OMIM, 48Orphanet, 60UMLS, 26ICD10 via Orphanet, 25ICD10
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Metabolic diseases
Anatomical: Neuronal diseases, Muscle diseases


Characteristics (Orphanet epidemiological data):

48
glycogen storage disease due to muscle beta-enolase deficiency:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Adulthood; Age of death: Normal


Aliases & Descriptions:

glycogen storage disease type 12 42
glycogen storage disease xiii 46 60
glycogen storage disease 12 42 20
aldolase a deficiency 42 20
hereditary nonspherocytic hemolytic anemia due to aldolase a deficiency 60
glycogen storage disease due to muscle beta-enolase deficiency 48
glycogenosis due to muscle beta-enolase deficiency 48
gsd due to muscle beta-enolase deficiency 48
aldolase deficiency red cell 42
muscular enolase deficiency 48
muscle enolase deficiency 48
glycogen storage disease 60
glycogenosis type 13 48
aldoa deficiency 42
gsdxiii 48
gsd12 42


External Ids:

OMIM46 612932
ICD10 via Orphanet26 E74.0
ICD1025 E74.0

Related Diseases for Glycogen Storage Disease Type 12

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17GeneCards, 18GeneDecks
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Diseases in the Glycogen Storage Disease Ii family:

Glycogen Storage Disease Viii Glycogen Storage Disease Iv
Glycogen Storage Disease Vi Glycogen Storage Disease V
Glycogen Storage Disease I Glycogen Storage Disease Iii
Glycogen Storage Disease Ix Glycogen Storage Disease Xv
Glycogen Storage Disease Vii Glycogen Storage Disease
glycogen storage disease type 12 Glycogen Storage Disease Type 13
Glycogen Storage Disease Type 1a Glycogen Storage Disease Type 1b
Glycogen Storage Disease Type 0 Glycogen Storage Disease Type 14
Glycogen Storage Disease Iiia Glycogen Storage Disease Iiib
Glycogen Storage Disease Ic Glycogen Storage Disease Ixc
Glycogen Storage Disease Xii

Diseases related to Glycogen Storage Disease Type 12 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 137)
idRelated DiseaseScoreTop Affiliating Genes
1glycogen storage disease11.5
2glycogen storage disease ii11.1
3glycogen storage disease iv11.1
4glycogen storage disease i11.1
5glycogen storage disease iii11.1
6glycogen storage disease v10.9
7liver disease10.9
8glycogen storage disease vi10.9
9hepatitis10.9
10glycogen storage disease type 1a10.8
11glycogen storage disease type 010.8
12adenoma10.8
13lysosomal storage disease10.7
14glycogen storage disease vii10.7
15phosphorylase kinase deficiency10.7
16danon disease10.6
17glycogen storage disease xv10.6
18hepatitis a10.6
19hepatocellular carcinoma10.6
20neutropenia10.6
21fanconi bickel syndrome10.6
22glycogen storage disease ix10.6
23hypoglycemia10.6
24glycogen storage disease type 0, muscle10.6
25glycogen storage disease, type ixa110.6
26muscle glycogenosis10.6
27glycogen storage disease due to phosphorylase kinase deficiency10.6
28glycogen storage disease viii10.6
29phosphoglycerate mutase deficiency10.6
30glycogen storage disease iiia10.6
31phosphorylase kinase deficiency of liver and muscle, autosomal recessive10.5
32chromosomal disease10.5
33kidney disease10.5
34neuromuscular disease10.5
35glycogen storage disease type 1b10.5
36lethal congenital glycogen storage disease of the heart10.5
37glycogen storage disease due to acid maltase deficiency, adult onset10.5
38hypertrophic cardiomyopathy10.5
39atherosclerosis10.5
40lipid storage disease10.5
41juvenile hereditary hemochromatosis10.5
42glycogen storage disease due to acid maltase deficiency, juvenile onset10.5
43glycogen storage disease due to acid maltase deficiency, infantile onset10.5
44nephrolithiasis10.4
45brain disease10.4
46hypertension10.4
47inflammatory bowel disease10.4
48gout10.3
49fanconi syndrome10.3
50diabetes mellitus10.3

Graphical network of the top 20 diseases related to Glycogen Storage Disease Type 12:



Diseases related to glycogen storage disease type 12

Clinical Features for Glycogen Storage Disease Type 12

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46OMIM
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Clinical features from OMIM:

612932

Clinical synopsis from OMIM:

612932

Drugs & Therapeutics for Glycogen Storage Disease Type 12

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Glycogen Storage Disease Type 12

Drug clinical trials:

Search ClinicalTrials for Glycogen Storage Disease Type 12

Search NIH Clinical Center for Glycogen Storage Disease Type 12

Search CenterWatch for Glycogen Storage Disease Type 12

Genetic Tests for Glycogen Storage Disease Type 12

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20GeneTests
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Genetic tests related to Glycogen Storage Disease Type 12:

id Genetic test Affiliating Genes
1 Aldolase a Deficiency20 ALDOA
2 Glycogen Storage Disease Xiii20 ENO3

Anatomical Context for Glycogen Storage Disease Type 12

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Animal Models for Glycogen Storage Disease Type 12 or affiliated genes

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Publications for Glycogen Storage Disease Type 12

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Genetic Variations for Glycogen Storage Disease Type 12

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Glycogen Storage Disease Type 12:

62
id Symbol AA change Variation ID SNP ID
1ENO3p.Gly156AspVAR_020620rs121918403
2ENO3p.Gly374GluVAR_020621

Expression for genes affiliated with Glycogen Storage Disease Type 12

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Glycogen Storage Disease Type 12

Search GEO for disease gene expression data for Glycogen Storage Disease Type 12.

Pathways for genes affiliated with Glycogen Storage Disease Type 12

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Compounds for genes affiliated with Glycogen Storage Disease Type 12

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GO Terms for genes affiliated with Glycogen Storage Disease Type 12

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Products for genes affiliated with Glycogen Storage Disease Type 12

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Glycogen Storage Disease Type 12

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet