GSD12
MCID: GLY025
MIFTS: 19

Glycogen Storage Disease Type 12 (GSD12) malady

Metabolic, Neuronal, Muscle categories

Summaries for Glycogen Storage Disease Type 12

Sources:
47OMIM, 33MalaCards
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MalaCards: Glycogen Storage Disease Type 12, also known as glycogen storage disease xiii, is related to glycogen storage disease i and glycogen storage disease v. An important gene associated with Glycogen Storage Disease Type 12 is ENO3 (enolase 3 (beta, muscle)).

Description from OMIM:47 612932

Aliases & Classifications for Glycogen Storage Disease Type 12

Sources:
61UMLS, 43NIH Rare Diseases, 20GeneTests, 47OMIM, 49Orphanet, 26ICD10 via Orphanet, 25ICD10
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Classifications:

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


Characteristics (Orphanet epidemiological data):

49
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 43
glycogen storage disease xiii 47 61
glycogen storage disease 12 43 20
aldolase a deficiency 43 20
hereditary nonspherocytic hemolytic anemia due to aldolase a deficiency 61
glycogen storage disease due to muscle beta-enolase deficiency 49
glycogenosis due to muscle beta-enolase deficiency 49
gsd due to muscle beta-enolase deficiency 49
aldolase deficiency red cell 43
muscular enolase deficiency 49
muscle enolase deficiency 49
glycogen storage disease 61
glycogenosis type 13 49
aldoa deficiency 43
gsdxiii 49
gsd12 43


External Ids:

OMIM47 612932
ICD10 via Orphanet26 E74.0
ICD1025 E74.0

Related Diseases for Glycogen Storage Disease Type 12

Sources:
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 115)
idRelated DiseaseScoreTop Affiliating Genes
1glycogen storage disease i11.3
2glycogen storage disease v11.1
3glycogen storage disease iv11.0
4glycogen storage disease vi11.0
5glycogen storage disease ii11.0
6glycogen storage disease iii11.0
7glycogen storage disease type 1a10.9
8adenoma10.9
9glycogen storage disease iiia10.8
10glycogen storage disease type 010.7
11glycogen storage disease vii10.7
12hepatocellular adenoma10.7
13danon disease10.7
14phosphorylase kinase deficiency10.7
15glycogen storage disease type 1310.7
16glycogen storage disease xv10.7
17fanconi bickel syndrome10.7
18phosphorylase kinase deficiency of liver and muscle, autosomal recessive10.7
19hypoglycemia10.6
20glycogen storage disease type 0, muscle10.6
21muscle glycogenosis10.6
22lip disease10.6
23glycogen storage disease viii10.6
24glycogen storage disease, type ixa110.6
25phosphoglycerate mutase deficiency10.6
26glycogen storage disease type 1b10.5
27lethal congenital glycogen storage disease of the heart10.5
28gout10.5
29crohn's disease10.5
30hypertrophic cardiomyopathy10.5
31atherosclerosis10.5
32glycogen storage disease due to acid maltase deficiency, adult onset10.5
33nephrolithiasis10.4
34brain disease10.4
35juvenile hereditary hemochromatosis10.4
36nutrition disease10.4
37glycogen storage disease due to acid maltase deficiency, juvenile onset10.4
38glycogen storage disease due to acid maltase deficiency, infantile onset10.4
39fanconi syndrome10.4
40dent's disease10.4
41glycogen storage disease type 1410.4
42glycogen storage disease iiib10.4
43glycogen storage disease ic10.4
44glycogen storage disease ixc10.4
45glycogen storage disease xii10.3
46niemann-pick disease10.3
47biliary atresia10.3
48glycogen storage disease ix10.3
49biotin deficiency10.3
50pick's disease10.3

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

Sources:
47OMIM
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Clinical features from OMIM:

612932

Clinical synopsis from OMIM:

612932

Drugs & Therapeutics for Glycogen Storage Disease Type 12

Sources:
5CenterWatch, 42NIH 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

Sources:
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

Animal Models for Glycogen Storage Disease Type 12 or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Glycogen Storage Disease Type 12

Genetic Variations for Glycogen Storage Disease Type 12

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Glycogen Storage Disease Type 12:

63
id Symbol AA change Variation SNP ID
1ENO3p.Gly156AspVAR_020620rs121918403
2ENO3p.Gly374GluVAR_020621

Expression for genes affiliated with Glycogen Storage Disease Type 12

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

Compounds for genes affiliated with Glycogen Storage Disease Type 12

GO Terms for genes affiliated with Glycogen Storage Disease Type 12

Products for genes affiliated with Glycogen Storage Disease Type 12

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Glycogen Storage Disease Type 12

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet