GSD12
MCID: GLY025
MIFTS: 33

Glycogen Storage Disease Type 12 (GSD12) malady

Genetic diseases, Rare diseases, Metabolic diseases, Neuronal diseases, Muscle diseases, Liver diseases, Cardiovascular diseases, Blood diseases, Nephrological diseases categories

Summaries for Glycogen Storage Disease Type 12

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MalaCards based summary: Glycogen Storage Disease Type 12, also known as aldolase a deficiency, is related to glycogen storage disease type 13 and glycogen storage disease xii, and has symptoms including autosomal recessive inheritance, elevated serum creatine phosphokinase and myalgia. An important gene associated with Glycogen Storage Disease Type 12 is ENO3 (enolase 3 (beta, muscle)), and among its related pathways are MPS VI - Maroteaux-Lamy syndrome and Carbon metabolism. The compounds creatinine and glycogen have been mentioned in the context of this disorder.

Description from OMIM:46 612932

Aliases & Classifications for Glycogen Storage Disease Type 12

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Sources:
42NIH Rare Diseases, 21GeneTests, 46OMIM, 48Orphanet, 61UMLS, 27ICD10 via Orphanet, 26ICD10
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Glycogen Storage Disease Type 12, Aliases & Descriptions:

Name: Glycogen Storage Disease Type 12 42
Aldolase a Deficiency 42 21 61
Glycogen Storage Disease Xiii 46 61
Glycogen Storage Disease 12 42 21
Hereditary Nonspherocytic Hemolytic Anemia Due to Aldolase a Deficiency 61
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 61
 
Aldolase Deficiency Red Cell 42
Red Cell Aldolase Deficiency 42
Muscular Enolase Deficiency 48
Muscle Enolase Deficiency 48
Glycogenosis Type 13 48
Aldoa Deficiency 42
Gsdxiii 48
Gsd12 42


Classifications:



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


External Ids:

OMIM46 612932
ICD10 via Orphanet27 E74.0
ICD1026 E74.0

Related Diseases for Glycogen Storage Disease Type 12

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Symptoms for Glycogen Storage Disease Type 12

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Symptoms by clinical synopsis from OMIM:

612932

Clinical features from OMIM:

612932

HPO human phenotypes related to Glycogen Storage Disease Type 12:

(show all 6)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 elevated serum creatine phosphokinase HP:0003236
3 myalgia HP:0003326
4 exercise intolerance HP:0003546
5 adult onset HP:0003581
6 increased muscle glycogen content HP:0009051

Drugs & Therapeutics for Glycogen Storage Disease Type 12

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Drug clinical trials:

Search ClinicalTrials for Glycogen Storage Disease Type 12

Search NIH Clinical Center for Glycogen Storage Disease Type 12

Genetic Tests for Glycogen Storage Disease Type 12

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Genetic tests related to Glycogen Storage Disease Type 12:

id Genetic test Affiliating Genes
1 Aldolase a Deficiency21 ALDOA
2 Glycogen Storage Disease Xiii21 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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Variations for Glycogen Storage Disease Type 12

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

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

Clinvar genetic disease variations for Glycogen Storage Disease Type 12:

7
id Gene Name Type Significance SNP ID Assembly Location
1ENO3NM_001976.4(ENO3): c.467G> A (p.Gly156Asp)single nucleotide variantPathogenicrs121918403GRCh37Chr 17, 4858392: 4858392
2ENO3NM_001976.4(ENO3): c.1121G> A (p.Gly374Glu)single nucleotide variantPathogenicrs121918404GRCh37Chr 17, 4859921: 4859921

Expression for genes affiliated with Glycogen Storage Disease Type 12

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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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Pathways related to Glycogen Storage Disease Type 12 according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.1ENO3, ALDOA
2
Show member pathways
L-serine degradation37
pentose phosphate pathway (oxidative branch)37
formaldehyde oxidation II (glutathione-dependent)37
9.1ENO3, ALDOA
39.1ALDOA, ENO3
4
Show member pathways
glycolysis37
gluconeogenesis37
Glycolysis and Gluconeogenesis37
9.1ENO3, ALDOA
5
Show member pathways
malate-aspartate shuttle37
glycogen biosynthesis II (from UDP-D-Glucose)37
9.1ENO3, ALDOA

Compounds for genes affiliated with Glycogen Storage Disease Type 12

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Sources:
44Novoseek, 25HMDB
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Compounds related to Glycogen Storage Disease Type 12 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1creatinine449.1ENO3, ALDOA
2glycogen44 2510.0ENO3, ALDOA
3lactate448.8ENO3, ALDOA

GO Terms for genes affiliated with Glycogen Storage Disease Type 12

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Cellular components related to Glycogen Storage Disease Type 12 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular spaceGO:0056159.1ENO3, ALDOA

Biological processes related to Glycogen Storage Disease Type 12 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1gluconeogenesisGO:0060949.2ENO3, ALDOA
2glycolytic processGO:0060969.1ENO3, ALDOA
3small molecule metabolic processGO:0442819.1ENO3, ALDOA
4glucose metabolic processGO:0060069.0ALDOA, ENO3
5carbohydrate metabolic processGO:0059758.8ENO3, ALDOA

Products for genes affiliated with Glycogen Storage Disease Type 12

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Glycogen Storage Disease Type 12

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet