GSD12
MCID: GLY025
MIFTS: 31

Glycogen Storage Disease Type 12 (GSD12) malady

Genetic diseases, Rare diseases, Neuronal diseases, Muscle diseases, Liver diseases, Cardiovascular diseases, Blood diseases, Endocrine diseases, Nephrological diseases categories
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Summaries for Glycogen Storage Disease Type 12

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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 type 13 and glycogen storage disease xii. 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:47 612932

Aliases & Classifications for Glycogen Storage Disease Type 12

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Sources:
62UMLS, 43NIH Rare Diseases, 20GeneTests, 47OMIM, 49Orphanet, 26ICD10 via Orphanet, 25ICD10
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Classifications:



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 62
glycogen storage disease 12 43 20
aldolase a deficiency 43 20
hereditary nonspherocytic hemolytic anemia due to aldolase a deficiency 62
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
red cell aldolase deficiency 43
aldolase deficiency red cell 43
muscular enolase deficiency 49
muscle enolase deficiency 49
glycogen storage disease 62
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

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17GeneCards, 18GeneDecks
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Symptoms for Glycogen Storage Disease Type 12

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47OMIM
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Symptoms by clinical synopsis from OMIM:

612932

Clinical features from OMIM:

612932

Drugs & Therapeutics for Glycogen Storage Disease Type 12

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42NIH Clinical Center, 6ClinicalTrials
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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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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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Variations for Glycogen Storage Disease Type 12

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Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Glycogen Storage Disease Type 12:

64
id Symbol AA change Variation ID SNP ID
1ENO3p.Gly156AspVAR_020620rs121918403
2ENO3p.Gly374GluVAR_020621

Clinvar genetic disease variations for Glycogen Storage Disease Type 12:

1
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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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Glycogen Storage Disease Type 12

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Pathways for genes affiliated with Glycogen Storage Disease Type 12

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Sources:
50PathCards, 55Reactome, 38NCBI BioSystems Database, 30KEGG, 51PharmGKB, 60Thomson Reuters
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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 degradation38
pentose phosphate pathway (oxidative branch)38
formaldehyde oxidation II (glutathione-dependent)38
9.1ENO3, ALDOA
39.1ALDOA, ENO3
4
Show member pathways
glycolysis38
gluconeogenesis38
Glycolysis and Gluconeogenesis38
9.1ENO3, ALDOA
5
Show member pathways
malate-aspartate shuttle38
glycogen biosynthesis II (from UDP-D-Glucose)38
9.1ENO3, ALDOA

Compounds for genes affiliated with Glycogen Storage Disease Type 12

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45Novoseek, 24HMDB
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Compounds related to Glycogen Storage Disease Type 12 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1creatinine459.1ENO3, ALDOA
2glycogen45 2410.0ENO3, ALDOA
3lactate458.8ENO3, ALDOA

GO Terms for genes affiliated with Glycogen Storage Disease Type 12

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16Gene Ontology
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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

Sources for Glycogen Storage Disease Type 12

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet