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

Summaries for Glycogen Storage Disease Type 12

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48OMIM, 34MalaCards
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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:48 612932

Aliases & Classifications for Glycogen Storage Disease Type 12

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Sources:
63UMLS, 44NIH Rare Diseases, 21GeneTests, 48OMIM, 50Orphanet, 27ICD10 via Orphanet, 26ICD10
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Classifications:



Characteristics (Orphanet epidemiological data):

50
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 44
glycogen storage disease xiii 48 63
glycogen storage disease 12 44 21
aldolase a deficiency 44 21
hereditary nonspherocytic hemolytic anemia due to aldolase a deficiency 63
glycogen storage disease due to muscle beta-enolase deficiency 50
glycogenosis due to muscle beta-enolase deficiency 50
gsd due to muscle beta-enolase deficiency 50
red cell aldolase deficiency 44
aldolase deficiency red cell 44
muscular enolase deficiency 50
muscle enolase deficiency 50
glycogen storage disease 63
glycogenosis type 13 50
aldoa deficiency 44
gsdxiii 50
gsd12 44


External Ids:

OMIM48 612932
ICD10 via Orphanet27 E74.0
ICD1026 E74.0

Related Diseases for Glycogen Storage Disease Type 12

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Sources:
18GeneCards, 19GeneDecks
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Symptoms for Glycogen Storage Disease Type 12

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48OMIM
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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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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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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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21GeneTests
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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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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Glycogen Storage Disease Type 12:

65
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, 16Gene 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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Sources:
51PathCards, 56Reactome, 39NCBI BioSystems Database, 31KEGG, 52PharmGKB, 61Thomson 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 degradation39
pentose phosphate pathway (oxidative branch)39
formaldehyde oxidation II (glutathione-dependent)39
9.1ENO3, ALDOA
39.1ALDOA, ENO3
4
Show member pathways
glycolysis39
gluconeogenesis39
Glycolysis and Gluconeogenesis39
9.1ENO3, ALDOA
5
Show member pathways
malate-aspartate shuttle39
glycogen biosynthesis II (from UDP-D-Glucose)39
9.1ENO3, ALDOA

Compounds for genes affiliated with Glycogen Storage Disease Type 12

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46Novoseek, 25HMDB
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Compounds related to Glycogen Storage Disease Type 12 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1creatinine469.1ENO3, ALDOA
2glycogen46 2510.0ENO3, ALDOA
3lactate468.8ENO3, ALDOA

GO Terms for genes affiliated with Glycogen Storage Disease Type 12

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17Gene 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
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet