MCID: SCC006

Succinyl-Coa:3-Ketoacid Coa Transferase Deficiency malady

Summaries for Succinyl-Coa:3-Ketoacid Coa Transferase Deficiency

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22Genetics Home Reference, 34MalaCards
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Genetics Home Reference:22 Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency is an inherited disorder that impairs the body's ability to break down ketones, which are molecules produced in the liver during the breakdown of fats.

MalaCards: Succinyl-Coa:3-Ketoacid Coa Transferase Deficiency, also known as succinyl-coa:3-oxoacid coa transferase deficiency, is related to scot deficiency.

Aliases & Classifications for Succinyl-Coa:3-Ketoacid Coa Transferase Deficiency

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22Genetics Home Reference
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Aliases & Descriptions:

succinyl-coa:3-ketoacid coa transferase deficiency 22
succinyl-coa:3-oxoacid coa transferase deficiency 22
succinyl-coa:acetoacetate transferase deficiency 22
succinyl-coa 3-oxoacid transferase deficiency 22
3-oxoacid coa transferase deficiency 22
ketoacidosis due to scot deficiency 22
scot deficiency 22


Related Diseases for Succinyl-Coa:3-Ketoacid Coa Transferase Deficiency

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18GeneCards, 19GeneDecks
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Diseases related to Succinyl-Coa:3-Ketoacid Coa Transferase Deficiency via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1scot deficiency10.6

Symptoms for Succinyl-Coa:3-Ketoacid Coa Transferase Deficiency

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Drugs & Therapeutics for Succinyl-Coa:3-Ketoacid Coa Transferase Deficiency

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Succinyl-Coa:3-Ketoacid Coa Transferase Deficiency

Drug clinical trials:

Search ClinicalTrials for Succinyl-Coa:3-Ketoacid Coa Transferase Deficiency

Search NIH Clinical Center for Succinyl-Coa:3-Ketoacid Coa Transferase Deficiency

Search CenterWatch for Succinyl-Coa:3-Ketoacid Coa Transferase Deficiency

Genetic Tests for Succinyl-Coa:3-Ketoacid Coa Transferase Deficiency

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Anatomical Context for Succinyl-Coa:3-Ketoacid Coa Transferase Deficiency

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Animal Models for Succinyl-Coa:3-Ketoacid Coa Transferase Deficiency or affiliated genes

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Publications for Succinyl-Coa:3-Ketoacid Coa Transferase Deficiency

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53PubMed
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Articles related to Succinyl-Coa:3-Ketoacid Coa Transferase Deficiency:

idTitleAuthorsYear
1
Succinyl-CoA:3-ketoacid CoA-transferase deficiency. (9521962)
1998
2
A new Japanese case of succinyl-CoA: 3-ketoacid CoA-transferase deficiency. (7474899)
1995
3
Succinyl-CoA: 3-ketoacid CoA-transferase deficiency. A cause for ketoacidosis in infancy. (4258782)
1972

Variations for Succinyl-Coa:3-Ketoacid Coa Transferase Deficiency

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Succinyl-Coa:3-Ketoacid Coa Transferase Deficiency:

1
id Gene Name Type Significance SNP ID Assembly Location
1OXCT1NM_000436.3(OXCT1): c.848C> G (p.Ser283Ter)single nucleotide variantPathogenicrs121909299GRCh37Chr 5, 41805776: 41805776
2OXCT1NM_000436.3(OXCT1): c.1367G> T (p.Cys456Phe)single nucleotide variantPathogenicrs121909300GRCh37Chr 5, 41749681: 41749681
3OXCT1NM_000436.3(OXCT1): c.971G> A (p.Gly324Glu)single nucleotide variantPathogenicrs121909301GRCh37Chr 5, 41803250: 41803250
4OXCT1NM_000436.3(OXCT1): c.656G> A (p.Gly219Glu)single nucleotide variantPathogenicrs121909302GRCh37Chr 5, 41842792: 41842792
5OXCT1NM_000436.3(OXCT1): c.661G> A (p.Val221Met)single nucleotide variantPathogenicrs121909303GRCh37Chr 5, 41842787: 41842787

Expression for genes affiliated with Succinyl-Coa:3-Ketoacid Coa Transferase Deficiency

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16Gene Expression Omnibus DataSets
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Search GEO for disease gene expression data for Succinyl-Coa:3-Ketoacid Coa Transferase Deficiency.

Pathways for genes affiliated with Succinyl-Coa:3-Ketoacid Coa Transferase Deficiency

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Compounds for genes affiliated with Succinyl-Coa:3-Ketoacid Coa Transferase Deficiency

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GO Terms for genes affiliated with Succinyl-Coa:3-Ketoacid Coa Transferase Deficiency

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Products for genes affiliated with Succinyl-Coa:3-Ketoacid Coa Transferase Deficiency

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Succinyl-Coa:3-Ketoacid Coa Transferase Deficiency

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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