MCID: SCC006

Succinyl-Coa:3-Ketoacid Coa Transferase Deficiency malady

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

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34MalaCards
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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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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