MCID: SCT003
MIFTS: 29

Scot Deficiency malady

Genetic diseases, Rare diseases categories
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Summaries for Scot Deficiency

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Sources:
43NIH Rare Diseases, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 Scot deficiency is a metabolic disease that is caused by reduced or missing levels of 3-ketoacid coa transferase. this enzyme is necessary for the body to use ketones. ketones are substances produced when fat cells break down and are an important source of energy, especially when there is a shortage of glucose. scot deficiency is characterized by intermittent ketoacidosis, with the first episode often occurring in newborns or infants (6 to 20 months). in ketoacidosis ketones build-up in the body. symptoms of ketoacidosis may vary but can include trouble breathing, poor feeding, vomiting, lethargy, unconsciousness, and coma. crises need to be addressed immediately. fortunately these crises tend to respond well to iv fluids including glucose and sodium bicarbonate. patients with scot defiency are symptom free between episodes. this deficiency can be caused by mutations in the oxct1 gene. last updated: 9/4/2010

MalaCards: Scot Deficiency, also known as succinyl-coa:3-oxoacid coa transferase deficiency, is related to succinyl-coa:3-ketoacid coa transferase deficiency. An important gene associated with Scot Deficiency is OXCT1 (3-oxoacid CoA transferase 1). Affiliated tissues include brain and liver.

Description from OMIM:47 245050

Aliases & Classifications for Scot Deficiency

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43NIH Rare Diseases, 49Orphanet, 22GTR, 20GeneTests, 47OMIM, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases


Characteristics (Orphanet epidemiological data):

49
succinyl-coa:3-oxoacid coa transferase deficiency:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

scot deficiency 43 49
succinyl-coa:3-oxoacid coa transferase deficiency 43 20 49
succinyl-coa acetoacetate transferase deficiency 43 22 49
succinyl-coa:3-ketoacid coa transferase deficiency 49
succinyl coa:3-oxoacid coa transferase deficiency 47
3-oxoacid coa transferase deficiency 43
ketoacidosis due to scot deficiency 43
oxct1 deficiency 49


External Ids:

OMIM47 245050
ICD10 via Orphanet26 E71.3
SNOMED-CT via Orphanet59 238004006

Related Diseases for Scot Deficiency

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17GeneCards, 18GeneDecks
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Diseases related to Scot Deficiency via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1succinyl-coa:3-ketoacid coa transferase deficiency10.3

Symptoms for Scot Deficiency

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47OMIM
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Clinical features from OMIM:

245050

Drugs & Therapeutics for Scot Deficiency

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Scot Deficiency

Search NIH Clinical Center for Scot Deficiency

Genetic Tests for Scot Deficiency

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20GeneTests, 22GTR
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Genetic tests related to Scot Deficiency:

id Genetic test Affiliating Genes
1 Succinyl-Coa:3-Oxoacid Coa Transferase Deficiency20 OXCT1
2 Succinyl-Coa Acetoacetate Transferase Deficiency22

Anatomical Context for Scot Deficiency

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33MalaCards
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MalaCards organs/tissues related to Scot Deficiency:

33
Brain, Liver

Animal Models for Scot Deficiency or affiliated genes

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Publications for Scot Deficiency

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52PubMed
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Articles related to Scot Deficiency:

idTitleAuthorsYear
1
A structural mapping of mutations causing succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency. (23420214)
2013
2
Clinical and molecular characterization of five patients with succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency. (21296660)
2011
3
A 6-bp deletion at the splice donor site of the first intron resulted in aberrant splicing using a cryptic splice site within exon 1 in a patient with succinyl-CoA: 3-Ketoacid CoA transferase (SCOT) deficiency. (16765626)
2006
4
Succinyl-CoA:3-ketoacid transferase (SCOT) deficiency in a new patient homozygous for an R217X mutation. (15669687)
2004
5
Growth-inhibitory effects of the ketone body, monoacetoacetin, on human gastric cancer cells with succinyl-CoA: 3-oxoacid CoA-transferase (SCOT) deficiency. (15330163)
2004
6
Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency: two pathogenic mutations, V133E and C456F, in Japanese siblings. (9671268)
1998
7
Succinyl-CoA:3-ketoacid coenzyme A transferase (SCOT): development of an antibody to human SCOT and diagnostic use in hereditary SCOT deficiency. (9128180)
1997
8
Succinyl CoA:3-oxoacid CoA transferase (SCOT): human cDNA cloning, human chromosomal mapping to 5p13, and mutation detection in a SCOT- deficient patient. (8751852)
1996

Variations for Scot Deficiency

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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 Scot Deficiency:

64 (show all 11)
id Symbol AA change Variation ID SNP ID
1OXCT1p.Val133GluVAR_000696
2OXCT1p.Cys456PheVAR_000697
3OXCT1p.Gly219GluVAR_010337
4OXCT1p.Val221MetVAR_010338
5OXCT1p.Gly324GluVAR_010339
6OXCT1p.Ala215ValVAR_065564rs201752548
7OXCT1p.Ser226AsnVAR_065565
8OXCT1p.Leu327ProVAR_065566
9OXCT1p.Val404PheVAR_065567
10OXCT1p.Ser405ProVAR_065568
11OXCT1p.Arg468CysVAR_065569

Clinvar genetic disease variations for Scot Deficiency:

1
id Gene Name Type Significance SNP ID Assembly Location
1OXCT1OXCT1, IVS13DS, G-A, +5single nucleotide variantPathogenic
2OXCT1NM_000436.3(OXCT1): c.848C> G (p.Ser283Ter)single nucleotide variantPathogenicrs121909299GRCh37Chr 5, 41805776: 41805776
3OXCT1NM_000436.3(OXCT1): c.1367G> T (p.Cys456Phe)single nucleotide variantPathogenicrs121909300GRCh37Chr 5, 41749681: 41749681
4OXCT1NM_000436.3(OXCT1): c.173C> T (p.Thr58Met)single nucleotide variantPathogenicrs75134564GRCh37Chr 5, 41862758: 41862758
5OXCT1NM_000436.3(OXCT1): c.971G> A (p.Gly324Glu)single nucleotide variantPathogenicrs121909301GRCh37Chr 5, 41803250: 41803250
6OXCT1NM_000436.3(OXCT1): c.656G> A (p.Gly219Glu)single nucleotide variantPathogenicrs121909302GRCh37Chr 5, 41842792: 41842792
7OXCT1NM_000436.3(OXCT1): c.661G> A (p.Val221Met)single nucleotide variantPathogenicrs121909303GRCh37Chr 5, 41842787: 41842787

Expression for genes affiliated with Scot Deficiency

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Scot Deficiency

Search GEO for disease gene expression data for Scot Deficiency.

Pathways for genes affiliated with Scot Deficiency

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Compounds for genes affiliated with Scot Deficiency

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GO Terms for genes affiliated with Scot Deficiency

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Products for genes affiliated with Scot Deficiency

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Scot Deficiency

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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