MCID: SCT003
MIFTS: 30

Scot Deficiency malady

Genetic diseases, Rare diseases, Metabolic diseases categories
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Summaries for Scot Deficiency

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NIH Rare Diseases:42 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 based summary: Scot Deficiency, also known as succinyl-coa acetoacetate transferase deficiency, is related to succinyl-coa:3-ketoacid coa transferase deficiency and gastric cancer, and has symptoms including An important gene associated with Scot Deficiency is OXCT1 (3-oxoacid CoA transferase 1). Affiliated tissues include brain and liver.

Description from OMIM:46 245050

Aliases & Classifications for Scot Deficiency

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Sources:
42NIH Rare Diseases, 48Orphanet, 62UMLS, 22GTR, 20GeneTests, 46OMIM, 26ICD10 via Orphanet
See all sources

Scot Deficiency, Aliases & Descriptions:

Name: Scot Deficiency 42 48 62
Succinyl-Coa Acetoacetate Transferase Deficiency 42 22 48 62
Succinyl-Coa:3-Oxoacid Coa Transferase Deficiency 42 20 48
3-Oxoacid Coa Transferase Deficiency 42 62
 
Ketoacidosis Due to Scot Deficiency 42 62
Succinyl-Coa:3-Ketoacid Coa Transferase Deficiency 48
Succinyl Coa:3-Oxoacid Coa Transferase Deficiency 46
Oxct1 Deficiency 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
succinyl-coa acetoacetate transferase deficiency:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


External Ids:

OMIM46 245050
ICD10 via Orphanet26 E71.3

Related Diseases for Scot Deficiency

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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 deficiency10.5
2gastric cancer10.2

Symptoms for Scot Deficiency

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Clinical features from OMIM:

245050

HPO human phenotypes related to Scot Deficiency:

id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 vomiting HP:0002013
3 tachypnea HP:0002789
4 ketonuria HP:0002919
5 episodic ketoacidosis HP:0005974

Drugs & Therapeutics for Scot Deficiency

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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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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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MalaCards organs/tissues related to Scot Deficiency:

32
Brain, Liver

Animal Models for Scot Deficiency or affiliated genes

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Publications for Scot Deficiency

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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 neonatal-onset succinyl-CoA:3-ketoacid CoA transferase (SCOT)-deficient patient with T435N and c.658-666dupAACGTGATT p.N220_I222dup mutations in the OXCT1 gene. (20652411)
2010
4
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
5
Succinyl-CoA:3-ketoacid transferase (SCOT) deficiency in a new patient homozygous for an R217X mutation. (15669687)
2004
6
Growth-inhibitory effects of the ketone body, monoacetoacetin, on human gastric cancer cells with succinyl-CoA: 3-oxoacid CoA-transferase (SCOT) deficiency. (15330163)
2004
7
Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency: two pathogenic mutations, V133E and C456F, in Japanese siblings. (9671268)
1998
8
Succinyl-CoA:3-ketoacid coenzyme A transferase (SCOT): development of an antibody to human SCOT and diagnostic use in hereditary SCOT deficiency. (9128180)
1997
9
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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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:

6
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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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

Sources for Scot Deficiency

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet