MCID: KTT001
MIFTS: 23

Ketothiolase Deficiency malady

Summaries for Ketothiolase Deficiency

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32MalaCards
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MalaCards: Ketothiolase Deficiency, also known as deficiency of acetyl-coa acetyltransferase, is related to beta-ketothiolase deficiency and zellweger syndrome. An important gene associated with Ketothiolase Deficiency is ACAT1 (acetyl-CoA acetyltransferase 1), and among its related pathways are Glyoxylate and dicarboxylate metabolism and Ketone body metabolism. The compounds 2-methyl-3-hydroxybutyryl-coa and 17beta-hydroxysteroid have been mentioned in the context of this disorder.

Aliases & Classifications for Ketothiolase Deficiency

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20GeneTests, 60UMLS
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Aliases & Descriptions:

ketothiolase deficiency 20
deficiency of acetyl-coa acetyltransferase 60


Related Diseases for Ketothiolase Deficiency

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17GeneCards, 18GeneDecks
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Graphical network of diseases related to Ketothiolase Deficiency:



Diseases related to ketothiolase deficiency

Clinical Features for Ketothiolase Deficiency

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Drugs & Therapeutics for Ketothiolase Deficiency

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Ketothiolase Deficiency

Drug clinical trials:

Search ClinicalTrials for Ketothiolase Deficiency

Search NIH Clinical Center for Ketothiolase Deficiency

Search CenterWatch for Ketothiolase Deficiency

Genetic Tests for Ketothiolase Deficiency

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20GeneTests
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Genetic tests related to Ketothiolase Deficiency:

id Genetic test Affiliating Genes
1 Ketothiolase Deficiency20 ACAT1

Anatomical Context for Ketothiolase Deficiency

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Animal Models for Ketothiolase Deficiency or affiliated genes

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Publications for Ketothiolase Deficiency

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Genetic Variations for Ketothiolase Deficiency

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Expression for genes affiliated with Ketothiolase Deficiency

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Ketothiolase Deficiency

Search GEO for disease gene expression data for Ketothiolase Deficiency.

Pathways for genes affiliated with Ketothiolase Deficiency

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29KEGG, 53Reactome, 37NCBI BioSystems Database
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Pathways related to Ketothiolase Deficiency according to GeneCards/GeneDecks:

(show all 17)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8ACAT2, ACAT1
2
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9.8ACAT1, ACAT2
3
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9.8ACAT1, ACAT2
4
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9.8ACAT2, ACAT1
5
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9.8ACAT1, ACAT2
69.8ACAT2, ACAT1
7
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9.8ACAT2, ACAT1
89.8ACAT2, ACAT1
9
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9.5ACAT2, ACAT1, HSD17B10
10
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9.5ACAT2, ACAT1, MAT1A
119.2HSD17B10, MAT1A, ACADSB, ACAT1
12
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9.1ACAA2, ACAA1
13
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8.8ACAA2, ACAA1, HSD17B10
148.7HMGCL, ACAA1, PEX2, PEX6
15
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8.0ACAA1, ACAA2, ACADSB, ACAT1, ACAT2
16
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7.5HMGCL, ACAA1, ACAA2, ACADSB, ACAT1, ACAT2
17
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7.2ACAT2, ACAT1, ACADSB, ACAA2, ACAA1, HMGCL

Compounds for genes affiliated with Ketothiolase Deficiency

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44Novoseek, 24HMDB, 11DrugBank
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Compounds related to Ketothiolase Deficiency according to GeneCards/GeneDecks:

(show all 18)
idCompoundScoreTop Affiliating Genes
12-methyl-3-hydroxybutyryl-coa44 2411.0ACADSB, HSD17B10
217beta-hydroxysteroid449.8ARSH, HSD17B10
3n-acetylgalactosamine 6-sulfate449.8GALNS, ARSH
4isoleucine449.8ACAT1, ACADSB, HSD17B10
5acyl-coa449.6HSD17B10, ACADSB, PEX6
6glucuronic acid449.4ARSH, GALNS
7acetoacetyl coa449.3ACAA2, ACAT1, ACAT2
82-methylbutyryl-coa44 249.9ACAA1, ACAA2, ACADSB
9octanoyl-coa44 249.9ACAA1, ACAA2, ACADSB
10(2E)-Tetradecenoyl-CoA248.9ACAA1, ACAA2, ACADSB
11(2E)-Octenoyl-CoA248.9ACAA1, ACAA2, ACADSB
12(2E)-Dodecenoyl-CoA248.8ACAA1, ACAA2, ACADSB
13(2E)-Decenoyl-CoA248.8ACAA1, ACAA2, ACADSB
14Coenzyme A11 249.8ACAT2, ACAT1, ACAA2, ACAA1
15(2E)-Hexadecenoyl-CoA248.7ACAA1, ACAA2, ACADSB
16stearoyl-coa44 249.7ACAA1, ACAA2, ACADSB
17lipid448.5HSD17B10, ARSH, MAT1A, ACAT2, PEX2
18acetyl-coa44 248.8ACAT2, ACAT1, ACADSB, ACAA2, ACAA1, HMGCL

GO Terms for genes affiliated with Ketothiolase Deficiency

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16Gene Ontology
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Cellular components related to Ketothiolase Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1peroxisomal membraneGO:0057789.8PEX6, PEX2
2mitochondrial matrixGO:0057599.0ACAT1, ACADSB, HMGCL, HSD17B10
3peroxisomeGO:0057778.8PEX6, ACAA1, HMGCL
4mitochondrial inner membraneGO:0057438.5HSD17B10, HMGCL, ACAA2, ACAT1
5mitochondrionGO:0057397.7HSD17B10, HMGCL, ACAA2, ACADSB, ACAT1, ACAT2

Biological processes related to Ketothiolase Deficiency according to GeneCards/GeneDecks:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1cellular ketone body metabolic processGO:0469509.9HMGCL, ACAT1
2ketone body biosynthetic processGO:0469519.8ACAT1, HMGCL
3peroxisome organizationGO:0070319.8PEX2, PEX6
4very long-chain fatty acid metabolic processGO:0000389.7PEX2, ACAA1
5branched-chain amino acid catabolic processGO:0090839.7HSD17B10, ACADSB, ACAT1
6response to starvationGO:0425949.6ACAT1, HMGCL
7cellular nitrogen compound metabolic processGO:0346419.4ACAT1, ACADSB, MAT1A, HSD17B10
8fatty acid beta-oxidationGO:0066359.3PEX2, ACAA1
9cellular lipid metabolic processGO:0442559.2ACAT1, ACAA1, HMGCL
10fatty acid metabolic processGO:0066319.2ACADSB, ACAA2
11small molecule metabolic processGO:0442817.4ACAT1, ACADSB, ACAA1, HMGCL, MAT1A, ARSH

Molecular functions related to Ketothiolase Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1acetyl-CoA C-acyltransferase activityGO:0039889.1ACAA2, ACAA1

Products for genes affiliated with Ketothiolase Deficiency

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Ketothiolase 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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet