MCID: THL009
MIFTS: 24

Thiolase Deficiency malady

Summaries for Thiolase Deficiency

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Sources:
63Wikipedia, 32MalaCards
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Wikipedia:63 Beta-ketothiolase deficiency is a rare, autosomal recessive metabolic disorder in which the body cannot... more...

MalaCards: Thiolase Deficiency is related to beta-ketothiolase deficiency and medium-chain 3-ketoacyl-coa thiolase deficiency. An important gene associated with Thiolase Deficiency is ACAT1 (acetyl-CoA acetyltransferase 1), and among its related pathways are Glyoxylate and dicarboxylate metabolism and Ketone body metabolism. The compounds benzoyl-coa and acetoacetyl coa have been mentioned in the context of this disorder. Related mouse phenotype liver/biliary system.

Aliases & Classifications for Thiolase Deficiency

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42NIH Rare Diseases
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Aliases & Descriptions:

thiolase deficiency 42


Related Diseases for Thiolase Deficiency

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



Diseases related to thiolase deficiency

Clinical Features for Thiolase Deficiency

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Drugs & Therapeutics for Thiolase Deficiency

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

Search CenterWatch for Thiolase Deficiency

Drug clinical trials:

Search ClinicalTrials for Thiolase Deficiency

Search NIH Clinical Center for Thiolase Deficiency

Search CenterWatch for Thiolase Deficiency

Genetic Tests for Thiolase Deficiency

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Anatomical Context for Thiolase Deficiency

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Animal Models for Thiolase Deficiency or affiliated genes

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Sources:
36MGI
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MGI Mouse Phenotypes related to Thiolase Deficiency:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.1HADHA, HADHB, AMACR, HSD17B4

Publications for Thiolase Deficiency

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Genetic Variations for Thiolase Deficiency

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Expression for genes affiliated with Thiolase Deficiency

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

Search GEO for disease gene expression data for Thiolase Deficiency.

Pathways for genes affiliated with Thiolase Deficiency

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

(show all 22)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.7ACAT2, ACAT1
2
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9.7ACAT2, ACAT1
39.7ACAT2, ACAT1
4
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9.3HSD17B4, AMACR
5
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9.3HSD17B4, ACAA1
6
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9.2ACAT2, ACAT1, HADHB
7
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9.2ACAT2, ACAT1, HADHB
8
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9.2ACAT2, ACAT1, HADHB
9
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9.2HADHB, ACAT1, ACAT2
109.2HADHB, HADHA
11
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9.2HADHA, HADHB
12
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9.2HADHA, HADHB
13
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8.9ACAT2, ACAT1, HADHA
148.9HADHA, ACAT1, ACAT2
15
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8.8ACAT1, HADHA, HADHB
168.8ACAA1, AMACR, HSD17B4
17
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8.8ACAA1, AMACR, HSD17B4
18
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8.7HADHB, HADHA, ACAA1
19
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8.1HADHA, HADHB, AMACR, HSD17B4
20
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8.1ACAA1, HADHA, HADHB, HSD17B4
21
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7.9ACAT2, ACAT1, ACAA1, HADHA, HADHB
22
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7.9HADHB, HADHA, ACAA1, ACAT1, ACAT2

Compounds for genes affiliated with Thiolase Deficiency

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Sources:
44Novoseek, 24HMDB, 28IUPHAR, 11DrugBank
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Compounds related to Thiolase Deficiency according to GeneCards/GeneDecks:

(show all 34)
idCompoundScoreTop Affiliating Genes
1benzoyl-coa44 2410.9ACAA1, HADHB
2acetoacetyl coa449.6HADHB, ACAT1, ACAT2
33-ketopalmitoyl-coa449.6HADHB, HADHA
4i-bop44 2810.6HADHA, HADHB
5phytanic acid449.5ACAA1, AMACR
63-oxoacyl-coa449.5HADHA, ACAA1
7(S)-Hydroxydecanoyl-CoA249.4HSD17B4, HADHA
8(S)-Hydroxyhexanoyl-CoA249.4HADHA, HSD17B4
9(S)-Hydroxyoctanoyl-CoA249.4HADHA, HSD17B4
10(S)-3-Hydroxytetradecanoyl-CoA249.4HSD17B4, HADHA
11(S)-3-Hydroxydodecanoyl-CoA249.4HSD17B4, HADHA
122-methyl-3-hydroxybutyryl-coa44 2410.4HSD17B4, HADHA
13u4661928 4410.3HADHA, HADHB
14cholic acid44 28 11 2412.3AMACR, HSD17B4
15(S)-3-Hydroxyhexadecanoyl-CoA249.2HADHA, HSD17B4
16thromboxane a244 2410.2HADHA, HADHB
17Coenzyme A11 2410.1ACAT2, ACAT1, ACAA1, HADHB
183-methylcrotonyl-coa44 2410.1HADHB, HADHA, ACAA1
192-methylbutyryl-coa44 2410.0ACAA1, HADHA, HADHB
20octanoyl-coa44 2410.0HADHB, HADHA, ACAA1
21(3S)-3-Hydroxyadipyl-CoA249.0HSD17B4, HADHB, HADHA
22(2E)-Tetradecenoyl-CoA249.0HADHB, HADHA, ACAA1
23(2E)-Octenoyl-CoA249.0HADHB, HADHA, ACAA1
24(2E)-Dodecenoyl-CoA249.0HADHB, HADHA, ACAA1
25(2E)-Decenoyl-CoA248.9HADHB, HADHA, ACAA1
26sterol448.9HSD17B4, AMACR, HADHB
27(2E)-Hexadecenoyl-CoA248.9HADHB, HADHA, ACAA1
28thromboxane44 249.9HADHA, HADHB
29stearoyl-coa44 249.9HADHB, HADHA, ACAA1
30citrate448.9AMACR, HADHB, HADHA
31acyl-coa448.4HSD17B4, AMACR, HADHB, HADHA
32fatty acid448.3HSD17B4, AMACR, HADHB, HADHA
33acetyl-coa44 249.3ACAT2, ACAT1, ACAA1, HADHA, HADHB
34lipid448.2AMACR, HADHB, HADHA, ACAT2

GO Terms for genes affiliated with Thiolase Deficiency

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

idNameGO IDScoreTop Affiliating Genes
1mitochondrial fatty acid beta-oxidation multienzyme complexGO:0165079.2HADHB, HADHA
2mitochondrial nucleoidGO:0426458.9HADHA, HADHB
3peroxisomal matrixGO:0057828.9ACAA1, AMACR, HSD17B4
4mitochondrial inner membraneGO:0057438.8ACAT1, HADHA, HADHB
5peroxisomeGO:0057778.7ACAA1, AMACR, HSD17B4
6mitochondrionGO:0057397.4ACAT2, HSD17B4, AMACR, HADHB, HADHA, ACAT1

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

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1alpha-linolenic acid metabolic processGO:0361099.4HSD17B4, ACAA1
2unsaturated fatty acid metabolic processGO:0335599.3HSD17B4, ACAA1
3cardiolipin acyl-chain remodelingGO:0359659.3HADHA, HADHB
4very long-chain fatty acid metabolic processGO:0000389.2ACAA1, HSD17B4
5glycerophospholipid biosynthetic processGO:0464749.2HADHA, HADHB
6bile acid biosynthetic processGO:0066999.0AMACR, HSD17B4
7fatty acid beta-oxidation using acyl-CoA oxidaseGO:0335409.0ACAA1, AMACR, HSD17B4
8bile acid metabolic processGO:0082069.0HSD17B4, AMACR, ACAA1
9fatty acid beta-oxidationGO:0066358.3HSD17B4, HADHB, HADHA, ACAA1
10cellular lipid metabolic processGO:0442557.4ACAT1, ACAA1, HADHA, HADHB, AMACR, HSD17B4
11small molecule metabolic processGO:0442817.3HSD17B4, AMACR, HADHB, HADHA, ACAA1, ACAT1

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1acetyl-CoA C-acyltransferase activityGO:0039889.5ACAA1, HADHB
2long-chain-3-hydroxyacyl-CoA dehydrogenase activityGO:0165099.3HADHB, HADHA
3acetyl-CoA C-acetyltransferase activityGO:0039859.3HADHA, ACAT2
4NAD bindingGO:0512879.2HADHA, HADHB
5enoyl-CoA hydratase activityGO:0043009.1HADHB, HADHA
6fatty-acyl-CoA bindingGO:0000628.9HADHA, HADHB
7long-chain-enoyl-CoA hydratase activityGO:0165088.8HADHA, HADHB, HSD17B4
83-hydroxyacyl-CoA dehydrogenase activityGO:0038578.7HADHA, HADHB, HSD17B4

Products for genes affiliated with Thiolase Deficiency

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Thiolase 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