MCID: KTT001
MIFTS: 25

Ketothiolase Deficiency malady

Category: Genetic diseases (common)

Aliases & Classifications for Ketothiolase Deficiency

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Aliases & Descriptions for Ketothiolase Deficiency:

Name: Ketothiolase Deficiency 22
Deficiency of Acetyl-Coa Acetyltransferase 65
Methylacetoacetyl-Coa Thiolase Deficiency 22
 
Deficiency of Acetyl-Coa Acyltransferase 65
Alpha-Methylacetoaceticaciduria 22
Beta-Ketothiolase Deficiency 22

Classifications:



External Ids:

UMLS65 C1536500, C0342869

Summaries for Ketothiolase Deficiency

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MalaCards based summary: Ketothiolase Deficiency, also known as deficiency of acetyl-coa acetyltransferase, is related to alpha-methylacetoacetic aciduria and multifocal motor neuropathy. An important gene associated with Ketothiolase Deficiency is ACAT1 (Acetyl-CoA Acetyltransferase 1), and among its related pathways are Fatty acid metabolism and Diseases of metabolism. Affiliated tissues include prostate, thyroid and lung.

Related Diseases for Ketothiolase Deficiency

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Graphical network of the top 20 diseases related to Ketothiolase Deficiency:



Diseases related to ketothiolase deficiency

Symptoms for Ketothiolase Deficiency

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Drugs & Therapeutics for Ketothiolase Deficiency

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Ketothiolase Deficiency

Genetic Tests for Ketothiolase Deficiency

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Genetic tests related to Ketothiolase Deficiency:

id Genetic test Affiliating Genes
1 Ketothiolase Deficiency22 ACAT1

Anatomical Context for Ketothiolase Deficiency

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MalaCards organs/tissues related to Ketothiolase Deficiency:

33
Prostate, Thyroid, Lung

Animal Models for Ketothiolase Deficiency or affiliated genes

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Publications for Ketothiolase Deficiency

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Articles related to Ketothiolase Deficiency:

(show all 26)
idTitleAuthorsYear
1
QT Dynamics During Exercise in Asymptomatic Children with Long QT Syndrome Type 3. (26921063)
2016
2
Oral fluconazole and vulvovaginal candidiasis: prevention is not always better than cure. (24171211)
2013
3
Personality dimensions and type D personality in female patients with ulcerative colitis. (23825986)
2012
4
Simultaneous genotyping of coagulation factor XI type II and type III mutations by multiplex real-time polymerase chain reaction to determine their prevalence in healthy and factor XI-deficient Italians. (18387979)
2008
5
Endoscopic resection of hypothalamic hamartomas for refractory symptomatic epilepsy. (18427070)
2008
6
In vitro reprogramming of fibroblasts into a pluripotent ES-cell-like state. (17554336)
2007
7
Study of the efficacy of fluoxetine and clomipramine in the treatment of premature ejaculation after opioid detoxification. (16449099)
2006
8
Impaired intestinal iron absorption in Crohn's disease correlates with disease activity and markers of inflammation. (17119383)
2006
9
Angiomatoid fibrous histiocytoma with pain in a child. (16519396)
2005
10
Dipeptidyl peptidase inhibits malignant phenotype of prostate cancer cells by blocking basic fibroblast growth factor signaling pathway. (15735018)
2005
11
Mutational comparison of the single-domained APOBEC3C and double-domained APOBEC3F/G anti-retroviral cytidine deaminases provides insight into their DNA target site specificities. (15809227)
2005
12
Epstein-Barr virus LMP1 inhibits the expression of SAP gene and upregulates Th1 cytokines in the pathogenesis of hemophagocytic syndrome. (16002423)
2005
13
Reduction of coactivator expression by antisense oligodeoxynucleotides inhibits ERalpha transcriptional activity and MCF-7 proliferation. (11818499)
2002
14
Angiotensin II and the pathophysiology of cardiovascular remodeling. (11334763)
2001
15
Pattern of defervescence in response to anti-tuberculosis therapy in patients with extrapulmonary tuberculosis and advanced human immunodeficiency virus infection. (10502908)
1999
16
Thrombopoietin. (10495959)
1999
17
Interleukin-6 and tumour necrosis factor alpha synthesized by cholesteatoma cells affect mucociliary function in the eustachian tube. (9879407)
1998
18
Mechanism and structure based inhibitors of phospholipase C enzymes. (8869740)
1996
19
Otitis externa due to Demodex canis. (7863603)
1994
20
Effect of cyclopiazonic acid, an inhibitor of sarcoplasmic reticulum Ca(2+)-ATPase, on the frequency-dependence of the contraction-relaxation cycle of the guinea-pig isolated atrium. (7858841)
1994
21
Differential expression of mutant and normal beta T3 receptor alleles in kindreds with generalized resistance to thyroid hormone. (8486789)
1993
22
New signaling mechanism of angiotensin II in neuroblastoma neuro-2A cells: activation of soluble guanylyl cyclase via nitric oxide synthesis. (7682650)
1993
23
Identification, characterization, and tissue distribution of apolipoprotein D in the rat. (2090718)
1990
24
Treatment of Chlamydia trachomatis endometritis with josamycin. (16312700)
1989
25
Sensitivity in vitro to dimetridazole of treponemes associated with swine dysentery. (433115)
1979
26
Antigens from Thermopolyspora polyspora involved in farmer's lung. (4956669)
1966

Variations for Ketothiolase Deficiency

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Expression for genes affiliated with Ketothiolase Deficiency

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Search GEO for disease gene expression data for Ketothiolase Deficiency.

Pathways for genes affiliated with Ketothiolase Deficiency

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GO Terms for genes affiliated with Ketothiolase Deficiency

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Biological processes related to Ketothiolase Deficiency according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cellular nitrogen compound metabolic processGO:00346419.6ACAT1, MCCC2
2vitamin metabolic processGO:00067669.5MCCC1, MCCC2

Sources for Ketothiolase Deficiency

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet