ACAT1, acetyl-CoA acetyltransferase 1, 38

N. diseases: 176; N. variants: 30
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1536500
Disease: Deficiency of acetyl-CoA acetyltransferase
Deficiency of acetyl-CoA acetyltransferase 		0.800 GeneticVariation disease BEFREE Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency. 31268215 2019
CUI: C1536500
Disease: Deficiency of acetyl-CoA acetyltransferase
Deficiency of acetyl-CoA acetyltransferase 		0.800 GeneticVariation disease CLINVAR Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency. 31268215 2019
CUI: C1536500
Disease: Deficiency of acetyl-CoA acetyltransferase
Deficiency of acetyl-CoA acetyltransferase 		0.800 CausalMutation disease CLINVAR Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency. 31268215 2019
CUI: C1536500
Disease: Deficiency of acetyl-CoA acetyltransferase
Deficiency of acetyl-CoA acetyltransferase 		0.800 GeneticVariation disease BEFREE Beta-ketothiolase deficiency (BKTD) is an autosomal recessive disease caused by a defect of mitochondrial acetoacetyl-CoA thiolase. 31156707 2019
CUI: C1536500
Disease: Deficiency of acetyl-CoA acetyltransferase
Deficiency of acetyl-CoA acetyltransferase 		0.800 CausalMutation disease CLINVAR Beta-Ketothiolase Deficiency Presenting with Metabolic Stroke After a Normal Newborn Screen in Two Individuals. 28726122 2018
CUI: C1536500
Disease: Deficiency of acetyl-CoA acetyltransferase
Deficiency of acetyl-CoA acetyltransferase 		0.800 Biomarker disease BEFREE Mitochondrial acetoacetyl-CoA thiolase (T2) deficiency affects ketone body and isoleucine catabolism. 28255778 2017
CUI: C1536500
Disease: Deficiency of acetyl-CoA acetyltransferase
Deficiency of acetyl-CoA acetyltransferase 		0.800 CausalMutation disease CLINVAR Characterization and outcome of 41 patients with beta-ketothiolase deficiency: 10 years' experience of a medical center in northern Vietnam. 28220263 2017
CUI: C1536500
Disease: Deficiency of acetyl-CoA acetyltransferase
Deficiency of acetyl-CoA acetyltransferase 		0.800 CausalMutation disease CLINVAR Clinical presentation and outcome in a series of 32 patients with 2-methylacetoacetyl-coenzyme A thiolase (MAT) deficiency. 28689740 2017
CUI: C1536500
Disease: Deficiency of acetyl-CoA acetyltransferase
Deficiency of acetyl-CoA acetyltransferase 		0.800 GeneticVariation disease BEFREE Beta-ketothiolase deficiency, also known as mitochondrial acetoacetyl-CoA thiolase (T2) deficiency, is an autosomal recessive disease caused by mutations in the acetyl‑CoA acetyltransferase 1 (ACAT1) gene. 27748876 2016
CUI: C1536500
Disease: Deficiency of acetyl-CoA acetyltransferase
Deficiency of acetyl-CoA acetyltransferase 		0.800 CausalMutation disease CLINVAR Exon 10 skipping in ACAT1 caused by a novel c.949G>A mutation located at an exonic splice enhancer site. 27748876 2016
CUI: C1536500
Disease: Deficiency of acetyl-CoA acetyltransferase
Deficiency of acetyl-CoA acetyltransferase 		0.800 GeneticVariation disease CLINVAR [Analysis of clinical phenotype and ACAT1 gene mutation in a family affected with beta-ketothiolase deficiency]. 27264805 2016
CUI: C1536500
Disease: Deficiency of acetyl-CoA acetyltransferase
Deficiency of acetyl-CoA acetyltransferase 		0.800 Biomarker disease BEFREE Development of MLPA for human ACAT1 gene and identification of a heterozygous Alu-mediated deletion of exons 3 and 4 in a patient with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency. 23920042 2014
CUI: C1536500
Disease: Deficiency of acetyl-CoA acetyltransferase
Deficiency of acetyl-CoA acetyltransferase 		0.800 GeneticVariation disease CLINVAR Development and performance of a comprehensive targeted sequencing assay for pan-ethnic screening of carrier status. 24517888 2014
CUI: C1536500
Disease: Deficiency of acetyl-CoA acetyltransferase
Deficiency of acetyl-CoA acetyltransferase 		0.800 Biomarker disease CLINGEN Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics. 24309898 2014
CUI: C1536500
Disease: Deficiency of acetyl-CoA acetyltransferase
Deficiency of acetyl-CoA acetyltransferase 		0.800 Biomarker disease BEFREE Beta-ketothiolase deficiency, or mitochondrial acetoacetyl-CoA thiolase (T2) deficiency, is a rare autosomal recessive disorder affecting isoleucine catabolism and ketone body metabolism. 23958592 2014
CUI: C1536500
Disease: Deficiency of acetyl-CoA acetyltransferase
Deficiency of acetyl-CoA acetyltransferase 		0.800 GermlineCausalMutation disease ORPHANET She was not suspected of having T2 deficiency during her childhood, but she was diagnosed as T2 deficient at the age of 25 years by enzyme assay using fibroblasts. 23430882 2012
CUI: C1536500
Disease: Deficiency of acetyl-CoA acetyltransferase
Deficiency of acetyl-CoA acetyltransferase 		0.800 CausalMutation disease CLINVAR Siblings with mitochondrial acetoacetyl-CoA thiolase deficiency not identified by newborn screening. 21669895 2011
CUI: C1536500
Disease: Deficiency of acetyl-CoA acetyltransferase
Deficiency of acetyl-CoA acetyltransferase 		0.800 GeneticVariation disease CLINVAR Siblings with mitochondrial acetoacetyl-CoA thiolase deficiency not identified by newborn screening. 21669895 2011
CUI: C1536500
Disease: Deficiency of acetyl-CoA acetyltransferase
Deficiency of acetyl-CoA acetyltransferase 		0.800 GeneticVariation disease BEFREE A common mutation, R208X, identified in Vietnamese patients with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency. 20156697 2010
CUI: C1536500
Disease: Deficiency of acetyl-CoA acetyltransferase
Deficiency of acetyl-CoA acetyltransferase 		0.800 CausalMutation disease CLINVAR Different clinical presentation in siblings with mitochondrial acetoacetyl-CoA thiolase deficiency and identification of two novel mutations. 20046049 2010
CUI: C1536500
Disease: Deficiency of acetyl-CoA acetyltransferase
Deficiency of acetyl-CoA acetyltransferase 		0.800 CausalMutation disease CLINVAR A common mutation, R208X, identified in Vietnamese patients with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency. 20156697 2010
CUI: C1536500
Disease: Deficiency of acetyl-CoA acetyltransferase
Deficiency of acetyl-CoA acetyltransferase 		0.800 GeneticVariation disease BEFREE We identified and characterized a point mutation (c.1124A>G) in an Australian patient (GK43) with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency. 18511318 2008
CUI: C1536500
Disease: Deficiency of acetyl-CoA acetyltransferase
Deficiency of acetyl-CoA acetyltransferase 		0.800 Biomarker disease CLINGEN Mitochondrial acetoacetyl-CoA thiolase (T2) deficiency is an inborn error of metabolism that affects isoleucine catabolism and ketone body metabolism. 17236799 2007
CUI: C1536500
Disease: Deficiency of acetyl-CoA acetyltransferase
Deficiency of acetyl-CoA acetyltransferase 		0.800 GeneticVariation disease CLINVAR Mitochondrial acetoacetyl-CoA thiolase (T2) deficiency is an inborn error of metabolism that affects isoleucine catabolism and ketone body metabolism. 17236799 2007
CUI: C1536500
Disease: Deficiency of acetyl-CoA acetyltransferase
Deficiency of acetyl-CoA acetyltransferase 		0.800 CausalMutation disease CLINVAR Mitochondrial acetoacetyl-CoA thiolase (T2) deficiency is an inborn error of metabolism that affects isoleucine catabolism and ketone body metabolism. 17236799 2007