ACAT2D
MCID: ACT239
MIFTS: 26

Acetyl-Coa Acetyltransferase-2 Deficiency (ACAT2D)

Categories: Rare diseases
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Aliases & Classifications for Acetyl-Coa Acetyltransferase-2 Deficiency

MalaCards integrated aliases for Acetyl-Coa Acetyltransferase-2 Deficiency:

Name: Acetyl-Coa Acetyltransferase-2 Deficiency 57 28 5 38
Cytosolic Acetoacetyl-Coa Thiolase Deficiency 71
Acetyl Coa Acetyltransferase 2 Deficiency 19
Acetoacetyl Coa Thiolase, Cytosolic 19
Acetocoenzyme a Acetyltransferase 2 19
Acat2 Deficiency 57
Acat2d 57
Acat2 19

Characteristics:


Inheritance:

Isolated cases 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
onset between age 4 to 7 months
two unrelated patients have been reported (as of june 2011)


Classifications:



External Ids:

OMIM® 57 614055
MedGen 40 C0342735
SNOMED-CT via HPO 69 224958001 271700006
UMLS 71 C0342735

Summaries for Acetyl-Coa Acetyltransferase-2 Deficiency

MalaCards based summary: Acetyl-Coa Acetyltransferase-2 Deficiency, also known as cytosolic acetoacetyl-coa thiolase deficiency, is related to alpha-methylacetoacetic aciduria and fetal akinesia deformation sequence 1. An important gene associated with Acetyl-Coa Acetyltransferase-2 Deficiency is ACAT2 (Acetyl-CoA Acetyltransferase 2). Affiliated tissues include liver, small intestine and kidney, and related phenotypes are chorea and global developmental delay

More information from OMIM: 614055

Related Diseases for Acetyl-Coa Acetyltransferase-2 Deficiency

Graphical network of the top 20 diseases related to Acetyl-Coa Acetyltransferase-2 Deficiency:



Diseases related to Acetyl-Coa Acetyltransferase-2 Deficiency

Symptoms & Phenotypes for Acetyl-Coa Acetyltransferase-2 Deficiency

Human phenotypes related to Acetyl-Coa Acetyltransferase-2 Deficiency:

30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 chorea 30 HP:0002072
2 global developmental delay 30 HP:0001263
3 increased serum lactate 30 HP:0002151
4 increased serum pyruvate 30 HP:0003542
5 generalized hypotonia 30 HP:0001290

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Neurologic Central Nervous System:
hypotonia
delayed psychomotor development
ataxic movements
choreic movements

Laboratory Abnormalities:
increased serum lactate
increased serum pyruvate
increased urinary ketones
decreased activity of cytosolic acetoacetyl-coa thiolase (acat2, )

Clinical features from OMIM®:

614055 (Updated 08-Dec-2022)

Drugs & Therapeutics for Acetyl-Coa Acetyltransferase-2 Deficiency

Search Clinical Trials, NIH Clinical Center for Acetyl-Coa Acetyltransferase-2 Deficiency

Genetic Tests for Acetyl-Coa Acetyltransferase-2 Deficiency

Genetic tests related to Acetyl-Coa Acetyltransferase-2 Deficiency:

# Genetic test Affiliating Genes
1 Acetyl-Coa Acetyltransferase-2 Deficiency 28 ACAT2

Anatomical Context for Acetyl-Coa Acetyltransferase-2 Deficiency

Organs/tissues related to Acetyl-Coa Acetyltransferase-2 Deficiency:

MalaCards : Liver, Small Intestine, Kidney, Adipocyte, Myeloid, Lung, Thyroid

Publications for Acetyl-Coa Acetyltransferase-2 Deficiency

Articles related to Acetyl-Coa Acetyltransferase-2 Deficiency:

(show top 50) (show all 272)
# Title Authors PMID Year
1
Biochemical investigations on a patient with a defect in cytosolic acetoacetyl-CoA thiolase, associated with mental retardation. 57
6150136 1984
2
A patient with severe neurologic symptoms and acetoacetyl-CoA thiolase deficiency. 57
20597 1977
3
Hepatic Acat2 overexpression promotes systemic cholesterol metabolism and adipose lipid metabolism in mice. 62
36378328 2022
4
GATA-type transcriptional factor SpGAT1 interacts with SpMIG1 and promotes lipid accumulation in the oleaginous yeast [Formula: see text] zwy-2-3. 62
36209175 2022
5
Dietary astaxanthin-rich extract ameliorates atherosclerosis/retinopathy and restructures gut microbiome in apolipoprotein E-deficient mice fed on a high-fat diet. 62
36134474 2022
6
Could Duodenal Molecular Mechanisms be Involved in the Hypocholesterolemic Effect of Silicon Used as Functional Ingredient in Late-Stage Type 2 Diabetes Mellitus? 62
36213967 2022
7
Great Northern Beans (Phaseolus vulgaris L.) Lower Cholesterol in Hamsters Fed a High-Saturated-Fat Diet. 62
35511604 2022
8
Krill Oil Inhibits Cholesterol Synthesis and Stimulated Cholesterol Excretion in Hypercholesterolemic Rats. 62
36286433 2022
9
Role of sortilin 1 (SORT1) on fatty acid-mediated cholesterol metabolism in primary calf hepatocytes. 62
35940922 2022
10
Human tau mutations in cerebral organoids induce a progressive dyshomeostasis of cholesterol. 62
35985329 2022
11
Pan-cancer analysis reveals the oncogenic role of 3-hydroxy-3-methylglutaryl-CoA synthase 1. 62
34549901 2022
12
Soat2 ties cholesterol metabolism to β-oxidation and glucose tolerance in male mice. 62
34982494 2022
13
ACAT2 as a novel therapeutic target to treat fatty liver disease. 62
35143097 2022
14
Phenotype-genotype correlation in aldosterone-producing adenomas characterized by intracellular cholesterol metabolism. 62
35533918 2022
15
Inhibiting thyroid activation in aged human explants prevents mechanical induced detrimental signalling by mitigating metabolic processes. 62
35383365 2022
16
Correlation of cholesteryl ester metabolism to pathogenesis, progression and disparities in colorectal Cancer. 62
35172832 2022
17
Identification of four novel QTL linked to the metabolic syndrome in the Berlin Fat Mouse. 62
34689180 2022
18
DNA methylation in childhood dental caries and hypomineralization. 62
34875274 2022
19
ACAT2 Is a Novel Negative Regulator of Pig Intramuscular Preadipocytes Differentiation. 62
35204738 2022
20
A Distinct Glucose Metabolism Signature of Lung Adenocarcinoma With Prognostic Value. 62
35615380 2022
21
HOXA10 Regulates the Synthesis of Cholesterol in Endometrial Stromal Cells. 62
35546998 2022
22
Targeting of the Lipid Metabolism Impairs Resistance to BRAF Kinase Inhibitor in Melanoma. 62
35912092 2022
23
Identification of immune cell infiltration and diagnostic biomarkers in unstable atherosclerotic plaques by integrated bioinformatics analysis and machine learning. 62
36211422 2022
24
Multi-omics analysis the differences of VOCs terpenoid synthesis pathway in maintaining obligate mutualism between Ficus hirta Vahl and its pollinators. 62
36457527 2022
25
Molecular structures of human ACAT2 disclose mechanism for selective inhibition. 62
34520735 2021
26
Rebaudioside A Enhances LDL Cholesterol Uptake in HepG2 Cells via Suppression of HMGCR Expression. 62
34981026 2021
27
Placental polar lipid composition is associated with placental gene expression and neonatal body composition. 62
34029703 2021
28
Glycosaminoglycan from Ostrea rivularis attenuates hyperlipidemia and regulates gut microbiota in high-cholesterol diet-fed zebrafish. 62
34532028 2021
29
Genome-wide association study and functional analyses for clinical and subclinical ketosis in Holstein cattle. 62
34099305 2021
30
Circ_RPL23A acts as a miR-1233 sponge to suppress the progression of clear cell renal cell carcinoma by promoting ACAT2. 62
34036483 2021
31
The effect of Tauroursodeoxycholic acid (TUDCA) and gut microbiota on murine gallbladder stone formation. 62
33217585 2021
32
A defective interleukin-17 receptor A1 causes weight loss and intestinal metabolism-related gene downregulation in Japanese medaka, Oryzias latipes. 62
34103614 2021
33
Differentially expressed proteins obtained by label-free quantitative proteomic analysis reveal affected biological processes and functions in Western diet-induced steatohepatitis. 62
33729641 2021
34
Aramchol downregulates stearoyl CoA-desaturase 1 in hepatic stellate cells to attenuate cellular fibrogenesis. 62
34151243 2021
35
Effects of Three-Month Administration of High-Saturated Fat Diet and High-Polyunsaturated Fat Diets with Different Linoleic Acid (LA, C18:2n-6) to α-Linolenic Acid (ALA, C18:3n-3) Ratio on the Mouse Liver Proteome. 62
34063343 2021
36
Lycopene supplementation does not change productive performance but lowers egg yolk cholesterol and gene expression of some cholesterol-related proteins in laying hens. 62
33085516 2021
37
A polygenic methylation prediction model associated with response to chemotherapy in epithelial ovarian cancer. 62
33738340 2021
38
Maternal Vitamin and Mineral Supplementation and Rate of Maternal Weight Gain Affects Placental Expression of Energy Metabolism and Transport-Related Genes. 62
33803164 2021
39
Species and tissue specific analysis based on quantitative proteomics from allotetraploid and the parents. 62
33309926 2021
40
Functional food mixtures: Inhibition of lipid peroxidation, HMGCoA reductase, and ACAT2 in hypercholesterolemia-induced rats. 62
33598171 2021
41
Acetylation Profiles in the Metabolic Process of Glioma-Associated Seizures. 62
34664012 2021
42
Comprehensive Analysis of the Expression Profiles of Hepatic lncRNAs in the Mouse Model of Alcoholic Liver Disease. 62
34393788 2021
43
Impaired cholesterol metabolism in the mouse model of cystic fibrosis. A preliminary study. 62
33412572 2021
44
Complex Involvement of the Extracellular Matrix, Immune Effect, and Lipid Metabolism in the Development of Idiopathic Pulmonary Fibrosis. 62
35174208 2021
45
Anti-Aβ Antibody Aducanumab Regulates the Proteome of Senile Plaques and Closely Surrounding Tissue in a Transgenic Mouse Model of Alzheimer's Disease. 62
33252074 2021
46
Transcriptomic Analysis of Short/Branched-Chain Acyl-Coenzyme a Dehydrogenase Knocked Out bMECs Revealed Its Regulatory Effect on Lipid Metabolism. 62
34557544 2021
47
A New Survival Model Based on Cholesterol Biosynthesis-Related Genes for Prognostic Prediction in Clear Cell Renal Cell Carcinoma. 62
34513998 2021
48
Erratum: ACAT2 Promotes Cell Proliferation and Associates with Malignant Progression in Colorectal Cancer [Corrigendum]. 62
34511933 2021
49
Multi-Omics Analysis to Examine Gene Expression and Metabolites From Multisite Adipose-Derived Mesenchymal Stem Cells. 62
33679891 2021
50
Impact of the acidic environment on gene expression and functional parameters of tumors in vitro and in vivo. 62
33407762 2021

Variations for Acetyl-Coa Acetyltransferase-2 Deficiency

ClinVar genetic disease variations for Acetyl-Coa Acetyltransferase-2 Deficiency:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ACAT2 NM_005891.3(ACAT2):c.526G>A (p.Glu176Lys) SNV Uncertain Significance
548471 rs371307389 GRCh37: 6:160196237-160196237
GRCh38: 6:159775205-159775205

Expression for Acetyl-Coa Acetyltransferase-2 Deficiency

Search GEO for disease gene expression data for Acetyl-Coa Acetyltransferase-2 Deficiency.

Pathways for Acetyl-Coa Acetyltransferase-2 Deficiency

GO Terms for Acetyl-Coa Acetyltransferase-2 Deficiency

Sources for Acetyl-Coa Acetyltransferase-2 Deficiency

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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