ACAT2D
MCID: ACT239
MIFTS: 21

Acetyl-Coa Acetyltransferase-2 Deficiency (ACAT2D)

Categories: Rare diseases

Aliases & Classifications for Acetyl-Coa Acetyltransferase-2 Deficiency

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

Name: Acetyl-Coa Acetyltransferase-2 Deficiency 57 29 6 39
Acat2 Deficiency 57 13
Cytosolic Acetoacetyl-Coa Thiolase Deficiency 70
Acetyl Coa Acetyltransferase 2 Deficiency 20
Acetoacetyl Coa Thiolase, Cytosolic 20
Acetocoenzyme a Acetyltransferase 2 20
Acat2d 57
Acat2 20

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
isolated cases

Miscellaneous:
onset between age 4 to 7 months
two unrelated patients have been reported (as of june 2011)


HPO:

31
acetyl-coa acetyltransferase-2 deficiency:
Inheritance sporadic


Classifications:



External Ids:

OMIM® 57 614055
MedGen 41 C0342735
SNOMED-CT via HPO 68 224958001 271700006
UMLS 70 C0342735

Summaries for Acetyl-Coa Acetyltransferase-2 Deficiency

MalaCards based summary : Acetyl-Coa Acetyltransferase-2 Deficiency, also known as acat2 deficiency, is related to schimmelpenning-feuerstein-mims syndrome and alpha-methylacetoacetic aciduria. An important gene associated with Acetyl-Coa Acetyltransferase-2 Deficiency is ACAT2 (Acetyl-CoA Acetyltransferase 2). Affiliated tissues include liver, small intestine and heart, 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:

31
# Description HPO Frequency HPO Source Accession
1 chorea 31 HP:0002072
2 global developmental delay 31 HP:0001263
3 increased serum lactate 31 HP:0002151
4 increased serum pyruvate 31 HP:0003542
5 generalized hypotonia 31 HP:0001290

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Laboratory Abnormalities:
increased serum lactate
increased serum pyruvate
increased urinary ketones
decreased activity of cytosolic acetoacetyl-coa thiolase (acat2, )

Neurologic Central Nervous System:
hypotonia
delayed psychomotor development
ataxic movements
choreic movements

Clinical features from OMIM®:

614055 (Updated 20-May-2021)

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 29 ACAT2

Anatomical Context for Acetyl-Coa Acetyltransferase-2 Deficiency

MalaCards organs/tissues related to Acetyl-Coa Acetyltransferase-2 Deficiency:

40
Liver, Small Intestine, Heart

Publications for Acetyl-Coa Acetyltransferase-2 Deficiency

Articles related to Acetyl-Coa Acetyltransferase-2 Deficiency:

# 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
Intestine-specific MTP and global ACAT2 deficiency lowers acute cholesterol absorption with chylomicrons and HDLs. 61
25030663 2014
4
Multiple mechanisms limit the accumulation of unesterified cholesterol in the small intestine of mice deficient in both ACAT2 and ABCA1. 61
20724527 2010
5
Dietary fat-induced alterations in atherosclerosis are abolished by ACAT2-deficiency in ApoB100 only, LDLr-/- mice. 61
17431188 2007
6
ACAT2 contributes cholesteryl esters to newly secreted VLDL, whereas LCAT adds cholesteryl ester to LDL in mice. 61
15805543 2005
7
ACAT2 deficiency limits cholesterol absorption in the cholesterol-fed mouse: impact on hepatic cholesterol homeostasis. 61
15486928 2004
8
Deficiency of acyl CoA:cholesterol acyltransferase 2 prevents atherosclerosis in apolipoprotein E-deficient mice. 61
12538880 2003
9
Resistance to diet-induced hypercholesterolemia and gallstone formation in ACAT2-deficient mice. 61
11100118 2000

Variations for Acetyl-Coa Acetyltransferase-2 Deficiency

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

6
# 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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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