ACAT2
MCID: ACT239
MIFTS: 19

Acetyl-Coa Acetyltransferase-2 Deficiency (ACAT2)

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 58 30 6 41
Acat2 Deficiency 58 13
Cytosolic Acetoacetyl-Coa Thiolase Deficiency 74
Acetyl Coa Acetyltransferase 2 Deficiency 54
Acetoacetyl Coa Thiolase, Cytosolic 54
Acetocoenzyme a Acetyltransferase 2 54
Acat2d 58
Acat2 54

Characteristics:

OMIM:

58
Inheritance:
isolated cases

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


HPO:

33
acetyl-coa acetyltransferase-2 deficiency:
Inheritance sporadic


Classifications:



External Ids:

OMIM 58 614055
MedGen 43 C0342735
SNOMED-CT via HPO 70 224958001 271700006
UMLS 74 C0342735

Summaries for Acetyl-Coa Acetyltransferase-2 Deficiency

MalaCards based summary : Acetyl-Coa Acetyltransferase-2 Deficiency, also known as acat2 deficiency, is related to alpha-methylacetoacetic aciduria and renal cell carcinoma, nonpapillary. An important gene associated with Acetyl-Coa Acetyltransferase-2 Deficiency is ACAT2 (Acetyl-CoA Acetyltransferase 2). Related phenotypes are chorea and global developmental delay

Description from OMIM: 614055

Related Diseases for Acetyl-Coa Acetyltransferase-2 Deficiency

Diseases related to Acetyl-Coa Acetyltransferase-2 Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 alpha-methylacetoacetic aciduria 11.1
2 renal cell carcinoma, nonpapillary 10.1
3 neural tube defects 10.1
4 neural tube defects, folate-sensitive 10.1
5 clear cell renal cell carcinoma 10.1

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:

33
# Description HPO Frequency HPO Source Accession
1 chorea 33 HP:0002072
2 global developmental delay 33 HP:0001263
3 increased serum lactate 33 HP:0002151
4 generalized hypotonia 33 HP:0001290
5 increased serum pyruvate 33 HP:0003542

Symptoms via clinical synopsis from OMIM:

58
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

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 30 ACAT2

Anatomical Context for Acetyl-Coa Acetyltransferase-2 Deficiency

Publications for Acetyl-Coa Acetyltransferase-2 Deficiency

Articles related to Acetyl-Coa Acetyltransferase-2 Deficiency:

# Title Authors Year
1
Intestine-specific MTP and global ACAT2 deficiency lowers acute cholesterol absorption with chylomicrons and HDLs. ( 25030663 )
2014
2
Dietary fat-induced alterations in atherosclerosis are abolished by ACAT2-deficiency in ApoB100 only, LDLr-/- mice. ( 17431188 )
2007
3
ACAT2 deficiency limits cholesterol absorption in the cholesterol-fed mouse: impact on hepatic cholesterol homeostasis. ( 15486928 )
2004

Variations for Acetyl-Coa Acetyltransferase-2 Deficiency

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ACAT2 NM_005891.2(ACAT2): c.526G> A (p.Glu176Lys) single nucleotide variant Uncertain significance rs371307389 GRCh37 Chromosome 6, 160196237: 160196237
2 ACAT2 NM_005891.2(ACAT2): c.526G> A (p.Glu176Lys) single nucleotide variant Uncertain significance rs371307389 GRCh38 Chromosome 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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....