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 57 29 6 40
Acat2 Deficiency 57 13
Cytosolic Acetoacetyl-Coa Thiolase Deficiency 73
Acetyl Coa Acetyltransferase 2 Deficiency 53
Acetoacetyl Coa Thiolase, Cytosolic 53
Acetocoenzyme a Acetyltransferase 2 53
Acat2d 57
Acat2 53

Characteristics:

OMIM:

57
Inheritance:
isolated cases

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


HPO:

32
acetyl-coa acetyltransferase-2 deficiency:
Inheritance sporadic


Classifications:



External Ids:

OMIM 57 614055
MedGen 42 C0342735
SNOMED-CT via HPO 69 224958001 271700006
UMLS 73 C0342735

Summaries for Acetyl-Coa Acetyltransferase-2 Deficiency

MalaCards based summary : Acetyl-Coa Acetyltransferase-2 Deficiency, also known as acat2 deficiency, is related to renal cell carcinoma, nonpapillary and neural tube defects. 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 renal cell carcinoma, nonpapillary 10.0
2 neural tube defects 10.0
3 neural tube defects, folate-sensitive 10.0
4 clear cell renal cell carcinoma 10.0

Symptoms & Phenotypes for Acetyl-Coa Acetyltransferase-2 Deficiency

Symptoms via clinical synopsis from OMIM:

57
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

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

32
# Description HPO Frequency HPO Source Accession
1 chorea 32 HP:0002072
2 global developmental delay 32 HP:0001263
3 increased serum lactate 32 HP:0002151
4 generalized hypotonia 32 HP:0001290
5 increased serum pyruvate 32 HP:0003542

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

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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