Acetyl-Coa Acetyltransferase-2 Deficiency disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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 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:

MalaCards categories:
Global: Rare diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM® ⁵⁷ 614055

MedGen ⁴¹ C0342735

SNOMED-CT via HPO ⁶⁸ 224958001 271700006

UMLS ⁷⁰ C0342735

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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

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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:

(show all 19)

#	Related Disease	Score
1	schimmelpenning-feuerstein-mims syndrome	10.9
2	alpha-methylacetoacetic aciduria	10.9
3	hypercholesterolemia, familial, 1	10.3
4	non-alcoholic fatty liver disease	10.1
5	gallbladder disease 1	10.0
6	fatty liver disease, nonalcoholic 1	10.0
7	atherosclerosis susceptibility	10.0
8	hypertriglyceridemia, familial	10.0
9	colorectal cancer	9.9
10	maturity-onset diabetes of the young, type 1	9.9
11	renal cell carcinoma, nonpapillary	9.9
12	neural tube defects	9.9
13	maturity-onset diabetes of the young, type 3	9.9
14	maturity-onset diabetes of the young	9.9
15	coronary heart disease 1	9.9
16	familial hyperlipidemia	9.9
17	clear cell renal cell carcinoma	9.9
18	fatty liver disease	9.9
19	47,xyy	9.9

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

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Symptoms & Phenotypes for Acetyl-Coa Acetyltransferase-2 Deficiency

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

³¹

#	Description	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)

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Drugs & Therapeutics for Acetyl-Coa Acetyltransferase-2 Deficiency

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

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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

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Anatomical Context for Acetyl-Coa Acetyltransferase-2 Deficiency

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

⁴⁰

Liver, Small Intestine, Heart

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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	Bennett MJ...Middleton B	6150136	1984
2	A patient with severe neurologic symptoms and acetoacetyl-CoA thiolase deficiency. ⁵⁷	Groot CJ...Hoomes FA	20597	1977
3	Intestine-specific MTP and global ACAT2 deficiency lowers acute cholesterol absorption with chylomicrons and HDLs. ⁶¹	Iqbal J...Hussain MM	25030663	2014
4	Multiple mechanisms limit the accumulation of unesterified cholesterol in the small intestine of mice deficient in both ACAT2 and ABCA1. ⁶¹	Turley SD...Dietschy JM	20724527	2010
5	Dietary fat-induced alterations in atherosclerosis are abolished by ACAT2-deficiency in ApoB100 only, LDLr-/- mice. ⁶¹	Bell TA...Rudel LL	17431188	2007
6	ACAT2 contributes cholesteryl esters to newly secreted VLDL, whereas LCAT adds cholesteryl ester to LDL in mice. ⁶¹	Lee RG...Rudel LL	15805543	2005
7	ACAT2 deficiency limits cholesterol absorption in the cholesterol-fed mouse: impact on hepatic cholesterol homeostasis. ⁶¹	Repa JJ...Turley SD	15486928	2004
8	Deficiency of acyl CoA:cholesterol acyltransferase 2 prevents atherosclerosis in apolipoprotein E-deficient mice. ⁶¹	Willner EL...Farese RV	12538880	2003
9	Resistance to diet-induced hypercholesterolemia and gallstone formation in ACAT2-deficient mice. ⁶¹	Buhman KK...Farese RV	11100118	2000

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Genes for Acetyl-Coa Acetyltransferase-2 Deficiency

Genes related to Acetyl-Coa Acetyltransferase-2 Deficiency (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	ACAT2	Acetyl-CoA Acetyltransferase 2	Protein Coding	157.68	Genetic Tests ²⁹ Unconfirmed association ⁵⁷ GeneCards inferred via : Variants (show sections)

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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

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Expression for Acetyl-Coa Acetyltransferase-2 Deficiency

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

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Pathways for Acetyl-Coa Acetyltransferase-2 Deficiency

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GO Terms for Acetyl-Coa Acetyltransferase-2 Deficiency

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Sources for Acetyl-Coa Acetyltransferase-2 Deficiency

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 20-May-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ Wikipedia

Acetyl-Coa Acetyltransferase-2 Deficiency (ACAT2D)

Aliases & Classifications for Acetyl-Coa Acetyltransferase-2 Deficiency

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

Characteristics:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Acetyl-Coa Acetyltransferase-2 Deficiency

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:

Graphical network of the top 20 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:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Drugs & Therapeutics for Acetyl-Coa Acetyltransferase-2 Deficiency

Genetic Tests for Acetyl-Coa Acetyltransferase-2 Deficiency

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

Anatomical Context for Acetyl-Coa Acetyltransferase-2 Deficiency

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

Publications for Acetyl-Coa Acetyltransferase-2 Deficiency

Articles related to Acetyl-Coa Acetyltransferase-2 Deficiency:

Genes for Acetyl-Coa Acetyltransferase-2 Deficiency

Genes related to Acetyl-Coa Acetyltransferase-2 Deficiency (1 elite genes):

Variations for Acetyl-Coa Acetyltransferase-2 Deficiency

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

Expression 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