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 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:

MalaCards categories:
Global: Rare diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁸ 614055

MedGen ⁴³ C0342735

SNOMED-CT via HPO ⁷⁰ 224958001 271700006

UMLS ⁷⁴ 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 alpha-methylacetoacetic aciduria and maturity-onset diabetes of the young, type 1. 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

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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:

#	Related Disease	Score
1	alpha-methylacetoacetic aciduria	11.1
2	maturity-onset diabetes of the young, type 1	10.1
3	renal cell carcinoma, nonpapillary	10.1
4	neural tube defects	10.1
5	neural tube defects, folate-sensitive	10.1
6	clear cell renal cell carcinoma	10.1

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:

³³

#	Description	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

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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 ³⁰	ACAT2

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Anatomical Context for Acetyl-Coa Acetyltransferase-2 Deficiency

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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 )	Iqbal J...Hussain MM	2014
2	Dietary fat-induced alterations in atherosclerosis are abolished by ACAT2-deficiency in ApoB100 only, LDLr-/- mice. ( 17431188 )	Bell TA...Rudel LL	2007
3	ACAT2 deficiency limits cholesterol absorption in the cholesterol-fed mouse: impact on hepatic cholesterol homeostasis. ( 15486928 )	Repa JJ...Turley SD	2004

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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	PubmedIds
1	ACAT2	Acetyl-CoA Acetyltransferase 2	Protein Coding	158.1	Genetic Tests ³⁰ Unconfirmed association ⁵⁸ 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	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

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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

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⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ 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

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