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

Sources

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:

MalaCards categories:
Global: Rare diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 614055

MedGen ⁴² C0342735

SNOMED-CT via HPO ⁶⁹ 224958001 271700006

UMLS ⁷³ C0342735

Sources

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

Sources

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	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

Sources

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 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

Sources

Drugs & Therapeutics for Acetyl-Coa Acetyltransferase-2 Deficiency

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

Sources

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

Sources

Anatomical Context for Acetyl-Coa Acetyltransferase-2 Deficiency

Sources

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 )	Repa JJ...Turley SD	2004

Sources

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	150	Genetic Tests ²⁹ Genetic association ⁵⁷ Unconfirmed association ⁵⁷

Sources

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

Sources

Expression for Acetyl-Coa Acetyltransferase-2 Deficiency

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

Sources

Pathways for Acetyl-Coa Acetyltransferase-2 Deficiency

Sources

GO Terms for Acetyl-Coa Acetyltransferase-2 Deficiency

Sources

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 ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

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 NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia

Acetyl-Coa Acetyltransferase-2 Deficiency (ACAT2)

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:

Symptoms & Phenotypes for Acetyl-Coa Acetyltransferase-2 Deficiency

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

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

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