Details of Disease | DrugMAP

General Information of Disease (ID: DIS6ITXP)

Disease Name	Acetyl-CoA acetyltransferase-2 deficiency
Synonyms	acetoacetyl CoA thiolase, cytosolic; ACETYL-CoA acetyltransferase-2 deficiency; Acat2 deficiency; Acetyl CoA acetyltransferase 2 deficiency; ACAT2D; ACAT2; Acetocoenzyme A acetyltransferase 2; ACAT2 deficiency, Isolated cases; acetyl-CoA acetyltransferase-2 deficiency
Disease Hierarchy	DISYKSRF: Genetic disease DIS6ITXP: Acetyl-CoA acetyltransferase-2 deficiency
Disease Identifiers	MONDO ID MONDO_0013548 MESH ID C536005 UMLS CUI C0342735 OMIM ID 614055 MedGen ID 90995 SNOMED CT ID 237955004

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ACAT2	OTZ092ZJ	Limited	Autosomal recessive	[1]
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References

1	Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.