Details of Disease | DrugMAP

General Information of Disease (ID: DISFVYGL)

Disease Name	Bile acid CoA:amino acid N-acyltransferase deficiency
Synonyms	bile acid CoA:amino acid N-acyltransferase deficiency; BAAT deficiency
Definition	Any disorder of bile acid aminotransferase in which the cause of the disease is a mutation in the BAAT gene.
Disease Hierarchy	DISOW4W0: Disorder of bile acid aminotransferase DISFVYGL: Bile acid CoA:amino acid N-acyltransferase deficiency

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
BAAT	DERA3OF	Moderate	Autosomal recessive	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
BAAT	OTTMB3JY	Moderate	Autosomal recessive	[1]
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References

1	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.