Details of Disease | DrugMAP

General Information of Disease (ID: DIS68TJR)

Disease Name	Congenital bile acid synthesis defect 6
Synonyms	bile acid synthesis defect, congenital, 6; bile acid synthesis defect, congenital, type 6; congenital bile acid synthesis defect caused by mutation in ACOX2; ACOX2 congenital bile acid synthesis defect; congenital bile acid synthesis defect type 6; CBAS6
Definition	Any congenital bile acid synthesis defect in which the cause of the disease is a mutation in the ACOX2 gene.
Disease Hierarchy	DISTWFEZ: Congenital bile acid synthesis defect DIS68TJR: Congenital bile acid synthesis defect 6
Disease Identifiers	MONDO ID MONDO_0015015 UMLS CUI C4310624 OMIM ID 617308 MedGen ID 934591

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
ACOX2	OT3VH359	Moderate	Autosomal recessive	[1]
------------------------------------------------------------------------------------

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.