Details of Disease | DrugMAP

General Information of Disease (ID: DISNE17X)

Disease Name	Congenital bile acid synthesis defect 5
Synonyms	bile acid synthesis defect, congenital, 5; congenital bile acid synthesis defect caused by mutation in ABCD3; ABCD3 congenital bile acid synthesis defect; CBAS5; congenital bile acid synthesis defect type 5; bile acid synthesis defect, congenital, type 5; congenital bile acid synthesis defect 5
Definition	Any congenital bile acid synthesis defect in which the cause of the disease is a mutation in the ABCD3 gene.
Disease Hierarchy	DISVK0F8: Disorder of peroxisomal transporter DISTWFEZ: Congenital bile acid synthesis defect DISNE17X: Congenital bile acid synthesis defect 5
Disease Identifiers	MONDO ID MONDO_0014564 UMLS CUI C4225390 OMIM ID 616278 MedGen ID 904751

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
ABCD3	DTGLZO4	Limited	Autosomal recessive	[1]
ABCD3	DTGLZO4	Limited	Biomarker	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ABCD3	OT2PITLX	Limited	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.
2	A novel bile acid biosynthesis defect due to a deficiency of peroxisomal ABCD3.Hum Mol Genet. 2015 Jan 15;24(2):361-70. doi: 10.1093/hmg/ddu448. Epub 2014 Aug 28.