Details of Disease

General Information of Disease (ID: DIS77JEI)

• Disease Name: Congenital bile acid synthesis defect 3
• Synonyms: bile acid synthesis defect, congenital, 3; bile acid synthesis defect, congenital, type 3; congenital bile acid synthesis defect caused by mutation in CYP7B1; CBAS3; BASD3; oxysterol 7-alpha-hydroxylase deficiency; CYP7B1 congenital bile acid synthesis defect; congenital bile acid synthesis defect type 3
• Definition: Congenital bile acid synthesis defect type 3 (BAS defect type 3) is a severe anomaly of bile acid synthesis characterized by severe neonatal cholestatic liver disease.
• Disease Hierarchy:
  DISTWFEZ: Congenital bile acid synthesis defect
  DIS77JEI: Congenital bile acid synthesis defect 3
• Disease Identifiers:
  MONDO ID: MONDO_0013439
  MESH ID: C566340
  UMLS CUI: C3151147
  OMIM ID: 613812
  MedGen ID: 462497
  Orphanet ID: 79302

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 3 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
CYP7A1	DEDZRQ1	Limited	Biomarker	[1]
CYP7B1	DE36TMY	moderate	Biomarker	[2]
CYP7B1	DE36TMY	Strong	Autosomal recessive	[3]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CYP7B1	OTIKFYP6	Strong	Autosomal recessive	[3]

References

• [1] Identification of a new inborn error in bile acid synthesis: mutation of the oxysterol 7alpha-hydroxylase gene causes severe neonatal liver disease. J Clin Invest. 1998 Nov 1;102(9):1690-703. doi: 10.1172/JCI2962.
• [2] AKR1D1 and CYP7B1 mutations in patients with inborn errors of bile acid metabolism: Possibly underdiagnosed diseases.Pediatr Neonatol. 2020 Feb;61(1):75-83. doi: 10.1016/j.pedneo.2019.06.009. Epub 2019 Jul 4.
• [3] 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.