Details of Disease

General Information of Disease (ID: DIS1LUZT)

• Disease Name: Congenital bile acid synthesis defect 1
• Synonyms: congenital bile acid synthesis defect, type 1; 3-Beta-hydroxy-Delta-5-C27-steroid oxidoreductase deficiency; bile acid synthesis defect, congenital, 1; 3-alpha beta-hydroxy-delta-5-C27-steroid oxidoreductase, deficiency of; congenital bile acid synthesis defect type 1; HSD3B7 congenital bile acid synthesis defect; BASD1; congenital bile acid synthesis defect caused by mutation in HSD3B7; congenital bile acid synthesis defect 1; 3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency type 1; CBAS1; bile acid synthesis defect, congenital, type 1
• Definition: Congenital bile acid synthesis defect type 1 (BAS defect type 1) is the most common anomaly of bile acid synthesis characterized by variable manifestations of progressive cholestatic liver disease, and fat malabsorption.
• Disease Hierarchy:
  DISTWFEZ: Congenital bile acid synthesis defect
  DIS1LUZT: Congenital bile acid synthesis defect 1
• Disease Identifiers:
  MONDO ID: MONDO_0011906
  MESH ID: C535442
  UMLS CUI: C1843116
  OMIM ID: 607765
  MedGen ID: 335883
  Orphanet ID: 79301
  SNOMED CT ID: 238033007

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
HSD3B7	OT2Y9IW4	Definitive	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.