Orphanet: Congenital bile acid synthesis defect type 1

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Congenital bile acid synthesis defect type 1

Disease definition

Congenital bile acid synthesis defect type 1 (BAS defect type 1) is the most common anomaly of bile acid synthesis (see this term) characterized by variable manifestations of progressive cholestatic liver disease, and fat malabsorption.


Classification level: Disorder
  • Synonym(s):
    • 3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency
    • BASD1
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: K76.8
  • OMIM: 607765
  • UMLS: C1843116
  • MeSH: C535442
  • GARD: 9813
  • MedDRA: -

Detailed information


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