congenital bile acid synthesis defect 2
MeSH: C535443ORPHA: 79303
Overview
Congenital bile acid synthesis defect type 2 (BAS defect type 2) is an anomaly of bile acid synthesis (see this term) characterized by severe and rapidly progressive cholestatic liver disease, and malabsorption of fat and fat-soluble vitamins
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with congenital bile acid synthesis defect 2, sourced from HPO and Orphanet clinical annotations.
HyperbilirubinemiaAbnormal circulating enzyme concentration or activityGiant cell hepatitisJaundiceCholestasisHepatic steatosisHepatic failureFailure to thriveExtramedullary hematopoiesisHepatomegalySteatorrheaFat malabsorptionConjugated hyperbilirubinemiaElevated circulating hepatic transaminase concentrationElevated circulating alkaline phosphatase concentrationAbnormality of the coagulation cascadeProlonged partial thromboplastin timeProlonged neonatal jaundiceProlonged prothrombin timePostnatal growth retardationIncreased circulating lactate dehydrogenase concentrationAbnormal serum bile acid concentrationDark urineDecreased circulating vitamin E concentrationRenal cystRicketsAbnormal intrahepatic bile duct morphology
Classification & Codes
MeSH Code
C535443Orphanet Code
ORPHA:79303congenital bile acid synthesis defect 2
| MeSH | C535443 |
| Orphanet | ORPHA:79303 |
| Treatments | 0 drug(s) |
| Symptoms on record | 27 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO