congenital bile acid synthesis defect 1
MeSH: C535442ORPHA: 79301
Overview
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
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 1, sourced from HPO and Orphanet clinical annotations.
NyctalopiaOsteoporosisJaundicePruritusBiliary tract abnormalityCirrhosisFailure to thriveSplenomegalyAbnormal bleedingAbnormality of coagulationMalabsorptionGastrointestinal hemorrhageHepatomegalyElevated circulating hepatic transaminase concentrationNeonatal cholestatic liver diseasePeripheral neuropathy
Classification & Codes
MeSH Code
C535442Orphanet Code
ORPHA:79301congenital bile acid synthesis defect 1
| MeSH | C535442 |
| Orphanet | ORPHA:79301 |
| Treatments | 0 drug(s) |
| Symptoms on record | 16 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO