congenital bile acid synthesis defect 3
MeSH: C566340ORPHA: 79302
Overview
congenital bile acid synthesis defect characterized by intrahepatic cholestasis, malabsorption of fat and fat-soluble vitamins, and increased serum bilirubin that has material basis in homozygous mutation in the CYP7B1 gene on chromosome 8q12
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 3, sourced from HPO and Orphanet clinical annotations.
JaundiceCirrhosisCholestasisHepatic failureBile duct proliferationHepatosplenomegalyFat malabsorptionHyperbilirubinemiaElevated circulating alkaline phosphatase concentrationElevated circulating aspartate aminotransferase concentrationElevated circulating alanine aminotransferase concentrationAbnormality of vitamin metabolism
Classification & Codes
MeSH Code
C566340Orphanet Code
ORPHA:79302congenital bile acid synthesis defect 3
| MeSH | C566340 |
| Orphanet | ORPHA:79302 |
| Treatments | 0 drug(s) |
| Symptoms on record | 12 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO