Table 2.
Adult manifestations of progressive familial intrahepatic cholestasis gene mutations
| Etiology | Genetic defect | Manifestations |
| FIC1 deficiency | ATP8B1 | BRIC1 |
| ICP1 and contraceptive-induced cholestasis | ||
| Cryptogenic cirrhosis | ||
| BSEP deficiency | ABCB11 | BRIC2 |
| ICP2 and contraceptive-induced cholestasis | ||
| DILI | ||
| Cryptogenic cirrhosis | ||
| MDR3 deficiency | ABCB4 | ICP3 and contraceptive-induced cholestasis |
| Drug induced cholestasis | ||
| Low phospholipid-associated cholestasis | ||
| Cholesterol gallstone disease | ||
| Biliary fibrosis or liver cirrhosis without cholestasis | ||
| Cryptogenic cirrhosis | ||
| TJP2 deficiency | TJP2 | Cryptogenic cirrhosis |
| FXR | NR1H4 | ICP |
| Drug induced cholestasis associated with propylthiouracil |
BRIC: Benign recurrent intrahepatic cholestasis; BSEP: Bile salt export pump; ICP: Intrahepatic cholestasis of pregnancy; DILI: Drug induce liver injury.