Table 1.
List of genes associated with progressive familial intrahepatic cholestasis and their related phenotypes.
| Year | Gene | Protein | Phenotypes | Hepatobiliary Cancers |
|---|---|---|---|---|
| 1998 | ATP8B1 | ATP8B1 | ICP BRIC PFIC 1 |
Not reported |
| 1998 | ABCB11 | BSEP | ICP DIC LPAC BRIC PFIC 2 |
HCC CCA |
| 1996 | ABCB4 | MDR3 | ICP DIC LPAC PFIC 3 |
HCC CCA Gallbladder cancer |
| 2014 | TJP2 | TJP2 | ICP PFIC 4 |
HCC CCA |
| 2016 | NR1H4 | FXR | ICP PFIC 5 |
Not reported |
| 2017 | MYO5B | MYO5B | BRIC MVID MYO5B-PFIC |
Not reported |
| 2019 | USP53 | USP53 protein | BRIC PFIC 7 |
Not reported |
| 2019 | KIF12 | KIF12 | PFIC 8 | Not reported |
| 2020 | SLC51A | OSTα-OSTβ | PFIC 6 | Not reported |
Abbreviations: BRIC, benign recurrent intrahepatic cholestasis; PFIC, progressive familial intrahepatic cholestasis; ICP, intrahepatic cholestasis of pregnancy; HCC−CCA, hepatocellular carcinoma-cholangiocarcinoma; DIC, drug-induced cholestasis; LPAC, low-phospholipid-associated cholelithiasis.