Expanding etiology of progressive familial intrahepatic cholestasis

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.