New tight junction protein 2 variant causing progressive familial intrahepatic cholestasis type 4 in adults: A case report

Table 4 Common known phenotypes of the genes included in the panel including characteristics of progressive familial intrahepatic cholestasis[24,25]

Mutated gene (deficiency)	Disease association (autosomal recessive)	Disease association (autosomal dominant)
ATP8B1(FIC1)	PFIC1(2009) BRIC1	ICP
ABCB11(BSEP)	PFIC2(2009) BRIC2	ICP Drug-induced cholestasis
ABCB4 (MDR3)	PFIC3	ICP LPAC Drug-induced cholestasis
TJP2(TJP2)	PFIC4	ICP
ABCC2(MRP2)	Dubin-Johnson	ICP
ABCG5(ABCG5)	Sitosterolemia	Cholelithiasis
UGT1A1(UGT1A1)	Crigler-Najjar syndrome type 1; Crigler-Najjar syndrome type 2; Gilbert syndrome (promotor regions)
NR1H4(FXR)	Intralobular cholestasis	Posttransplant hepatic steatosis
MYO5B(MYO5B)	Microvillus inclusion disease (MVID); Cholestasis without MVID

ICP: Intrahepatic cholestasis during pregnancy; LPAC: Low phospholipid-associated cholelithiasis; PFIC: Progressive familial intrahepatic cholestasis; BRIC: Benign recurrent intrahepatic cholestasis.