It has been recognized that ABCB4 deficiency caused by genetic mutations or variations mainly involves three major hepatobiliary diseases: progressive familial intrahepatic cholestasis type 3 (PFIC3), intrahepatic cholestasis of pregnancy (ICP), and low phospholipid-associated cholelithiasis (LPAC) [59]. This evidence concerns the gene ABCB4 and cholelithiasis.