autosomal recessive pattern.<unk> -1 is caused by a variety of mutations in ATP8B1, a gene coding for a P-type ATPase protein, FIC-1, that is responsible for phospholipid translocation across membranes. It was previously identified as clinical entities known as Byler's disease and Greenland-Eskimo familial<unk> . Patients with<unk> -1 may also have watery diarrhea, in addition to the clinical features below, due to FIC-1's expression in the intestine. How ATP8B1 mutation leads to<unk>  is not yet well understood.<unk> -2 is caused by a variety of mutations in ABCB11, the gene that codes for the bile salt export pump, or BSEP. Retention of bile salts within hepatocytes, which are the only cell type to express BSEP, causes hepatocellular damage and<unk> .<unk> -3 is caused by a variety of mutations in ABCB4, the gene encoding multidrug resistance protein 3 (MDR3), which codes for a floppase responsible for phosphatidylcholine translocation. The defective phosphatidylcholine translocation leads to a lack of phosphatidylcholine in bile. Phosphatidylcholine normally chaperones bile acids, preventing damage to the biliary epithelium. The free or "unchaperoned" bile acids in bile of patients with MDR3 deficiency cause a cholangitis. Biochemically, this is of note, as<unk> -3 is associated with a markedly elevated GGT. The inheritance pattern of all three forms of<unk>  defined to date is autosomal recessive. Liver biopsies typically show evidence of<unk>  (including bile plugs and bile infarcts), duct hypoplasia, hepatocellular injury, and Zone 3 fibrosis. Giant cell change and other features of hepatocellular injury are more pronounced in<unk> -2 than in<unk> -1 or<unk> -3. End-stage disease in all forms of<unk>  defined to date is characterized by bridging fibrosis with duct proliferation in peri-portal regions.
Progressive familial intrahepatic cholestasis
Vanishing bile duct syndrome
Autoimmune hepatitis
Congenital hepatic fibrosis
Intrahepatic cholestasis of pregnancy
Familial cirrhosis
Alcoholic hepatitis
Neonatal cholestasis