. Author manuscript; available in PMC: 2013 May 1.

Published in final edited form as: Clin Liver Dis. 2012 Apr 6;16(2):199–229. doi: 10.1016/j.cld.2012.03.012

Table 5.

Hereditary Cholestatic Syndromes

Protein/Gene	Chromosome	Clinical disease state	Lab findings	Characteristic Features

FIC1/ATP8B1	18q21	PFIC1	GGT low Serum bile acids increased	AR; severe pruritus; cholestasis; diarrhea; ductular proliferation absent
FIC1/ATP8B1	18q21	BRIC1	GGT low	Periodic attacks of cholestasis

BSEP/ABCB11	2q24	PFIC2	GGT low Serum bile acids increased	AR; severe pruritus; cholestasis; ductular proliferation absent
		BRIC2	GGT low	Periodic attacks of cholestasis
		ICP	GGT low or high	Cholestasis, pruritus in 3^rd trimester of pregnancy

MDR3/ABCB4	7q21	PFIC3	GGT increased Bile acids normal	AR; moderate pruritus; cholestasis
MDR3/ABCB4	7q21	ICP	GGT increased Bile acids normal	AR; moderate pruritus; cholestasis

MRP2/ABCC2	10q24	Dubin Johnson	Conjugated hyperbilirubinemia	Jaundice

CFTR/ABCC7	7q31	Cystic fibrosis		Associated PSC