Progressive familial intrahepatic cholestasis: From childhood to adulthood

Table 1 Genes associated with progressive familial intrahepatic cholestasis and related cholestatic disorders

Gene (HGNC)	Locus	Mechanism	Protein	PFIC type/phenotype	OMIM	Inheritance
ABCB11	2q31.1	Canalicular bile salt transport defects	Bile salt export pump	Cholestasis, benign recurrent intrahepatic 2	605479	AR
				Cholestasis, progressive familial intrahepatic 2	601847	AR
ABCB4	7q21.12	Canalicular phospholipid salt transport defects	Multidrug resistance protein 3	Cholestasis, intrahepatic, of pregnancy 3	614972	AD, AR
				Cholestasis, progressive familial intrahepatic 3	602347	AR
				Gallbladder disease 1	600803	AD, AR
ATP8B1	18q21.31	Membrane lipid homeostasis/canalicular stability	Familial intrahepatic cholestasis protein 1	Cholestasis, benign recurrent intrahepatic	243300	AR
				Cholestasis, intrahepatic, of pregnancy 1	147480	AD
				Cholestasis, progressive familial intrahepatic 1	211600	AR
TJP2	9q21.11	Tight junction/epithelial barrier defects	Tight junction protein 2	Cholestasis, progressive familial intrahepatic 4	615878	AR
				Hypercholanemia, familial 1	607748	AR
USP53	4q26	Tight junction/epithelial barrier defects	Ubiquitin-specific peptidase 53	Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss	619658	AR
NR1H4	12q23.1	Transcriptional regulation of bile acid homeostasis	Nuclear receptor subfamily 1 group H member 4	Cholestasis, progressive familial intrahepatic, 5	617049	AR
MYO5B	18q21.1	Intracellular trafficking and epithelial defects	Myosin Vb	Cholestasis, progressive familial intrahepatic, 10	619868	AR
				Diarrhea 2, with microvillus atrophy, with or without cholestasis	251850	AR
VPS33B	15q26.1	Intracellular trafficking and epithelial defects	Vacuolar protein sorting-associated protein 33B	Arthrogryposis, renal dysfunction, and cholestasis 1	208085	AR
				Cholestasis, progressive familial intrahepatic, 12	620010	AR
				Keratoderma-ichthyosis-deafness syndrome, autosomal recessive	620009	AR
ZFYVE19	15q15.1	Ciliopathy/cholangiocyte architecture defects	Zinc finger FYVE domain-containing protein 19	Cholestasis, progressive familial intrahepatic, 9	619849	AR
SLC51A	3q29	Enterohepatic bile acid transport defects	Organic solute transporter alpha	Cholestasis, progressive familial intrahepatic, 6	619484	AR
KIF12	9q32	Ciliopathy/cholangiocyte polarity defects	Kinesin family member 12	Cholestasis, progressive familial intrahepatic, 8	619662	AR
SEMA7A	15q24.1	Signaling/inflammatory modulation	Semaphorin-7A	Cholestasis, progressive familial intrahepatic, 11	619874	AR
PSKH1	16q22.1	Ciliopathy/epithelial polarity defects	Protein serine kinase H1	Cholestasis, progressive familial intrahepatic, 13	620962	AR

HGNC: HUGO Gene Nomenclature Committee; OMIM: Online Mendelian Inheritance in Man; PFIC: Progressive familial intrahepatic cholestasis; AD: Autosomal dominant; AR: Autosomal recessive.