Table 1.

Overview of genes associated with PFIC and their related histological and phenotypic characteristics.[1], [2], [3], [4], [5], [6], [7], [8], [9], [10], [11], [12], [13], [14].

Protein deficiency	Mutated gene	Histological characteristics	Phenotypic characteristics
FIC15	ATP8B1	•Canalicular cholestasis •Giant cell transformation •Ductular paucity •Lobular disarray	•Early infancy •Low GGT •Jaundice •Pruritus •Hepatosplenomegaly •Hearing loss •Diarrhoea •Poor growth
BSEP6	ABCB11	•Canalicular cholestasis •Hepatocellular disarray •Lobular and portal fibrosis	•Early infancy •Low GGT •Hepatocellular carcinoma/cholangiocarcinoma •Jaundice •Pruritus •Hepatomegaly •Poor growth
MDR37	ABCB4	•Portal fibrosis •Bile duct proliferation •Mild giant cell hepatitis	•Later in childhood/young adulthood •High GGT •Hepatocellular carcinoma/cholangiocarcinoma •Jaundice •Pruritus •Hepatosplenomegaly •Portal hypertension •Reduced bone density
TJP28	TJP2	•Intracellular cholestasis •Giant cell transformation	•Early infancy •Low GGT •Hepatocellular carcinoma/cholangiocarcinoma •Jaundice •Pruritus •Rapid progression
FXR9	NR1H4	•Intralobular cholestasis •Hepatocellular ballooning •Giant cell transformation •Fibrosis	•Early infancy •Normal GGT •Rapid progression •Vitamin K independent coagulopathy •Hyperammonaemia
OSTα-OSTβ10	SLC51A	•Not reported	•Early infancy •High GGT •Diarrhoea
USP5311	USP53	•Not reported	•Early infancy/later in childhood •Low GGT •Pruritus •Hypocalcaemia •Hearing loss
KIF1212	KIF12	•Not reported	•Early infancy/later in childhood •High GGT
MYO5B13	MYO5B	•Hepatocellular cholestasis •Portal and lobular fibrosis •Giant cell transformation •Abnormal BSEP and MDR3 staining	•Early infancy •Low GGT •Hepatomegaly •Pruritus •Diarrhoea •Poor growth •Microvillus inclusion disease and intestinal failure
LSR14	LSR	•Not reported	•Early infancy •Low GGT •Pruritus
WDR83OS11	WDR83OS	•Not reported	•Later in childhood •Microcephaly •Dysmorphic facies •Genital abnormalities

GGT, gamma-glutamyltransferase; n.a., not applicable; PFIC, progressive familial intrahepatic cholestasis.