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GENATLAS PHENOTYPE

last update : 21-03-2018

Symbol	PFIC5
Location	12q23.1
Name	cholestasis, progressive familial intrahepatic, 5
Corresponding gene	NR1H4
Main clinical features	severe liver disorder characterized by onset of intralobular cholestasis in the neonatal period; the disease is rapidly progressive, leading to liver failure and death associated with abnormal liver enzymes, low to normal gamma-glutamyl transferase (GGT) activity, increased alpha-fetoprotein, and a vitamin K-independent coagulopathy
Genetic determination	autosomal recessive
Function/system disorder	digestive tract/liver and annex
Type	disease

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