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ENCholestasis, Progressive Familial Intrahepatic, 4 (PFIC4)
Alias:
Pfic4
Tjp2 Deficit
Progressive Familial Intrahepatic Cholestasis Type 4
Cholestasis, Progressive Familial Intrahepatic 4
Progressive Familial Intrahepatic Cholestasis 4
Cholestasis, Intrahepatic, Familial, Progressive, Type 4
Bile Acid Synthesis Defect, Congenital, 1
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Cholestasis, Progressive Familial Intrahepatic, 4, also known as pfic4, is related to familial intrahepatic cholestasis and intrahepatic cholestasis, and has symptoms including diarrhea and icterus. An important gene associated with Cholestasis, Progressive Familial Intrahepatic, 4 is TJP2 (Tight Junction Protein 2), and among its related pathways/superpathways are Metabolism and Nuclear receptors meta-pathway. Affiliated tissues include liver, and related phenotypes are cirrhosis and hepatocellular carcinoma
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