Progressive Familial Intrahepatic Cholestasis Type 2

About the Disease
Cholestasis, Progressive Familial Intrahepatic, 2, also known as pfic2, is related to familial intrahepatic cholestasis and atp8b1 deficiency, and has symptoms including diarrhea, icterus and pruritus. An important gene associated with Cholestasis, Progressive Familial Intrahepatic, 2 is ABCB11 (ATP Binding Cassette Subfamily B Member 11), and among its related pathways/superpathways are Metabolism and Transport of inorganic cations/anions and amino acids/oligopeptides. The drug Bile Acids and Salts has been mentioned in the context of this disorder. Affiliated tissues include liver and spleen, and related phenotypes are failure to thrive and splenomegaly

Common Targets
ABCB11

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