Disease

Progressive Familial Intrahepatic Cholestasis Type 1

About the Disease
Cholestasis, Progressive Familial Intrahepatic, 1, also known as byler disease, is related to cholestasis, progressive familial intrahepatic, 3 and cholestasis, progressive familial intrahepatic, 4, and has symptoms including diarrhea, icterus and pruritus. An important gene associated with Cholestasis, Progressive Familial Intrahepatic, 1 is ATP8B1 (ATPase Phospholipid Transporting 8B1), and among its related pathways/superpathways are Transport of inorganic cations/anions and amino acids/oligopeptides and Cardiac conduction. The drugs Bile Acids and Salts and Liver Extracts have been mentioned in the context of this disorder. Affiliated tissues include liver, appendix and lung, and related phenotypes are osteopenia and hepatomegaly

Common Targets
PKD1 | PLEC | ABCB4 | ATP8B1 | AKR1D1 | ABCC2 | HLA-DRA | CCL13 | JAG1 | NR1H4 | ABCG8 | SLC10A2 | NOTCH2 | G6PD | SLCO1B1 | ABCB11 | TJP2

疾病靶点研报
Progressive Familial Intrahepatic Cholestasis Type 1

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