progressive familial intrahepatic cholestasis type 2

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Disease Overview

Progressive familial intrahepatic cholestasis type 2 (PFIC2), a type of progressive familial intrahepatic cholestasis (PFIC), is a severe, neonatal, hereditary disorder in bile formation that is hepatocellular in origin and not associated with extrahepatic features. Initially, PFIC2 was reported under the name Byler syndrome.


Synonyms

  • ABCB11 progressive familial intrahepatic cholestasis
  • BSEP deficiency
  • PFIC2
  • cholestasis, progressive familial intrahepatic 2
  • cholestasis, progressive familial intrahepatic, 2
  • cholestasis, progressive familial intrahepatic, type 2
  • progressive familial intrahepatic cholestasis caused by mutation in ABCB11
  • progressive familial intrahepatic cholestasis type 2
  • severe ABCB11 deficiencyABCB11 progressive familial intrahepatic cholestasis
  • BSEP deficiency
  • PFIC2
  • cholestasis, progressive familial intrahepatic 2
  • cholestasis, progressive familial intrahepatic, 2
  • cholestasis, progressive familial intrahepatic, type 2
  • progressive familial intrahepatic cholestasis caused by mutation in ABCB11
  • progressive familial intrahepatic cholestasis type 2
  • severe ABCB11 deficiency