Progressive familial intrahepatic cholestasis type 2

Orpha code: 79304OMIM code: 601847

Definicja

Progressive familial intrahepatic cholestasis type 2 (PFIC2), a type of progressive familial intrahepatic cholestasis (PFIC, see this term), 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.

Disease data
Klasyfikacja

Clinical subtype

Synonimy
BSEP deficiency
Niedobór BSEP
PFIC2
PFIC2
Kod ORPHA
79304
Kod OMIM
601847
Kod ICD10
K76.8
Kod ICD11
-

No additional description.

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