Progressive familial intrahepatic cholestasis type 2

Orpha code: 79304OMIM code: 601847

Definition

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
Classification

Clinical subtype

Synonyms
BSEP deficiency
Niedobór BSEP
PFIC2
PFIC2
ORPHA code
79304
OMIM code
601847
ICD10 code
K76.8
ICD11 code
-

No additional description.

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