Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition A form of Crigler Najjar syndrome (CNS), a rare hereditary disorder of bilirubin metabolism, characterized by unconjugated hyperbilirubinemia due to reduced and inducible activity of hepatic UDP-glucuronosyltransferase 1A1. The disorder clinically manifests with neonatal, isolated jaundice with a risk of developing bilirubin encephalopathy later in life due to triggers such as stress or infection. Disease data Classification Clinical subtype Synonyms Bilirubin uridinediphosphate glucuronosyltransferase deficiency type 2 Dziedziczna niesprzężona hiperbilirubinemia typu 2 Niedobó UGT typu 2 Niedobór bilirubiny-UGT typu 2 Niedobór urydynodifosforan-glukuronosylotransferazy bilirubiny typu 2 Zespół Ariasa Bilirubin-UGT deficiency type 2 ORPHA code 79235 OMIM code 606785 ICD10 code E80.5 ICD11 code - *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl