Crigler-Najjar syndrome

Orpha code: 205OMIM code: 606785

Definition

A rare hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to a either a complete (type 1) or partial and inducible (type 2) hepatic deficit of UDP-glucuronosyltransferase 1A1 activity. The disorder manifests with neonatal jaundice with a risk of developing bilirubin encephalopathy.

Disease data
Classification

Disease

Synonyms
Bilirubin uridinediphosphate glucuronosyltransferase deficiency
Dziedziczna nieskoniugowana hiperbilirubinemia
Niedobór bilirubiny-UGT
Niedobór UGT
Niedobór urydynodifosforanu glukuronylotransferazy bilirubiny
Bilirubin-UGT deficiency
ORPHA code
205
OMIM code
606785
ICD10 code
E80.5
ICD11 code
5C58.00

No additional description.

Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl