CRIGLER-NAJJAR SYNDROME TYPE II | |
HYPERBILIRUBINEMIA I; HYPERBILIRUBINEMIA, UNCONJUGATED; CN2 | |
606785
OMIM = Online Mendelian Inheritance of Men | |
79235 | |
UDP-glucuronosyltransferase 1-1, UDP-glucuronosyltransferase 1-4 | |
2q37 |
|
E80.5 | |
rare autosomal recessive mutation in the UDP-glucuronosyltransferase gene marked variability of penetrance, incomplete deficiency of hepatic UGT1A1 activity, clinically difficult to distinguish from Gilberts syndrome | |
Laboratory findings | Bilirubin inc (serum) Bilirubin, unconjugated inc (serum) UDP-glucuronyltransferase dec (liver) |
Symptoms | cholecystitis jaundice kernicterus onset, childhood onset, neonatal stool color |