CRIGLER-NAJJAR SYNDROME TYPE II

Question 1

What is  CRIGLER-NAJJAR SYNDROME TYPE II?

Accepted Answer

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

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Crigler-Najjar-Syndrom Typ 2; Hereditäre unkonjugierte Hyperbilirubinämie Typ 2; Arias-Syndrom

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 606785

Question 4

Which enzymes are involved?

Accepted Answer

UDP-glucuronosyltransferase 1-1, UDP-glucuronosyltransferase 1-4

Disease	CRIGLER-NAJJAR SYNDROME TYPE II
Synonym	HYPERBILIRUBINEMIA I; HYPERBILIRUBINEMIA, UNCONJUGATED; CN2
OMIM	606785 OMIM = Online Mendelian Inheritance of Men
Orphanet	79235
Protein (UniProt)	UDP-glucuronosyltransferase 1-1, UDP-glucuronosyltransferase 1-4
Gene locus	2q37
ICD	E80.5
Summary	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