CRIGLER-NAJJAR SYNDROME TYPE I

Question 1

What is  CRIGLER-NAJJAR SYNDROME TYPE I?

Accepted Answer

very rare (0.6-1.0 per million live births)
autosomal recessive
mutation in the UDP-glycuronosyltransferase gene
severe unconjugated hyperbilirubinemia develops during the first 3 days of life, absence of hepatic bilirubin-uridinediphosphoglucuronate glucuronosyltransferase (UGT1A1) activity

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Crigler-Najjar-Syndrom Typ 1; Hereditäre unkonjugierte Hyperbilirubinämie Typ 1

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 218800

Question 4

Which enzymes are involved?

Accepted Answer

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

Disease	CRIGLER-NAJJAR SYNDROME TYPE I
Synonym	CRIGLER-NAJJAR SYNDROME; UDP-GLUCURONOSYLTRANSFERASE, SEVERE DEFICIENCY TYPE I; CN1
OMIM	218800 OMIM = Online Mendelian Inheritance of Men
Orphanet	79234
Protein (UniProt)	UDP-glucuronosyltransferase 1-1, UDP-glucuronosyltransferase 1-4
Gene locus	2q37.1
ICD	E80.5
Summary	very rare (0.6-1.0 per million live births) autosomal recessive mutation in the UDP-glycuronosyltransferase gene severe unconjugated hyperbilirubinemia develops during the first 3 days of life, absence of hepatic bilirubin-uridinediphosphoglucuronate glucuronosyltransferase (UGT1A1) activity
Laboratory findings	Bilirubin inc (serum) Bilirubin inc (bile) Bilirubin, unconjugated inc (serum) UDP-glucuronyltransferase dec (liver)
Symptoms	cirrhosis or fibrosis of liver early death encephalopathy jaundice kernicterus onset, neonatal stool color