KEGG   DISEASE: Crigler-Najjar syndrome
Entry
H02054                      Disease                                
Name
Crigler-Najjar syndrome
  Supergrp
Hyperbilirubinemia [DS:H00208]
Description
Crigler-Najjar (CN) syndrome is a familial unconjugated hyperbilirubinemia. It is caused by deficiency of bilirubin-UDP-glucuronosyltransferase (UGT1A1) which is involved in the detoxification of bilirubin. There are two forms of CN. CN-1 is characterized by almost complete absence of UGT1A1 enzyme activity. Left untreated, CN-1 almost invariably results in death from bilirubin encephalopathy (kernicterus). CN-2 is characterized by intermediate levels of hyperbilirubinemia, due to a severe, but incomplete lack of UGT1A1 activity.
Category
Inherited metabolic disorder
Brite
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C58  Inborn errors of porphyrin or heme metabolism
     H02054  Crigler-Najjar syndrome
Pathway
hsa00860  Porphyrin metabolism
Gene
UGT1A1 [HSA:54658] [KO:K00699]
Other DBs
ICD-11: 5C58.00
ICD-10: E80.5
MeSH: D003414
OMIM: 218800 606785
Reference
  Authors
Costa E
  Title
Hematologically important mutations: bilirubin UDP-glucuronosyltransferase gene mutations in Gilbert and Crigler-Najjar syndromes.
  Journal
Blood Cells Mol Dis 36:77-80 (2006)
DOI:10.1016/j.bcmd.2005.10.006
Reference
  Authors
Kadakol A, Ghosh SS, Sappal BS, Sharma G, Chowdhury JR, Chowdhury NR
  Title
Genetic lesions of bilirubin uridine-diphosphoglucuronate glucuronosyltransferase (UGT1A1) causing Crigler-Najjar and Gilbert syndromes: correlation of genotype to phenotype.
  Journal
Reference
PMID:1634606
  Authors
Ritter JK, Yeatman MT, Ferreira P, Owens IS
  Title
Identification of a genetic alteration in the code for bilirubin UDP-glucuronosyltransferase in the UGT1 gene complex of a Crigler-Najjar type I patient.
  Journal
J Clin Invest 90:150-5 (1992)
DOI:10.1172/JCI115829
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