KEGG   DISEASE: Transient familial neonatal hyperbilirubinemia
Entry
H02152                      Disease                                
Name
Transient familial neonatal hyperbilirubinemia;
Lucey-Driscoll syndrome
  Supergrp
Hyperbilirubinemia [DS:H00208]
Description
Transient familial neonatal hyperbilirubinemia, also known as Lucey-Driscoll syndrome, is a rare familial disorder that causes severe unconjugated hyperbilirubinemia in the first few days of life. It has been suggested that mutations in UGT1A1 cause this disease.
Category
Inherited metabolic disorder
Brite
Human diseases in ICD-11 classification [BR:br08403]
 19 Certain conditions originating in the perinatal period
  Haemorrhagic or haematological disorders of fetus or newborn
   KA87  Neonatal hyperbilirubinaemia
    H02152  Transient familial neonatal hyperbilirubinemia
Gene
UGT1A1 [HSA:54658] [KO:K00699]
Other DBs
ICD-11: KA87.Y
ICD-10: P59.8
MeSH: C562692
OMIM: 237900
Reference
  Authors
ARIAS IM, WOLFSON S, LUCEY JF, MCKAY RJ Jr
  Title
TRANSIENT FAMILIAL NEONATAL HYPERBILIRUBINEMIA.
  Journal
J Clin Invest 44:1442-50 (1965)
DOI:10.1172/JCI105250
Reference
  Authors
Maruo Y, Nishizawa K, Sato H, Sawa H, Shimada M
  Title
Prolonged unconjugated hyperbilirubinemia associated with breast milk and mutations of the bilirubin uridine diphosphate- glucuronosyltransferase gene.
  Journal
Pediatrics 106:E59 (2000)
DOI:10.1542/peds.106.5.e59
Reference
  Authors
Memon N, Weinberger BI, Hegyi T, Aleksunes LM
  Title
Inherited disorders of bilirubin clearance.
  Journal
Pediatr Res 79:378-86 (2016)
DOI:10.1038/pr.2015.247
LinkDB

ยป Japanese version

DBGET integrated database retrieval system