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Details on Person Crigler-Najjar syndrome

Class:Id	Disease:5604972
_displayName	Crigler-Najjar syndrome
_timestamp	2014-07-03 14:53:56
created	[InstanceEdit:5604980] Jassal, Bijay, 2014-07-03
definition	A bilirubin metabolic disorder that involves a build up of bilirubin as bilirubin is not being broken down as a result of a lack or deficiency of the enzyme uridine diphosphate glycosyltransferase (UGT).
identifier	3803
name	Crigler-Najjar syndrome
referenceDatabase	[ReferenceDatabase:1247631] DOID
synonym	Bilirubin UDP glucuronyl transferase deficiency Crigler Najjar syndrome Crigler-Najjar syndrome (disorder) Crigler-Najjar syndrome Crigler-Najjar syndrome, type I (disorder)
(disease)	[Pathway:5579002] Defective UGT1A1 causes hyperbilirubinemia [Homo sapiens] [Pathway:5579016] Defective UGT1A4 causes hyperbilirubinemia [Homo sapiens] [FailedReaction:5604954] Defective UGT1A4 does not transfer GlcA from UDP-GlcA to BIL [Homo sapiens] [FailedReaction:5604975] Defective UGT1A1 does not transfer GlcA from UDP-GlcA to BIL [Homo sapiens] [FailedReaction:9036102] Defective UGT1A1 does not transfer GlcA from UDP-GlcA to BMG [Homo sapiens] [FailedReaction:9036104] Defective UGT1A4 does not transfer GlcA from UDP-GlcA to BMG [Homo sapiens] [EntityWithAccessionedSequence:5604959] UGT1A1 Y293Mfs*69 [endoplasmic reticulum membrane] [Homo sapiens] [EntityWithAccessionedSequence:5604963] UGT1A1 G309E [endoplasmic reticulum membrane] [Homo sapiens] [EntityWithAccessionedSequence:5604983] UGT1A1 S376F [endoplasmic reticulum membrane] [Homo sapiens] [EntityWithAccessionedSequence:5604984] UGT1A1 L15R [endoplasmic reticulum membrane] [Homo sapiens] List all 14 refering instances
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No pathways have been reviewed or authored by Crigler-Najjar syndrome (5604972)