Reactome | Defective UGT1A1 causes hyperbilirubinemia

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Defective UGT1A1 causes hyperbilirubinemia Show undefined attributes

authored	[InstanceEdit:5579003] Jassal, Bijay, 2014-06-06
created	[InstanceEdit:5579003] Jassal, Bijay, 2014-06-06
crossReference	[DatabaseIdentifier:12020865] Mondo:0007745
dbId	5579002
disease	[Disease:5605024] bilirubin metabolic disorder [Disease:5605119] Gilbert syndrome [Disease:5604972] Crigler-Najjar syndrome
displayName	Defective UGT1A1 causes hyperbilirubinemia
edited	[InstanceEdit:5579003] Jassal, Bijay, 2014-06-06
eventOf	[Pathway:R-HSA-5579029] Metabolic disorders of biological oxidation enzymes - Homo sapiens
hasDiagram	true
hasEHLD	false
hasEvent	[FailedReaction:R-HSA-5604975] Defective UGT1A1 does not transfer GlcA from UDP-GlcA to BIL - Homo sapiens [FailedReaction:R-HSA-9036102] Defective UGT1A1 does not transfer GlcA from UDP-GlcA to BMG - Homo sapiens
isInDisease	true
isInferred	false
lastUpdatedDate	2023-06-07
literatureReference	[LiteratureReference:5604970] Hyperbilirubinemia syndromes (Gilbert-Meulengracht, Crigler-Najjar, Dubin-Johnson, and Rotor syndrome) [LiteratureReference:5605033] Influence of mutations associated with Gilbert and Crigler-Najjar type II syndromes on the glucuronidation kinetics of bilirubin and other UDP-glucuronosyltransferase 1A substrates [LiteratureReference:5605021] Hematologically important mutations: bilirubin UDP-glucuronosyltransferase gene mutations in Gilbert and Crigler-Najjar syndromes [LiteratureReference:5605019] Prolonged unconjugated hyperbilirubinemia associated with breast milk and mutations of the bilirubin uridine diphosphate- glucuronosyltransferase gene [LiteratureReference:5605017] New insights in bilirubin metabolism and their clinical implications
maxDepth	2
modified	[InstanceEdit:9847082] Weiser, Joel, 2023-10-12
name	Defective UGT1A1 causes hyperbilirubinemia
normalPathway	[Pathway:R-HSA-189445] Metabolism of porphyrins
releaseDate	2014-12-11
reviewStatus	[ReviewStatus:9821382] five stars
reviewed	[InstanceEdit:5634119] Nakaki, Toshio, 2014-11-03
schemaClass	Pathway
species	[Species:48887] Homo sapiens
stId	R-HSA-5579002
summation	[Summation:5605029] UDP-glucuronosyltransferases (UGTs) play a major role in the...
updateTrackers	[UpdateTracker:9785213] Update Tracker - [Pathway:5579002] Defective UGT1A1 causes hyperbilirubinemia - v52:[removeHasEvent] [UpdateTracker:9835709] Update Tracker - [Pathway:5579002] Defective UGT1A1 causes hyperbilirubinemia - v85:[updateContainedRLE] [UpdateTracker:9780007] Update Tracker - [Pathway:5579002] Defective UGT1A1 causes hyperbilirubinemia - v64:[addHasEvent, updateContainedRLE] [UpdateTracker:9778461] Update Tracker - [Pathway:5579002] Defective UGT1A1 causes hyperbilirubinemia - v68:[updateContainedRLE]

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[Pathway:R-HSA-5579029] Metabolic disorders of biological oxidation enzymes

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