Reactome | Defective UGT1A1 causes hyperbilirubinemia

Defective UGT1A1 causes hyperbilirubinemia

Stable Identifier

R-HSA-5579002

Type

Pathway

Species

Homo sapiens

ReviewStatus

5/5

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Defective UGT1A1 causes hyperbilirubinemia

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UDP-glucuronosyltransferases (UGTs) play a major role in the conjugation and therefore elimination of potentially toxic xenobiotics and endogenous compounds. The 1-1 isoform UGT1A1 is able to act upon lipophilic bilirubin, the end product of heme breakdown. Defects in UGT1A1 can cause hyperbilirubinemia syndromes ranging from mild forms such as Gilbert syndrome (GILBS; MIM:143500) and transient familial neonatal hyperbilirubinemia (HBLRTFN; MIM:237900) to the more severe Crigler-Najjar syndromes 1 and 2 (CN1, CN2; MIM:218800 and MIM:606785) (Sticova & Jirsa 2013, Strassburg 2010, Udomuksorn et al. 2007, Costa 2006, Maruo et al. 2000).

Literature References

PubMed ID	Title	Journal	Year
20955959	Hyperbilirubinemia syndromes (Gilbert-Meulengracht, Crigler-Najjar, Dubin-Johnson, and Rotor syndrome) Strassburg, CP	Best Pract Res Clin Gastroenterol	2010
11061796	Prolonged unconjugated hyperbilirubinemia associated with breast milk and mutations of the bilirubin uridine diphosphate- glucuronosyltransferase gene Sato, H, Sawa, H, Maruo, Y, Shimada, M, Nishizawa, K	Pediatrics	2000
24151358	New insights in bilirubin metabolism and their clinical implications Jirsa, M, Sticová, E	World J. Gastroenterol.	2013
18004206	Influence of mutations associated with Gilbert and Crigler-Najjar type II syndromes on the glucuronidation kinetics of bilirubin and other UDP-glucuronosyltransferase 1A substrates Miners, JO, Yoovathaworn, K, Udomuksorn, W, Lewis, BC, Mackenzie, PI, Elliot, DJ	Pharmacogenet. Genomics	2007
16386929	Hematologically important mutations: bilirubin UDP-glucuronosyltransferase gene mutations in Gilbert and Crigler-Najjar syndromes Costa, E	Blood Cells Mol. Dis.	2006

Participants

Events

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Metabolic disorders of biological oxidation enzymes (Homo sapiens)

Disease

Name	Identifier	Synonyms
Gilbert syndrome	DOID:2739	hereditary nonhemolytic jaundice, Gilbert's disease, Constitutional hyperbilirubinemia, Gilbert-Meulengracht syndrome, Gilbert's syndrome
Crigler-Najjar syndrome	DOID:3803	Bilirubin UDP glucuronyl transferase deficiency, Crigler Najjar syndrome, Crigler-Najjar syndrome (disorder), Crigler-Najjar syndrome, Crigler-Najjar syndrome, type I (disorder)
bilirubin metabolic disorder	DOID:2741	hyperbilirubinemia, hereditary hyperbilirubinemia

Authored

Jassal, B (2014-06-06)

Reviewed

Nakaki, T (2014-11-03)

Created

Jassal, B (2014-06-06)

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