| Entry |
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| Name |
Hyperbilirubinemia;
Crigler-Najjar syndrome, type I (CN1);
Crigler-Najjar syndrome, type II (CN2);
Gilbert Syndrome;
Dubin-Johnson syndrome (DJS)
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| Description |
Gilbert disease and Crigler-Najjar syndromes result in unconjugated hyperbilirubinemia caused by deficiency of bilirubin-UDP-glucuronosyltransferase which is involved in the detoxification of bilirubin by conjugation with glucuronic acid. Gilbert disease is a benign familial disorder characterized by low-grade chronic hyperbilirubinemia, while Crigler-Najjar syndromes are more severe by kernicterus and jaundice.
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| Category |
Inherited metabolic disease; Liver disease
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| Pathway |
| Porphyrin and chlorophyll metabolism | | ABC transporters | | Bile secretion |
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| Gene |
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| Marker |
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| Drug |
(CN2) Phenobarbital [DR: D00506]
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| Other DBs |
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| Reference |
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| Authors |
Costa E |
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| Title |
Hematologically important mutations: bilirubin UDP-glucuronosyltransferase gene mutations in Gilbert and Crigler-Najjar syndromes. |
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| Journal |
Blood Cells Mol Dis 36:77-80 (2006) |
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| Reference |
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| Authors |
Bosma PJ |
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| Title |
Inherited disorders of bilirubin metabolism. |
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| Journal |
J Hepatol 38:107-17 (2003) |
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| Reference |
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| Authors |
Kadakol A, Ghosh SS, Sappal BS, Sharma G, Chowdhury JR, Chowdhury NR |
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| Title |
Genetic lesions of bilirubin uridine-diphosphoglucuronate glucuronosyltransferase (UGT1A1) causing Crigler-Najjar and Gilbert syndromes: correlation of genotype to phenotype. |
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| Journal |
Hum Mutat 16:297-306 (2000) |
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| Reference |
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| Authors |
Sampietro M, Iolascon A |
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| Title |
Molecular pathology of Crigler-Najjar type I and II and Gilbert's syndromes. |
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| Journal |
Haematologica 84:150-7 (1999) |
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| Reference |
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| Authors |
Keitel V, Nies AT, Brom M, Hummel-Eisenbeiss J, Spring H, Keppler D |
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| Title |
A common Dubin-Johnson syndrome mutation impairs protein maturation and transport activity of MRP2 (ABCC2). |
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| Journal |
Am J Physiol Gastrointest Liver Physiol 284:G165-74 (2003) |
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