LiverAtlas Disease ID | HuLDi00166 |
Name | Crigler-Najjar syndrome, type 1 |
Description | | Xref: |
Definition | Crigler-Najjar syndrome is a rare autosomal recessive disorder of bilirubin metabolism. Two distinct forms have been described, as follows: type 1 and type 2. Type 1 Crigler-Najjar syndrome, first described in 1952 by Crigler and Najjar, is associated with neonatal unconjugated hyperbilirubinemia (high levels) and kernicterus. | Xref: URL |
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Synonym | Crigler-Najjar syndrome, type 1 | EXACT | Xref: Clinical Hepatology, 2004:Page 583 |
Crigler-Najjar syndrome, type I | EXACT | Xref: SNOMEDCT_2005_07_31:8933000 |
Crigler-Najjar syndrome, type ?? | EXACT | Xref: SNOMEDCT_2005_07_31:8933000 |
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Xref | Clinical Hepatology,2004.Page 584 |
Clinical Hepatology,2004.Page 762 |
Schiff's Diseases of the LIVER,10ed:Page 228 |
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Genetics Relation | Gene/Protein/Pathway |
Gene:UGT1A1 |
Protein: |