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MCID: CRG001
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Crigler-najjar Syndrome malady |
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Sources: 6Disease Ontology, 30NIH Rare Diseases, 17Genetics Home Reference, 44Wikipedia, 33OMIM, 22MalaCards See all sources Export this MalaCard |
NIH Rare Diseases: Crigler Najjar syndrome, type 1 is an inherited disorder in which bilirubin, a substance made by the liver, cannot be broken down. This condition occurs when the enzyme that normally converts bilirubin into a form that can easily be removed from the body does not work correctly. Without this enzyme, bilirubin can build up in the body and lead to jaundice and damage to the brain, muscles, and nerves. Crigler Najjar syndrome, type 1 is caused by mutations in the UGT1A1 gene. The condition is inherited in an autosomal recessive manner. Treatment relies on regular phototherapy throughout life. Blood transfusions and calcium compounds have also been used. Liver transplantation may be considered in some individuals. 30
MalaCards: Crigler-najjar Syndrome, also known as crigler-najjar syndrome, type i, is related to crigler najjar syndrome, type 2 and gilbert syndrome. An important gene associated with Crigler-najjar Syndrome is UGT1A1 (UDP glucuronosyltransferase 1 family, polypeptide A1), and among its related pathways are Sorafenib Pharmacokinetics and Nicotine Pathway, Pharmacokinetics. The compounds n-acetylbenzidine and sn38 glucuronide have been mentioned in the context of this disorder. Affiliated tissues include brain and liver. Disease Ontology: 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).6 Genetics Home Reference: Crigler-Najjar syndrome is a severe condition characterized by high levels of a toxic substance called bilirubin in the blood (hyperbilirubinemia). Bilirubin is produced when red blood cells are broken down. This substance is removed from the body only after it undergoes a chemical reaction in the liver, which converts the toxic form of bilirubin (called unconjugated bilirubin) to a nontoxic form called conjugated bilirubin. People with Crigler-Najjar syndrome have a buildup of unconjugated bilirubin in their blood (unconjugated hyperbilirubinemia).17 Wikipedia: Crigler–Najjar syndrome or CNS is a rare disorder affecting the metabolism of bilirubin, a chemical...44 more... OMIM: 218800 |
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Sources: 6Disease Ontology, 7diseasecard, 17Genetics Home Reference, 32Novoseek , 43UMLS, 16GeneTests, 30NIH Rare Diseases, 33OMIM, 40SNOMED-CT, 27NCIt, 24MeSH See all sources |
Aliases & Descriptions:
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Sources: 33OMIM See all sources |
Clinical features from OMIM: 218800
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Sources: 4CenterWatch, 29NIH Clinical Center, 5ClinicalTrials, 21LifeMap Discovery™, 43UMLS, 28NDF-RT See all sources |
Approved drugs:Search CenterWatch for crigler-najjar syndrome Drug clinical trials:Search ClinicalTrials for crigler-najjar syndrome Search NIH Clinical Center for crigler-najjar syndrome Search CenterWatch for crigler-najjar syndrome Cell-based therapeutics: The database of embryonic development, stem cell research and regenerative medicine Stem-Cell-Based therapeutic approaches for crigler-najjar syndrome:
Embryonic/Adult Cultured Cells Related to crigler-najjar syndrome:
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Sources: 16GeneTests See all sources |
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Sources: 21LifeMap Discovery™, 22MalaCards See all sources |
MalaCards organs/tissues related to crigler-najjar syndrome:22Brain, Liver The database of embryonic development, stem cell research and regenerative medicine Embryonic and adult cells/anatomical compartments related to crigler-najjar syndrome:
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Liver -> Liver Lobule -> |
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Sources: 35PubMed See all sources |
Articles related to crigler-najjar syndrome:(show all 38)
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Sources: 1BioGPS See all sources |
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Sources: 34PharmGKB, 38Reactome, 41Thomson Reuters, 10EMD Millipore, 20KEGG See all sources |
Pathways related to crigler-najjar syndrome according to GeneDecks:(show all 27)
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Sources: 32Novoseek , 18HMDB, 34PharmGKB, 9DrugBank, 42Tocris Bioscience See all sources |
Compounds related to crigler-najjar syndrome according to GeneDecks:(show top 50) (show all 93)
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Sources: 12Gene Ontology See all sources |
Cellular components related to crigler-najjar syndrome according to GeneDecks:
Biological processes related to crigler-najjar syndrome according to GeneDecks:(show all 12)
Molecular functions related to crigler-najjar syndrome according to GeneDecks:
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