Crigler Najjar syndrome, type 2
Other Names for this Disease
- Crigler-Najjar syndrome, type II
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 This condition is less severe than the type 1 form, however the severity of type II can vary greatly. Almost all patients with Crigler Najjar syndrome, type 2 develop normally, but there is a risk for some neurologic damage from kernicterus (bilirubin accumulation in the brain). In general people with type 2 Crigler Najjar syndrome have serum bilirubin levels ranging from 20 to 45 mg/dL. Phenobarbital treatment is the standard therapy for this condition and can often help to drastically reduce the bilirubin levels.Crigler Najjar syndrome, type 2 is caused by mutations in the UGT1A1 gene. The gene mutation causes the body to be unable to make adequate enzyme to convert bilirubin into a form that can easily be removed from the body. Without this enzyme, bilirubin can build up in the body and lead to extraordinarily yellow skin and eyes (jaundice).
Last updated: 1/19/2011
- Crigler Najjar syndrome. MedlinePlus. http://www.nlm.nih.gov/medlineplus/ency/article/001127.htm. Accessed 1/19/2011.
- Crigler Najjar syndrome, type II. Online Mendelian Inheritance in Man. http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606785. Accessed 1/19/2011.
- Genetics Home Reference (GHR) contains information on Crigler Najjar syndrome, type 2. This website is maintained by the National Library of Medicine.
- MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Crigler Najjar syndrome, type 2. Click on the link to view a sample search on this topic.
- Labrune P. Crigler-Najjar syndrome. Orphanet Encyclopedia. 2004 Jan.