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Rotor syndrome


Other Names for this Disease

  • Hyperbilirubinemia, Rotor type
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Overview

Rotor syndrome is a hereditary disorder of bilirubin metabolism. In Rotor syndrome there is an increase in the amount of bilirubin in the blood (hyperbilirubinemia). Rotor syndrome is characterized by jaundice, which is a yellowing of the skin and whites of the eyes.[1][2] Rotor syndrome is caused by mutations in the SLCO1B1 and SLCO1B3 genes. Mutations in both genes are required for the condition to occur.[3][4] This condition is inherited in an autosomal recessive fashion.[1][2]
Last updated: 12/12/2013

References

  1. Strassburg CP. Hyperbilirubinemia syndromes (Gilbert-Meulengracht, Crigler-Najjar, Dubin-Johnson, and Rotor syndrome). Best Pract Res Clin Gastroenterol. 2010 Oct;
  2. Crawford JM, Liu C. Liver and Biliary Tract. In: Kumar eds.,. Robbins and Cotran Pathologic Basis of Disease, Professional Edition , 8th ed. Philadelphia, PA: Saunders; 2009;
  3. Rotor syndrome. Genetics Home Reference (GHR). March 2013; http://ghr.nlm.nih.gov/condition/rotor-syndrome. Accessed 12/12/2013.
  4. Hyperbilirubinemia, Rotor Type. Online Mendelian Inheritance in Man (OMIM). July 2013; http://omim.org/entry/237450. Accessed 12/12/2013.
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Basic Information

In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) is an 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. 
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Rotor syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Hyperbilirubinemia, Rotor type
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.