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Diseases

Genetic and Rare Diseases Information Center (GARD)

Rotor syndrome


Other Names for this Disease
  • Hyperbilirubinemia, Rotor type
  • Rotor-type hyperbilirubinemia
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Overview

Rotor syndrome is an inherited disorder characterized by elevated levels of bilirubin in the blood (hyperbilirubinemia). Bilirubin is produced when red blood cells are broken down, and has an orange-yellow tint. The buildup of bilirubin in the body causes yellowing of the skin or whites of the eyes (jaundice), which is the only symptom of the disorder. Jaundice is usually evident in infancy or early childhood, and it may come and go. Rotor syndrome is caused by having mutations in both the SLCO1B1 and SLCO1B3 genes and is inherited in an autosomal recessive manner. The disorder is generally considered benign, and no treatment is needed.[1][2]
Last updated: 4/8/2015

References

  1. Milan Jirsa, AS Knisely, Alfred Schinkel, and Stanislav Kmoch. Rotor Syndrome. GeneReviews. December 13, 2012; http://www.ncbi.nlm.nih.gov/books/NBK114805/.
  2. Rotor syndrome. Genetics Home Reference (GHR). March 2013; http://ghr.nlm.nih.gov/condition/rotor-syndrome.
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Basic Information

In Depth Information

  • 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 Rotor syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Hyperbilirubinemia, Rotor type
  • Rotor-type hyperbilirubinemia
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.