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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Rotor syndrome


Other Names for this Disease
  • Hyperbilirubinemia, Rotor type
  • Rotor-type hyperbilirubinemia
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Tests & Diagnosis

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How is Rotor syndrome diagnosed?

Rotor syndrome is diagnosed based on symptoms and various laboratory tests. Physical exams in affected people are typically normal, except for mild jaundice.

There are two forms of bilirubin in the body: a toxic form called unconjugated bilirubin and a nontoxic form called conjugated bilirubin. People with Rotor syndrome have a buildup of both in their blood (hyperbilirubinemia), but having elevated levels of conjugated bilirubin is the hallmark of the disorder. Conjugated bilirubin in affected people is usually more than 50% of total bilirubin.[1][2]

To confirm a disgnosis of Rotor syndrome, a person may have the following performed:
Last updated: 4/9/2015

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


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.