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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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Your Question

The underlying genetic cause for Rotor syndrome was recently indentified. Can you post information about this on your web site?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What causes Rotor syndrome?

Rotor syndrome is an inherited disorder caused by having mutations in both the SLCO1B1 and SLCO1B3 genes. These genes provide instructions for making proteins that are found in liver cells, where they transport bilirubin and other substances from the blood into the liver so that they can be cleared from the body. In the liver, bilirubin is dissolved in a digestive fluid called bile, and then excreted from the body.[1]

The mutations in the SLCO1B1 and SLCO1B3 genes that cause Rotor syndrome either prevent the production of the transporting proteins, or prevent them from functioning properly. When this occurs, bilirubin is not effectively removed from the body and builds up, leading to jaundice.[1]

Last updated: 4/9/2015

References
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.