- Hyperbilirubinemia, Rotor type
- Rotor-type hyperbilirubinemia
Your QuestionThe underlying genetic cause for Rotor syndrome was recently indentified. Can you post information about this on your web site?
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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.
- Rotor syndrome. Genetics Home Reference (GHR). March 2013; http://ghr.nlm.nih.gov/condition/rotor-syndrome.