Rotor syndrome

Definition:

Rotor syndrome is an autosomal recessive disorder characterized by conjugated hyperbilirubinemia, coproporphyrinuria, and near-absent hepatic uptake of anionic diagnostics. It is linked to mutations predicted to cause complete deficiencies of the organic anion transporting polypeptides OATP1B1 and OATP1B3.

References:

[1]. Christian P Strassburg, et al. Hyperbilirubinemia syndromes (Gilbert-Meulengracht, Crigler-Najjar, Dubin-Johnson, and Rotor syndrome). Best Pract Res Clin Gastroenterol. 2010 Oct;24(5):555-71. [Content Brief]

[2]. Evita van de Steeg, et al. Complete OATP1B1 and OATP1B3 deficiency causes human Rotor syndrome by interrupting conjugated bilirubin reuptake into the liver. J Clin Invest. 2012 Feb;122(2):519-28. [Content Brief]

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