Rotor syndrome


Type of disease: Rare conditions

Rotor syndrome is a hereditary disorder of bilirubin metabolism. In Rotor syndrome there is an increase in the amount of bilirubin in the blood (hyperbilirubinemia). Rotor syndrome is characterized by jaundice, which is a yellowing of the skin and whites of the eyes.  Rotor syndrome is caused by mutations in the SLCO1B1 and SLCO1B3 genes. Mutations in both genes are required for the condition to occur.  This condition is inherited in an autosomal recessive fashion. Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.

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