Rotor syndrome is a relatively mild condition characterized by elevated levels of a substance called bilirubin in the blood (hyperbilirubinemia). Bilirubin is produced when red blood cells are broken down. It has an orange-yellow tint, and buildup of this substance can cause yellowing of the skin or whites of the eyes (jaundice). In people with Rotor syndrome, jaundice is usually evident shortly after birth or in childhood and may come and go; yellowing of the whites of the eyes (also called conjunctival icterus) is often the only symptom.
The SLCO1B1 and SLCO1B3 genes are involved in Rotor syndrome. Mutations in both genes are required for the condition to occur. The SLCO1B1 and SLCO1B3 genes provide instructions for making similar proteins, called organic anion transporting polypeptide 1B1 (OATP1B1) and organic anion transporting polypeptide 1B3 (OATP1B3), respectively. Both proteins are found in liver cells; they transport bilirubin and other compounds 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.
Rotor syndrome is a rare condition, although its prevalence is unknown.
This condition is inherited in an autosomal recessive pattern. In autosomal recessive inheritance, both copies of a gene in each cell have mutations. In Rotor syndrome, an affected individual must have mutations in both the SLCO1B1 and the SLCO1B3 gene, so both copies of the two genes are altered. The parents of an individual with this condition each carry one altered copy of both genes, but they do not show signs and symptoms of the condition.
Libor Vitek is in Prague, Czech Republic. Vitek is rated as an Elite expert by MediFind in the treatment of Rotor Syndrome. They are also highly rated in 11 other conditions, according to our data. Their top areas of expertise are Rotor Syndrome, Congenital Nonhemolytic Jaundice, Jaundice, and Crigler-Najjar Syndrome.
Sem Aronson is in Amsterdam, Netherlands. Aronson is rated as an Elite expert by MediFind in the treatment of Rotor Syndrome. He is also highly rated in 2 other conditions, according to our data. His top areas of expertise are Crigler-Najjar Syndrome, Rotor Syndrome, Progressive Familial Intrahepatic Cholestasis Type 3, and Progressive Familial Intrahepatic Cholestasis Type 1.
Yoshihiro Maruo is in Otsu, Japan. Maruo is rated as an Elite expert by MediFind in the treatment of Rotor Syndrome. He is also highly rated in 13 other conditions, according to our data. His top areas of expertise are Rotor Syndrome, Crigler-Najjar Syndrome, Jaundice, and Congenital Nonhemolytic Jaundice.
Published Date:updated Last, March
Published By: National Institutes of Health