Alerts and Notices
SynopsisRotor syndrome is a rare autosomal recessive metabolic disorder of the liver caused by mutations in both the SLCO1B1 and SLCO1B3 genes, resulting in mild conjugated and unconjugated hyperbilirubinemia (typically, total bilirubin ranges from 2-5 mg/dL). The condition is benign and chronic.
Common signs and symptoms include icteric sclera and recurrent jaundice with laboratory findings significant for conjugated and unconjugated hyperbilirubinemia. Symptoms may initially present soon after birth or during childhood and may be recurrent. Unlike Dubin-Johnson syndrome, the liver in patients with Rotor syndrome has normal pigmentation.
E80.6 – Other disorders of bilirubin metabolism
32891000 – Rotor syndrome
Differential Diagnosis & Pitfalls
- Dubin-Johnson syndrome
- Progressive familial intrahepatic cholestasis (PFIC)
- Benign recurrent intrahepatic cholestasis
- Alagille syndrome
- Biliary atresia
- Wilson disease
- Alpha-1 antitrypsin deficiency
- Pruritus of pregnancy