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Rotor syndrome
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Rotor syndrome

Contributors: Abhijeet Waghray MD, Paritosh Prasad MD
Other Resources UpToDate PubMed

Synopsis

Rotor 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.

For more information, see OMIM.

Codes

ICD10CM:
E80.6 – Other disorders of bilirubin metabolism

SNOMEDCT:
32891000 – Rotor syndrome

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Last Reviewed:12/20/2017
Last Updated:01/22/2018
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Rotor syndrome
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Rotor syndrome : Jaundice, Icteric sclera, Hyperbilirubinemia
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