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Rotor syndrome
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Condition

Rotor syndrome

Rotor syndrome is a rare, mild, inherited condition that causes elevated levels of bilirubin in the blood, often resulting in jaundice.

Overview

Rotor syndrome is a relatively mild condition characterized by hyperbilirubinemia, an elevated level of bilirubin in the blood. Bilirubin is a yellow-orange substance produced when red blood cells are broken down. The buildup of this substance can cause yellowing of the skin or the whites of the eyes (jaundice).

Symptoms

  • Jaundice is usually evident shortly after birth or in childhood.
  • Yellowing of the whites of the eyes (conjunctival icterus) is often the only symptom.
  • Symptoms may come and go.
  • Affected individuals have a buildup of both unconjugated and conjugated bilirubin, with the majority being conjugated.

Causes

Rotor syndrome is caused by mutations in both the SLCO1B1 and SLCO1B3 genes. These genes provide instructions for making proteins called OATP1B1 and OATP1B3, which are found in liver cells. These proteins are responsible for transporting bilirubin and other compounds from the blood into the liver so they can be cleared from the body. Mutations in these genes result in nonfunctional or absent proteins, preventing the liver from efficiently taking up and excreting bilirubin.

Inheritance

This condition is inherited in an autosomal recessive pattern. An affected individual must have mutations in both copies of the SLCO1B1 gene and both copies of the SLCO1B3 gene. Parents of an affected individual each carry one altered copy of both genes but do not exhibit symptoms of the syndrome.

Frequently Asked Questions

The most frequent sign is a mild yellowing of the skin or the whites of the eyes (conjunctival icterus). It may appear shortly after birth or during early childhood and can come and go. Parents should watch for persistent or worsening jaundice, especially if it is accompanied by dark urine or pale stools, and report it to a pediatrician.
Because Rotor syndrome involves impaired hepatic uptake of bilirubin and other substances, drugs that are heavily processed by the liver or that compete for the same transporters (such as certain statins, antibiotics, or antifungals) may have increased plasma levels. Patients should inform their prescriber of the diagnosis, and the prescriber may adjust doses or choose alternative medications.
Rotor syndrome is autosomal recessive; each parent is a carrier. For each pregnancy, there is a 25% chance the child will be affected, a 50% chance the child will be a carrier, and a 25% chance the child will be unaffected. Couples can benefit from genetic counseling and may opt for carrier testing or prenatal testing if desired.===
Routine monitoring is usually every 6 to 12 months, but more frequent testing (every 3 to 6 months) may be advised if bilirubin levels rise or if new symptoms appear. Normal total bilirubin is typically less than 1.2 mg/dL; values above 1.5 mg/dL in a stable patient may warrant closer observation.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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