Conditions · Metabolism: heme, bilirubin and iron
Rotor syndrome !
A benign inherited condition with mild conjugated jaundice, because the liver poorly takes bilirubin back up from the blood.
Updated 2026-11-01
Structures involved
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In biochemistry
What it is
Mild conjugated and unconjugated hyperbilirubinemia from combined absence of the OATP1B1 and OATP1B3 transporters (SLCO1B1 and SLCO1B3 genes), without liver pigment.
Who gets it
Very rare; its prevalence is unknown. It appears in childhood or adolescence.
Causes
- Digenic autosomal recessive inheritance: variants in both SLCO1B1 and SLCO1B3
Risk factors
- Family history
Pathophysiology
Some conjugated bilirubin leaves the hepatocyte into the blood and neighbouring hepatocytes take it back up via OATP1B1/1B3. Without these transporters conjugated bilirubin stays in the blood. The same transporters take up statins and methotrexate, whose toxicity may increase.
Symptoms and signs
- Mild jaundice, sometimes only in the sclerae
- Usually no other symptoms
Diagnosis
- Clinical
- Mild persistent jaundice, mainly conjugated, with no other liver disease.
- Tests
- Raised total bilirubin with a large direct fraction, normal transaminases and alkaline phosphatase; high total urinary coproporphyrins (2–5 times) with isomer I around 65 %; genetic testing.
- Imaging
- Hepatobiliary scintigraphy shows poor liver uptake; the gallbladder does fill. Ultrasound is normal.
Treatment
- Conservative
- No treatment is needed
- Follow-up
- Caution with drugs that rely on OATP1B1/1B3 (statins, methotrexate)
Complications
- Greater toxicity of some drugs
Prognosis
Excellent.
Test yourself
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Which transporters are missing in Rotor syndrome?
OATP1B1 and OATP1B3, which take bilirubin back up into the liver.
Does the liver have black pigment in Rotor syndrome?
No; dark pigment is characteristic of Dubin-Johnson.
Which drugs can be more toxic in Rotor syndrome?
Those the liver takes up through OATP1B1/1B3, such as statins and methotrexate.
Related conditions
Educational information, not medical advice. For any symptom, see a health professional.
Sources: Rotor syndrome: MedlinePlus Genetics (MedlinePlus, US National Library of Medicine, 2026); SLCO1B1 gene: MedlinePlus Genetics (MedlinePlus, US National Library of Medicine, 2026); Bilirubin blood test: MedlinePlus Medical Encyclopedia (MedlinePlus, US National Library of Medicine, 2026).
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