Rotor's syndrome

Rotor syndrome

An autosomal recessive (OMIM:237450) form of primary conjugated hyperbilirubinaemia characterised by mild jaundice without haemolysis that begins shortly after birth or in childhood. Affected individuals have delayed plasma clearance of the unconjugated anionic dye bromsulphthalein and high urinary excretion of coproporphyrin I. Hepatic pigmentation is normal.

Molecular pathology
Defects in SLCO1B1 and SLCO1B3, which encode organic anion transporters, cause Rotor syndrome.
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