Rotor syndrome

Also known as: Rotor-type hyperbilirubinemia

Benign conjugated hyperbilirubinemia without hepatic pigment.

Medical specialty: Gastroenterology
Subspecialty: Gastroenterology / Hepatology
Sex & age distribution: Male: affected; Female: affected, equal; Children: yes
Gene(s) involved: SLCO1B1, SLCO1B3

Etiology & mechanism

Complete deficiency of hepatic OATP1B1 and OATP1B3.

Gene(s) involved (2)

SLCO1B1SLCO1B3

Symptoms & signs (4)

asymptomatic carrier statedark urinefatiguemild jaundice

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.