Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Rotor type hyperbilirubinemia

Rotor type hyperbilirubinemia is an autosomal recessive digenic disorder caused by mutations of the hepatic anion transporters SLCO1B1 and SLCO1B3.

Systematic

Genetic hyperbilirubinemia
Crigler-Najjar syndrome 1
Crigler-Najjar syndrome 2
Dubin-Johnson syndrome
Familial transient neonatal hyperbilirubinemia
Gilbert syndrome
Rotor type hyperbilirubinemia
SLCO1B1
SLCO1B3

References:

1.

van de Steeg E et al. (2012) Complete OATP1B1 and OATP1B3 deficiency causes human Rotor syndrome by interrupting conjugated bilirubin reuptake into the liver.

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2.

Wolkoff AW et al. (1976) Rotor's syndrome. A distinct inheritable pathophysiologic entity.

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3.

Wolpert E et al. (1977) Abnormal sulfobromophthalein metabolism in Rotor's syndrome and obligate heterozygotes.

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4.

Dollinger MR et al. (1967) Chronic familial hyperbilirubinemia. Hepatic defect(s) associated with occult hemolysis.

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5.

SCHIFF L et al. (1959) Familial nonhemolytic jaundice with conjugated bilirubin in the serum; a case study.

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6.

OMIM.ORG article

Omim 237450 [^]
Update: April 29, 2019