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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 external link
Update: Aug. 14, 2020
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