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Rotor syndrome

Orpha number ORPHA3111
Prevalence of rare diseases Unknown
Inheritance
  • Autosomal recessive
Age of onset Variable
ICD 10 code
  • E80.6
MIM number
Synonym(s) Hyperbilirubinemia, Rotor type

Summary

Rotor's syndrome causes jaundice with conjugated (50%) and unconjugated (50%) bilirubin. Other hepatic tests are normal. Histological examination of a liver biopsy does not reveal any pigmentation in the hepatocytes. The molecular defect remains unknown. It may consist in a defective bining and storage protein for bilirubin in liver cells. The disorder is completely benign and does not require any treatment. *Author: Pr. S. Erlinger (Sept 2000) *

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