IllnessRotor syndrome, differential diagnosis

NGS +

Rotor syndrome is a very rare, relatively mild disorder characterized by hyperbilirubinemia. Intermittend icterus usually occurs shortly after birth or in childhood and may come and go; conjunctival icterus is often the only symptom. Rotor syndrome patients have high serum levels of both unconjugated and conjugated bilirubin, with the majority being conjugated. SLCO1B1 and SLCO1B3 gene mutations that cause Rotor syndrome result in abnormally short, nonfunctional, or absent transport proteins. Without the function of either protein, bilirubin is less efficiently absorbed and excreted in the liver. This disorder is inherited in an autosomal recessive manner. An affected individual must have biallelic mutations in both SLCO1B1 and SLCO1B3 genes. The DNA-diagnostic yield is not known.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK114805/

• Alias: Rotor type hyperbilirubinemia
• Bilirubin, serum level of, QTL1 (UGT1A1)
• Crigler-Najjar syndrome, type I + II (UGT1A1)
• Dubin-Johnson syndrome (ABCC2)
• Gilbert syndrome (UGT1A1)
• Hyperbilirubinemia, Rotor type, digenic (SLCO1B1, SLCO1B3)
• Hyperbilirubinemia, familial transient neonatal (UGT1A1)