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last update : 13/02/2008
Symbol DJS
Location 10q24.2
Name Dubin-Johnson syndrome
Other name(s) hyperbilirubinemia II
Corresponding gene ABCC2
Main clinical features
  • hyperbilirubinemia, deposition of melanin-like pigment in otherwise normal liver cells, in some cases hepatomegaly and abdominal pain, prolonged retention of sulfobromophthalein, increased excretion of coproporphyrin I, and lysosomal accumulation of black pigment in liver
  • urinary coproporphyrin I is a good indicator of the homozygote and heterozygote states in the Dubin-Johnson syndrome
  • Genetic determination autosomal recessive
    Function/system disorder digestive tract/liver and annex
    Type disease
    Gene product
    Name canalicular multispecific organic anion transporter (ABCC2)
    Remark(s) mutations involving one of the two ATP-binding cassettes (ABC) of the MRP2, have neonatal DJS