" /> Dubin-johnson syndrome - CISMeF





Preferred Label : Dubin-johnson syndrome;

Symbol : DJS;

CISMeF acronym : DJS; HBLRDJ;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hyperbilirubinemia, dubin-johnson type; HBLRDJ; Hyperbilirubinemia II;

Description : Dubin-Johnson syndrome is an autosomal recessive disorder characterized by conjugated hyperbilirubinemia, an increase in the urinary excretion of coproporphyrin isomer I, deposition of melanin-like pigment in hepatocytes, and prolonged retention of sulfobromophthalein, but otherwise normal liver function (summary by Wada et al., 1998).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutations in the canalicular multispecific organic anion transporter gene (ABCC2, 601107.0001);

Laboratory abnormalities : Conjugated hyperbilirubinemia; Routine liver function tests normal; Normal serum bile acids; Characteristic urinary coproporphyrin pattern (mostly isomer I (80%) instead of isomer III); Normal total urinary coproporphyrin; Bromosulfophthalein test - secondary rise at 90 minutes;

Prefixed ID : #237500;

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26/07/2025


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