Rare Diseases Symptoms Automatic Extraction

Autosomal-recessive inheritance of benign recurrent intrahepatic cholestasis.

[benign recurrent intrahepatic cholestasis]

Benign recurrent intrahepatic cholestasis (BRIC) is a rare disorder characterized by recurrent episodes of cholestasis without permanent liver damage. Familial and sporadic cases have been described. Based on existing evidence, both autosomal-recessive and autosomal-dominant inheritance have been considered. We describe a large Dutch pedigree with 4 patients, strongly suggesting autosomal-recessive inheritance.

Diseases presenting "recurrent episodes" symptom

  • acute rheumatic fever
  • adrenomyeloneuropathy
  • benign recurrent intrahepatic cholestasis
  • child syndrome
  • cholangiocarcinoma
  • cystinuria
  • familial mediterranean fever
  • hydrocephalus with stenosis of the aqueduct of sylvius
  • kabuki syndrome
  • neuralgic amyotrophy
  • pyruvate dehydrogenase deficiency
  • systemic capillary leak syndrome
  • triple a syndrome

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