Rare Diseases Symptoms Automatic Extraction

[Bile formation and cholestasis].

[benign recurrent intrahepatic cholestasis]

Transport proteins in hepatocytes and bile duct epithelium mediate uptake and secretion of cholephilic compounds in the liver and are involved in bile formation. Many of these proteins have recently been cloned and characterized and appear to belong to large gene families. Apart from the liver these proteins are expressed in the blood-brain barrier, placenta, kidneys, lungs, intestine and seminiferous tubules. Prokaryotes and yeasts contain similar proteins. In cancer cells they are involved in multidrug resistance. Some genetic cholestatic liver diseases, including progressive familial intrahepatic cholestasis, Dubin-Johnson syndrome, benign recurrent intrahepatic cholestasis and intrahepatic cholestasis of pregnancy result from mutations in transport protein genes. These proteins also play a role in drug-induced liver disease and in primary biliary cirrhosis. Cyclosporine and oestradiol (glucuronide) for instance inhibit bile salt export protein (BSEP).

Diseases presenting "liver disease" symptom

  • benign recurrent intrahepatic cholestasis
  • carcinoma of the gallbladder
  • cholangiocarcinoma
  • cutaneous mastocytosis
  • erythropoietic protoporphyria
  • legionellosis
  • megacystis-microcolon-intestinal hypoperistalsis syndrome
  • neonatal adrenoleukodystrophy
  • papillon-lefèvre syndrome
  • primary effusion lymphoma
  • primary hyperoxaluria type 1
  • pyomyositis
  • typhoid
  • zellweger syndrome

This symptom has already been validated