Mapping of a locus for progressive familial intrahepatic cholestasis (Byler disease) to 18q21-q22, the benign recurrent intrahepatic cholestasis region.

[benign recurrent intrahepatic cholestasis]

A locus for progressive familial intrahepatic cholestasis (PFIC ), also known as Byler disease , has been mapped to a 19 cM region of chromosome 18 by a search for shared segments , using patients from the Amish kindred in which the disorder was originally described . A similar liver disease , benign recurrent intrahepatic cholestasis (BRIC ), recently has been mapped to the same region , suggesting that these two diseases are caused by mutations in the same gene . Although PFIC and BRIC are clinically distinct diseases , episodic attacks of jaundice and pruritus , with elevated concentrations of bile acid in serum , are seen in both disorders . In PFIC patients , these attacks result in progressive liver damage and death . The clinical and biochemical features of PFIC and BRIC are suggestive of a defect in primary bile acid secretion . The biology of bile secretion is of great interest because of its vital importance in digestion of dietary fats as well as in secretion of xenobiotics and metabolic waste products . Cloning of the gene (or genes ) responsible for PFIC and BRIC will likely provide important insights into this pathway .

Diseases
Validation

Diseases presenting "mutations in the same gene" symptom

benign recurrent intrahepatic cholestasis

You can validate or delete this automatically detected symptom