Locus heterogeneity in progressive familial intrahepatic cholestasis.

[benign recurrent intrahepatic cholestasis]

Progressive familial intrahepatic cholestasis (PFIC or Byler disease ) is a rare autosomal recessive form of severe and fatal cholestatic liver disease . A locus for PFIC has recently been mapped to chromosome 18 q 21 -q 22 in the original Byler pedigree . This region harbours the locus for a related phenotype , benign recurrent intrahepatic cholestasis (BRIC ), suggesting that these traits are allelic . Linkage analysis was undertaken in five consanguineous PFIC pedigrees from Saudi Arabia using marker loci (D 18 S 69 , D 18 S 41 , D 18 S 64 , D 18 S 38 , D 18 S 42 , D 18 S 55 , D 18 S 68 , and D 18 S 61 ) which span the Byler disease /BRIC region on 18 q 21 -q 22 . In this family set the disease locus was excluded from this region , showing that locus heterogeneity exists for the PFIC phenotype .

Diseases
Validation

Diseases presenting "intrahepatic cholestasis" symptom

benign recurrent intrahepatic cholestasis

zellweger syndrome

This symptom has already been validated