By·ler dis·ease

(bī'lĕr),

progressive intrahepatic cholestasis, with early onset of loose, foul-smelling stools, jaundice, hepatosplenomegaly, dwarfism, and occasionally death; due to an error in conjugated bile salt metabolism; autosomal recessive inheritance, caused by mutation in the familial intrahepatic cholestasis 1 gene (FIC1) on chromosome 18q.

[Byler, an Amish kindred]

Farlex Partner Medical Dictionary © Farlex 2012

Byler,

Amish kindred in the U.S.

Byler disease - genetic trait in Amish children that causes fatal intrahepatic arrest of bile flow.

Medical Eponyms © Farlex 2012

Mentioned in

References in periodicals archive

Mckusick, "Byler Disease: Fatal Familial Intrahepatic Cholestasis in an Amish Kindred," American Journal of Diseases of Children, vol.

Stricker et al., "Genetic and morphological findings in progressive familial intrahepatic cholestasis (Byler disease [PFIC-1] and Byler syndrome): Evidence for heterogeneity," Hepatology, vol.

New Insights in Genetic Cholestasis: From Molecular Mechanisms to Clinical Implications

Progressive familial intrahepatic cholestasis (Byler disease): current genetics and therapy Klin Padiatr 2000; 212 : 64-70.

Cholestasis in newborn and infancy period/Yenidogan ve sut cocuklugunda kolestaz

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