Byler disease

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]

Byler disease

(bil'er)
An inherited disorder with a defect on chromosome 18 in which infants develop cholestatic jaundice and eventually cirrhosis. A high incidence of retinitis pigmentosa is associated with this disease, and mental retardation is frequently seen in affected children. Death from liver disease occurs by adolescence. Synonym: progressive familial intrahepatic cholestasis
illustration

Byler,

Amish kindred in the U.S.
Byler disease - genetic trait in Amish children that causes fatal intrahepatic arrest of bile flow.
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.
Progressive familial intrahepatic cholestasis (Byler disease): current genetics and therapy Klin Padiatr 2000; 212 : 64-70.