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
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 cholestasisillustration
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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