Amish, Mennonite, and Hutterite
Genetic Disorder Database

Cholestasis, progressive familial intrahepatic 1

Disorder
OMIM #: #211600  (Click to access OMIM database)
Disorder: Cholestasis, progressive familial intrahepatic 1 
Also known as: Byler disease 
Clinical
Phenotype: Onset in infancy, splenomegaly, steatorrhoea, cirrhosis, jaundice, hepatomegaly, growth deficiency 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
ReferencesCarlton VE, Knisely AS, Freimer NB. (1995) Mapping of a locus for progressive familial intrahepatic cholestasis (Byler disease) to 18q21-q22, the benign recurrent intrahepatic cholestasis region. Hum Mol Genet Jun;4(6):1049-53.
PubMed ID: 7655458
Clayton RJ, Iber FL, Ruebner BH, McKusick VA. (1969) Byler disease: fatal familial intrahepatic choleostasis in an Amish kindred. Am. J. Dis. Child. 117:112-124.
PubMed ID: 5762004
Knisely AS. (2000) Progressive familial intrahepatic cholestasis: a personal perspective. Pediatr. Dev. Pathol. 2000.
PubMed ID: 10679031
Morris AL, Bukauskas K, Sada RE, Shneider BL. (2015) Byler disease: early natural history. J Pediatr Gastroenterol Nutr Apr;60(4):460-6.
PubMed ID: 25825852
1   Amish  
Gene: ATP8B1
Base Change: G>T, at nucleotide 923
Amino Acid Change: gly 308 --> val
Last updated: 2015-04-23 

References
Bull L, van Eijk M, Pawlikowska L, DeYoung J, Juijn J, Liao M, Klomp L, Lomri N, Berger R, Scharschmidt B, Knisely A, Houwen R, and Freimer N. (1998) A gene encoding a P-type ATPase mutated in two forms of herediatry cholestasis. Nature Genetics 18: 219-224.
PubMed ID: 9500542 
Carlton VE, Knisely AS, Freimer NB. (1995) Mapping of a locus for progressive familial intrahepatic cholestasis (Byler disease) to 18q21-q22, the benign recurrent intrahepatic cholestasis region. Hum Mol Genet Jun;4(6):1049-53.
PubMed ID: 7655458 
Clayton RJ, Iber FL, Ruebner BH, McKusick VA. (1969) Byler disease: fatal familial intrahepatic choleostasis in an Amish kindred. Am. J. Dis. Child. 117:112-124.
PubMed ID: 5762004 
Knisely AS. (2000) Progressive familial intrahepatic cholestasis: a personal perspective. Pediatr. Dev. Pathol. 2000.
PubMed ID: 10679031 
Morris AL, Bukauskas K, Sada RE, Shneider BL. (2015) Byler disease: early natural history. J Pediatr Gastroenterol Nutr Apr;60(4):460-6.
PubMed ID: 25825852 

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