Byler disease
| Disorder | |
|---|---|
| OMIM #: | #211600 (Click to access OMIM database) |
| Disorder: | Byler disease |
| Also known as: | Cholestasis, progressive familial intrahepatic 1 PFIC1 |
| Clinical | |
| Phenotype: | Onset in infancy; short stature, failure to thrive, malabsorption, splenomegaly, steatorrhoea, cirrhosis, jaundice, hyperbilirubinemia, hepatomegaly, intrahepatic cholestasis, intracanalicular cholestasis, other liver irregularities |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal recessive |
| 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 3(2):113-25. 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: | 2022-12-07 |
| 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 hereditary cholestasis. Nat Genet 18(3):219-24. 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 3(2):113-25. 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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