MeSH Browser

MeSH Supplementary: Cholestasis, progressive familial intrahepatic 1
Unique ID: C535933
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C535933
Entry Term(s): Byler disease; Byler's disease; Cholestasis, Benign Recurrent Intrahepatic, 1; Cholestasis, Progressive Familial Intrahepatic, 1; Cholestasis, benign recurrent intrahepatic 1; Cholestasis, fatal intrahepatic; FIC1 deficiency; PFIC1 Progressive familial intrahepatic cholestasis type 1; Progressive familial intrahepatic cholestasis; Progressive familial intrahepatic cholestasis type 1 (PFIC 1); Progressive familial intrahepatic cholestasis type 1 (PFIC1); Summerskill syndrome
Registry Number: 0
Heading Mapped to: *Cholestasis, Intrahepatic
Frequency: 167
Note: A heterogeneous group of hereditary liver disorders characterized by the early onset of CHOLESTASIS that progresses to hepatic FIBROSIS; LIVER CIRRHOSIS, and END-STAGE LIVER DISEASE before adulthood. Germline mutations in the ATP8B1 gene have been identified. OMIM: 211600
Date of Entry: 2010/08/25
Revision Date: 2019/06/18

Cholestasis, progressive familial intrahepatic 1 MeSH Supplementary Concept Data 2024