MeSH Browser

MeSH Supplementary: Cholestasis, progressive familial intrahepatic 3
Unique ID: C535935
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C535935
Entry Term(s): Abcb4-Related Intrahepatic Cholestasis; Cholestasis, Progressive Familial Intrahepatic, 3; Cholestasis, Progressive Familial Intrahepatic, with Elevated Serum Gamma-Glutamyltransferase; Low gamma-GT Familial Intrahepatic Cholestasis; MDR3 Deficiency; PFIC3 Progressive familial intrahepatic cholestasis type 3; Progressive Familial Intrahepatic Cholestasis 3 (PFIC 3); Progressive Familial Intrahepatic Cholestasis 3 (PFIC3); Progressive familial intrahepatic cholestasis with elevated serum gamma-glutamyltransferase
Registry Number: 0
Heading Mapped to: *Cholestasis, Intrahepatic; ATP Binding Cassette Transporter, Subfamily B / *deficiency
Frequency: 62
Note: A hereditary autsomal recessive form of intrahepatic cholestasis characterized by childhood onset of CHOLESTASIS that progresses to hepatic FIBROSIS, cirrhosis, and END-STAGE LIVER DISEASE before adulthood. Mutations in the ABCB4 gene have been identified. OMIM: 602347
Date of Entry: 2010/08/25
Revision Date: 2019/06/18

Cholestasis, progressive familial intrahepatic 3 MeSH Supplementary Concept Data 2024