PFIC Genetics

PFIC: An Autosomal Recessive Disease

Genetics can explain how characteristics such as height, hair color, or disease susceptibility can pass from parents to their offspring. This page contains a breakdown of the genetics of PFIC and it’s subtypes.



PFIC Subtypes: Single Gene Mutations


All subtypes of Progressive Familial Intrahepatic Cholestasis are cause by a single gene mutation. The different PFIC Subtypes are related to different genes. In addition, not all mutations that cause a specific subtype are the same. In fact, researchers have found quite a few different mutations in each of the genes that are involved in the different subtypes. The genes related to the different PFIC subtypes have different functions, but they have in common that their malfunction causes cholestatic liver disease. The attached table was developed and generously contributed by Dr. Laura Bull and Dr. Richard Thompson.

Genetics of PFIC: Current Status and Implications

By Laura Bull, Ph.D. Professor

Liver Center Laboratory, Department of Medicine, and Institute for Human Genetics

University of California San Francisco


The attached paper was written by Dr. Laura Bull, PhD to provide and overview of the current understanding of the genetics of PFIC. This paper was updated in 2018. She will be working on an update based on the most recent findings to be available in January, 2021.

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