Progressive familial intrahepatic cholestasis-13 (PFIC13) is an autosomal recessive ciliopathy characterized by onset of progressive liver dysfunction due to intrahepatic and biliary cholestasis. Most patients present in infancy or the first years of life, although some may present later. Most affected individuals also develop progressive chronic renal failure often associated with unilateral renal agenesis and glomerulosclerosis. Early death may rarely occur; liver transplant is usually required. The disorder is associated with defects in cilia function (Maddirevula et al., 2024).
For a discussion of genetic heterogeneity of progressive familial intrahepatic cholestasis, see PFIC1 (211600). [from OMIM]
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