Monogenic Liver Diseases

V. Sauer, N. Roy-Chowdhury, Jayanta Roy-Chowdhury

Research output: Chapter in Book/Report/Conference proceedingChapter


Monogenic disorders are caused predominantly by a lesion of a single gene, although the phenotypic manifestation may depend to various extents on additional genetic variants in the same or other genes, epigenetic changes, and environmental factors. Although most individual monogenic diseases are rare, together, they represent a high disease load in the population. Monogenic Liver diseases begin with the abnormaLity of a specific Liver function and can then lead to either significant Liver injury with secondary injury of other organs or no significant Liver injury but injury of extrahepatic organs. In other cases, Liver and extrahepatic organs may be affected by a systemic disorder. Several examples of monogenic disorders are discussed in this section.



  • Bile salt export
  • BiLirubin
  • Copper metaboLism
  • Crigler-Najjar syndrome
  • Gilbert syndrome
  • Hemochromatosis
  • Hepcidin
  • Iron absorption
  • PhosphoLipid secretion
  • Progressive famiLial intrahepatic cholestasis
  • UGT1A1
  • Wilson's disease

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Monogenic Liver Diseases. / Sauer, V.; Roy-Chowdhury, N.; Roy-Chowdhury, Jayanta.

Pathobiology of Human Disease: A Dynamic Encyclopedia of Disease Mechanisms. Elsevier Inc., 2014. p. 1857-1865.

Research output: Chapter in Book/Report/Conference proceedingChapter