Monogenic Liver Diseases

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

Research output: Chapter in Book/Report/Conference proceedingChapter

1 Scopus citations


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.

Original languageEnglish (US)
Title of host publicationPathobiology of Human Disease
Subtitle of host publicationA Dynamic Encyclopedia of Disease Mechanisms
PublisherElsevier Inc.
Number of pages9
ISBN (Electronic)9780123864567
ISBN (Print)9780123864574
StatePublished - Jan 1 2014


  • 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

  • General Medicine


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