Abstract
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 language | English (US) |
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Title of host publication | Pathobiology of Human Disease |
Subtitle of host publication | A Dynamic Encyclopedia of Disease Mechanisms |
Publisher | Elsevier Inc. |
Pages | 1857-1865 |
Number of pages | 9 |
ISBN (Electronic) | 9780123864567 |
ISBN (Print) | 9780123864574 |
DOIs | |
State | Published - Jan 1 2014 |
Keywords
- BiLirubin
- Bile salt export
- 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