Monogenic Liver Diseases

V. Sauer; N. Roy-Chowdhury; J. Roy-Chowdhury

doi:10.1016/B978-0-12-386456-7.04210-6

Monogenic Liver Diseases

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

Medicine

Research output: Chapter in Book/Report/Conference proceeding › Chapter

1 Scopus citations

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)
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	https://doi.org/10.1016/B978-0-12-386456-7.04210-6
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

Access to Document

10.1016/B978-0-12-386456-7.04210-6

Cite this

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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.",

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KW - Bile salt export

KW - Copper metaboLism

KW - Crigler-Najjar syndrome

KW - Gilbert syndrome

KW - Hemochromatosis

KW - Hepcidin

KW - Iron absorption

KW - PhosphoLipid secretion

KW - Progressive famiLial intrahepatic cholestasis

KW - UGT1A1

KW - Wilson's disease

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Monogenic Liver Diseases

Abstract

Keywords

ASJC Scopus subject areas

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