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Review

A Mechanistic Framework of Genetic Liver Diseases: From Developmental Defects to Functional Disorders

by
Angelo Corso Faini
1,2,*,
Alberto Calleri
3,
Michele Pinon
4,
Cristina Chiadò
4,
Pier Luigi Calvo
4,
Tiziana Vaisitti
1,2 and
Silvia Deaglio
1,2
1
Immunogenetics and Transplant Biology Service, AOU Città della Salute e della Scienza Hospital, 10126 Turin, Italy
2
Department of Medical Sciences, University of Turin, 10124 Turin, Italy
3
Division of Gastroenterology and Hepatology, AOU Città della Salute e della Scienza Hospital, 10126 Turin, Italy
4
Pediatric Gastroenterology Division, Regina Margherita Children’s Hospital, 10126 Turin, Italy
*
Author to whom correspondence should be addressed.
Livers 2026, 6(2), 29; https://doi.org/10.3390/livers6020029
Submission received: 5 December 2025 / Revised: 29 January 2026 / Accepted: 27 March 2026 / Published: 13 April 2026
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Abstract

Genetic liver diseases encompass a heterogeneous group of conditions that disrupt hepatic development, structure, or function. Advances in high-throughput sequencing have revealed the molecular basis of many disorders previously defined only by clinical or biochemical features, transforming diagnostic and therapeutic approaches. This review proposes a mechanistic framework that distinguishes diseases arising from developmental abnormalities from those caused by functional impairments in hepatocellular or biliary physiology. It outlines how defects in transporters, enzymes, signaling pathways, intracellular trafficking, and mitochondrial function converge to produce diverse hepatic phenotypes. Moreover, translational aspects are discussed such as how the growing integration of genetic testing into clinical practice enables precise diagnosis, informs prognosis and therapy, and refines disease classification. Finally, the review discusses future directions in the field, emphasizing the role of multi-omic approaches, organoid modeling, and data sharing in elucidating unresolved pathogenic mechanisms and advancing precision hepatology.
Keywords: liver; genetics; genetic testing; hepatology; hepatopathy; congenital disorders liver; genetics; genetic testing; hepatology; hepatopathy; congenital disorders
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MDPI and ACS Style

Faini, A.C.; Calleri, A.; Pinon, M.; Chiadò, C.; Calvo, P.L.; Vaisitti, T.; Deaglio, S. A Mechanistic Framework of Genetic Liver Diseases: From Developmental Defects to Functional Disorders. Livers 2026, 6, 29. https://doi.org/10.3390/livers6020029

AMA Style

Faini AC, Calleri A, Pinon M, Chiadò C, Calvo PL, Vaisitti T, Deaglio S. A Mechanistic Framework of Genetic Liver Diseases: From Developmental Defects to Functional Disorders. Livers. 2026; 6(2):29. https://doi.org/10.3390/livers6020029

Chicago/Turabian Style

Faini, Angelo Corso, Alberto Calleri, Michele Pinon, Cristina Chiadò, Pier Luigi Calvo, Tiziana Vaisitti, and Silvia Deaglio. 2026. "A Mechanistic Framework of Genetic Liver Diseases: From Developmental Defects to Functional Disorders" Livers 6, no. 2: 29. https://doi.org/10.3390/livers6020029

APA Style

Faini, A. C., Calleri, A., Pinon, M., Chiadò, C., Calvo, P. L., Vaisitti, T., & Deaglio, S. (2026). A Mechanistic Framework of Genetic Liver Diseases: From Developmental Defects to Functional Disorders. Livers, 6(2), 29. https://doi.org/10.3390/livers6020029

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