{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,20]],"date-time":"2026-10-20T18:47:55Z","timestamp":1792522075592,"version":"4.5.0"},"reference-count":135,"publisher":"MDPI AG","issue":"2","license":[{"start":{"date-parts":[[2023,1,13]],"date-time":"2023-01-13T00:00:00Z","timestamp":1673568000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cells"],"abstract":"<jats:p>The hepatocyte nuclear factor 1\u03b2 (HNF1B) gene is involved in the development of specialized epithelia of several organs during the early and late phases of embryogenesis, performing its function mainly by regulating the cell cycle and apoptosis pathways. The first pathogenic variant of HNF1B (namely, R177X) was reported in 1997 and is associated with the maturity-onset diabetes of the young. Since then, more than 230 different HNF1B variants have been reported, revealing a multifaceted syndrome with complex and heterogenous genetic, pathologic, and clinical profiles, mainly affecting the pediatric population. The pancreas and kidneys are the most frequently affected organs, resulting in diabetes, renal cysts, and a decrease in renal function, leading, in 2001, to the definition of HNF1B deficiency syndrome, including renal cysts and diabetes. However, several other organs and systems have since emerged as being affected by HNF1B defect, while diabetes and renal cysts are not always present. Especially, liver involvement has generally been overlooked but recently emerged as particularly relevant (mostly showing chronically elevated liver enzymes) and with a putative relation with tumor development, thus requiring a more granular analysis. Nowadays, HNF1B-associated disease has been recognized as a clinical entity with a broader and more variable multisystem phenotype, but the reasons for the phenotypic heterogeneity are still poorly understood. In this review, we aimed to describe the multifaceted nature of HNF1B deficiency in the pediatric and adult populations: we analyzed the genetic, phenotypic, and clinical features of this complex and misdiagnosed syndrome, covering the most frequent, unusual, and recently identified traits.<\/jats:p>","DOI":"10.3390\/cells12020307","type":"journal-article","created":{"date-parts":[[2023,1,13]],"date-time":"2023-01-13T04:30:20Z","timestamp":1673584220000},"page":"307","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":48,"title":["The Landscape of HNF1B Deficiency: A Syndrome Not Yet Fully Explored"],"prefix":"10.3390","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7826-002X","authenticated-orcid":false,"given":"Alessandro","family":"Gambella","sequence":"first","affiliation":[{"name":"Department of Medical Sciences, University of Turin, 10126 Turin, Italy"},{"name":"Division of Liver and Transplant Pathology, University of Pittsburgh, Pittsburgh, PA 15232, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9459-9741","authenticated-orcid":false,"given":"Silvia","family":"Kalantari","sequence":"additional","affiliation":[{"name":"Department of Medical Sciences, University of Turin, 10126 Turin, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0899-7613","authenticated-orcid":false,"given":"Massimiliano","family":"Cadamuro","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine, University of Padova, 35121 Padua, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9423-9255","authenticated-orcid":false,"given":"Marco","family":"Quaglia","sequence":"additional","affiliation":[{"name":"Department of Translational Medicine, University of Piemonte Orientale, 28100 Novara, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1528-0012","authenticated-orcid":false,"given":"Maurizio","family":"Delvecchio","sequence":"additional","affiliation":[{"name":"Metabolic Disease and Genetics Unit, Giovanni XXIII Children\u2019s Hospital, AOU Policlinico di Bari, 70124 Bari, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8538-6317","authenticated-orcid":false,"given":"Luca","family":"Fabris","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine, University of Padova, 35121 Padua, Italy"},{"name":"Liver Center, Digestive Disease Section, Department of Internal Medicine, Yale University, New Haven, CT 06510, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michele","family":"Pinon","sequence":"additional","affiliation":[{"name":"Pediatric Gastroenterology Unit, Regina Margherita Children\u2019s Hospital, AOU Citt\u00e0 della Salute e della Scienza di Torino, 10126 Turin, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2023,1,13]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1033","DOI":"10.1016\/j.jhep.2017.11.026","article-title":"The molecular functions of hepatocyte nuclear factors\u2014In and beyond the liver","volume":"68","author":"Lau","year":"2018","journal-title":"J. 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