ReviewCells2023
The Landscape of HNF1B Deficiency: A Syndrome Not Yet Fully Explored.
Review in Cells, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers.
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Who cites it
31 citing papers in PubMed, 33 citations in OpenAlex.
- Thyroxine binding globulin deficiency due to a novelJCEM case reports · 2026Article
- Clinical Spectrum and Early Renal Functional Variability in a Nationwide Greek Pediatric HNF1B Multicenter Cohort.Journal of clinical medicine · 2026Article
- HNF1B-MODY in the Norwegian MODY Registry and the Norwegian Childhood Diabetes Registry: Clinical Insights and Prevalence Informed by Genetic and Functional Evaluation.International journal of molecular sciences · 2026Article
- A case of giant renal angiomyolipoma and diabetic nephropathy with abnormalities in the genes TSC2 and HNF1B.CEN case reports · 2026Article
- Molecular diagnosis of maturity-onset diabetes of the young via whole-exome sequencing: a cohort study in Taizhou, China.Endocrine · 2026Article
- Rare Combination of PKD and precocious puberty in a HNF1B mutated little girl.Urology case reports · 2026Article
- HNF1B nephropathy: for which congenital renal anomalies is genetic analysis advisable?Pediatric nephrology (Berlin, Germany) · 2026Article
- The Genetic Landscape and Precision Medicine in Neonatal Diabetes Mellitus: From Molecular Mechanisms to Clinical Management.Current issues in molecular biology · 2026Review
- A familial case report of 17q12 recurrent deletion syndrome: clinical and molecular characterization.Frontiers in endocrinology · 2026Article
- HNF1B-MODY (MODY-5): a rare form of diabetes with multisystemic features-two case reports.Frontiers in endocrinology · 2026Article
- Editorial: The multifaceted role of cholangiocytes in neoplastic and non-neoplastic cholangiopathies: from bench to bedside.Frontiers in gastroenterology (Lausanne, Switzerland) · 2026Article
- GGPS1 Promoter Variant (rs3806394) Is Associated With Larger Simple Renal Cysts via Reduced GGPPS Expression.Human mutation · 2026Article
- 17q12 deletion syndrome presenting with chronic pancreatitis: a case report.Frontiers in medicine · 2026Article
- Multicystic dysplastic kidneys (MCDK) during prenatal life and postnatal outcome.Archives of gynecology and obstetrics · 2025Article
- Recapitulating Liver Embryology-Lessons to Be Learned for Liver Diseases.Journal of developmental biology · 2025Review
- A Novel Heterozygous and Pathogenic Variant of the HNF1B Gene Associated with Autosomal Dominant Tubulointerstitial Kidney Disease with a Broad Spectrum of Extrarenal Phenotypes.Internal medicine (Tokyo, Japan) · 2025Article
- Emerging phenotype: Maturity-onset diabetes of the young type 5 (MODY-5) - mechanisms, clinical spectrum, and unmet needs.Diabetology & metabolic syndrome · 2025Review
- Monogenic diabetes: An evidence-based clinical approach.World journal of diabetes · 2025Review
- Non-invasive screening for liver fibrosis by acoustic radiation force impulse in patients with ciliopathies.Scientific reports · 2025Article
- Exon Sequencing of HNF1β in Chinese Patients with Early-Onset Diabetes.Diabetes & metabolism journal · 2025Article
Corrections and comments
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Authors and funding
7 authors at 6 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The hepatocyte nuclear factor 1β (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.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.