17q12 Kennisbankdeletion syndrome · static snapshot
Alle inhoud is verzameld van openbare internetbronnen en verwerkt met hulp van AI/LLM-software. Deze website is alleen informatief — trek er geen conclusies uit; controleer bij de originele bronnen. Volledige disclaimer
Gen–kenmerk-koppeling nieren en urineleider 273 ondersteunende bronnen vertrouwen 97% nieuwheid 75%

Het gen HNF1B komt in 158 artikelen samen met nieren en urineleider voor

In 158 onafhankelijke artikelen komt het gen HNF1B samen met nieren en urineleider voor. Associatiesterkte 0.66..

Hoe dit tot stand kwam

Gelijktijdig voorkomen is een *waarneming over de literatuur*, geen bewijs van oorzakelijkheid.

Gegenereerd 2026-11-13, laatst gewijzigd vandaag. Dedup-sleutel assoc:HNF1B:kidney. De engine controleert dit inzicht bij elke analyse opnieuw; als meer bronnen het eens zijn, stijgen zijn onderbouwing en vertrouwen en verschijnt het opnieuw als “nieuw”.

Bewijs (4 citaten)

…30; Accepted 2026 Oct 8; Collection date 2026 Oct. 1. Introduction Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited renal disorder and the leading genetic cause of chronic kidney disease (CKD) in adulthood. Based on comprehensive European registry and population sequenci…
…00 genes are associated with hereditary kidney disease, which may manifest as isolated kidney issues or as part of a syndrome that also includes extrarenal manifestations. The aim of this study was to identify genetic variants in a group of ten patients who presented with clinical signs suggestive of gen…
…ng author. Contributed equally. Abstract Kidney disease is increasingly linked to dysregulated lipid metabolism, yet the molecular mechanisms driving renal lipotoxicity remain poorly understood. This review elucidates the pivotal role of the hepatic nuclear factor-1 family (HNF-1α and HNF-1β) in renal li…
…e of genetics in the assessment of CKD cases, stressing the need for thorough family history evaluations, consideration of the age of CKD onset, extrarenal symptoms, and the inclusion of genetic testing in the diagnostic process. 36 This review examines the current and emerging role of LRS in the diagnos…

Ondersteunende documenten (45)

DocumentBronGepubliceerdGezienRelevantie
17q12 Recurrent Deletion Syndrome in Childhood pmc 2025-01-01 gisteren 1.00
Genetics of CAKUT pmc 2026-01-01 gisteren 1.00
Renal and Extrarenal Phenotypes in Patients With HNF1B Variants and... pmc 2024-01-01 gisteren 1.00
A Korean Family Presenting with Renal Cysts and Maturity-Onset Diab... pmc 2024-01-01 gisteren 1.00
HNF1B Transcription Factor: Key Regulator in Renal Physiology and P... pmc 2024-01-01 gisteren 1.00
A Case of Diabetes Mellitus Type MODY5 as a Feature of 17q12 Deleti... pmc 2024-01-01 gisteren 1.00
Recent advances in the molecular mechanisms of Mayer-Rokitansky-Küs... pubmed 2017-08-01 gisteren 0.85
School level of children carrying a HNF1B variant or a deletion. pubmed 2020-01-01 gisteren 1.00
The Clinical Characteristics and Gene Mutations of Maturity-Onset D... pubmed 2022-01-01 gisteren 1.00
Hepatocyte nuclear factor 1B deletion, but not intragenic mutation,... pubmed 2024-01-01 gisteren 1.00
Large Kidney Cysts in HNF1B Nephropathy Mimicking Autosomal Dominan... pubmed 2024-01-01 gisteren 1.00
Monogenic Etiologies of Kidney Cysts in the Pediatric Population: A... pubmed 2026-06-01 gisteren 1.00
HNF1B-MODY (MODY-5): a rare form of diabetes with multisystemic fea... pubmed 2026-01-01 gisteren 1.00
From Exome to Optical Mapping: Resolving a Complex 17q12 Rearrangem... pubmed 2026-10-09 gisteren 1.00
The genetic etiologies of bilateral renal agenesis pmc 2024-01-01 gisteren 1.00
Navigating Genetic Testing in Nephrology: Options and Decision-Maki... pmc 2024-01-01 gisteren 1.00
Exome analysis links kidney malformations to developmental disorder... pmc 2025-01-01 gisteren 1.00
Etiology and outcomes of fetal renal abnormalities in Southern Chin... pmc 2025-01-01 gisteren 1.00
Cognitive deterioration in patients undergoing hemodialysis: how va... pmc 2025-01-01 gisteren 1.00
Prenatal diagnosis of fetuses with renal abnormalities: a retrospec... pmc 2025-01-01 gisteren 1.00
A Case of Amyotrophic Lateral Sclerosis With Coexisting Maturity-on... pmc 2025-01-01 gisteren 1.00
MODY5 and 17q12 Microdeletion Syndrome: Phenotype Variability, Pren... pmc 2025-01-01 gisteren 1.00
Hepatocyte nuclear factor 1 in renal lipid metabolism: molecular me... pmc 2025-01-01 gisteren 1.00
ADVANCING GENETIC TESTING IN KIDNEY DISEASES: REPORT FROM A NATIONA... pmc 2024-01-01 gisteren 1.00
From mutation to symptoms: a multi-center study on HNF1B -related n... pmc 2025-01-01 gisteren 1.00
HNF1B variant without hyperglycaemia as a cause of isolated profoun... pubmed 2023-02-09 gisteren 1.00
The Genetic Landscape and Precision Medicine in Neonatal Diabetes M... pmc 2026-01-01 gisteren 1.00
A complex microdeletion 17q12 phenotype in a patient with recurrent... pubmed 2012-05-14 gisteren 1.00
Case Report: Nephrocalcinosis from pancreatic hypoplasia in HNF1B d... pmc 2026-01-01 gisteren 1.00
Pediatric Hepatocyte Nuclear Factor 1B ( HNF1B ) Disease: Diabetes ... pmc 2025-01-01 gisteren 1.00
The Importance of Molecular Testing in the Diagnosis of Genetic Syn... pmc 2026-01-01 gisteren 1.00
A novel inversion at 17q12 disrupting HNF1B gene in a patient with ... pmc 2026-01-01 gisteren 1.00
Recurrent, Nonrecurrent, and De Novo Membranous Nephropathy After K... pmc 2026-01-01 gisteren 1.00
Hepatic dysfunction, hyperuricemia, and multiple renal cysts in ado... pmc 2026-01-01 gisteren 1.00
Transient neonatal diabetes mellitus as an early diagnostic clue to... pmc 2026-01-01 gisteren 1.00
Functional validation of a non-canonical HNF1B splice-site variant in MODY5 pmc 2026-01-01 gisteren 1.00
Molecular impact of a novel HNF1B missense variant in childhood-ons... pmc 2026-01-01 gisteren 1.00
Long-Read Sequencing in CKD Diagnostics: Breaking Genomic Barriers ... pmc 2026-01-01 gisteren 1.00
HNF1B-MODY in the Norwegian MODY Registry and the Norwegian Childho... pmc 2026-01-01 gisteren 1.00
HNF1B-MODY (MODY-5): a rare form of diabetes with multisystemic fea... pmc 2026-01-01 gisteren 1.00
HNF1B -related disease: developmental origins, molecular mechanisms... pmc 2026-01-01 gisteren 1.00
Clinical Spectrum and Early Renal Functional Variability in a Natio... pmc 2026-01-01 gisteren 1.00
Precision Medicine in Pediatric Nephrology: From Shared Clinical Ph... pmc 2026-01-01 gisteren 1.00
Genetic Insights into Pediatric Polycystic Kidney Disease and Overl... pmc 2026-01-01 gisteren 1.00
PMC12903773 local_files - gisteren 1.00