17q12 Knowledge Basedeletion syndrome · static snapshot
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Gene–trait link kidney and urinary tract 243 supporting sources confidence 97% novelty 75%

HNF1B appears alongside diabetes and metabolism in 135 sources

Across the collected corpus, the gene HNF1B co-occurs with diabetes and metabolism in 135 independent documents (of 177 documents mentioning HNF1B and 197 mentioning diabetes and metabolism). Association strength 0.69.

How this was derived

Co-occurrence is an *observation about the literature*, not proof of causation: it says these topics are discussed together in the sources we hold.

Generated 2026-11-13, last changed today. Dedup key assoc:HNF1B:diabetes_metabolic. The engine re-checks this insight on every analysis run; if more sources agree, its corroboration and confidence go up and it reappears as “new”.

Evidence (6 quotes)

Corresponding author. Abstract Introduction Maturity-onset diabetes of the young (MODY) is a rare monogenic form of diabetes characterized by impaired insulin secretion and genetic and clinical heterogeneity. Accurate…
Corresponding author. Contributed equally. Abstract Background Beta-cell monogenic forms of diabetes have strong support for precision medicine. We systematically analyzed evidence for precision treatments for GCK-related hyperglycemia, HNF1A-, HNF4A…
Monogenic defects of beta cell function refer to a group of rare disorders that are characterized by early-onset diabetes mellitus due to a single gene mutation affecting insulin secretion. It accounts for up to 5% of all pediatric diabetes cases and includes transient o…
…xlx@zju.edu.cn (G.D.); chtang@zju.edu.cn (C.T.); Tel./Fax: +86-571-8706-1007 (C.T.) These authors contributed equally to this work. Abstract Neonatal Diabetes Mellitus (NDM) is a rare, heterogeneous monogenic disorder typically presenting within the first six months of life. Unlike type 1 or type 2 diabetes…
Academic Editor: Andrea Scaramuzza Objective Maturity-onset diabetes of the young (MODY) represents a genetically and clinically heterogeneous form of monogenic diabetes caused by defects in pancreatic β-cell function.…
…nding author. Abstract Context: Mutations in hepatocyte nuclear factor 1B ( HNF1B ) are rare but they are known to cause structural renal disease and diabetes mellitus. There is limited data on pediatric HNF1B disease. Objective: To analyze the clinical characteristics of HNF1B ‐related disease in a cohort…

Supporting documents (46)

DocumentSourcePublishedSeenRelevance
A Case of Amyotrophic Lateral Sclerosis With Coexisting Maturity-on... pubmed 2025-11-01 yesterday 1.00
17q12 Recurrent Deletion Syndrome in Childhood pmc 2025-01-01 yesterday 1.00
Atypical presentation of HNF1β gene mutation mimicking type 2 diabe... pmc 2025-01-01 yesterday 1.00
Precision treatment of beta-cell monogenic diabetes: a systematic review pmc 2024-01-01 yesterday 1.00
Renal and Extrarenal Phenotypes in Patients With HNF1B Variants and... pmc 2024-01-01 yesterday 1.00
A Korean Family Presenting with Renal Cysts and Maturity-Onset Diab... pmc 2024-01-01 yesterday 1.00
Monogenic Defects of Beta Cell Function: From Clinical Suspicion to... pmc 2024-01-01 yesterday 0.45
HNF1B Transcription Factor: Key Regulator in Renal Physiology and P... pmc 2024-01-01 yesterday 1.00
A Case of Diabetes Mellitus Type MODY5 as a Feature of 17q12 Deleti... pmc 2024-01-01 yesterday 1.00
School level of children carrying a HNF1B variant or a deletion. pubmed 2020-01-01 yesterday 1.00
Maturity-onset diabetes of the young type 5, presenting as diabetic... pubmed 2022-05-01 yesterday 1.00
HNF1B-MODY Masquerading as Type 1 Diabetes: A Pitfall in the Etiolo... pubmed 2022-08-01 yesterday 1.00
The Clinical Characteristics and Gene Mutations of Maturity-Onset D... pubmed 2022-01-01 yesterday 1.00
Hepatocyte nuclear factor 1B deletion, but not intragenic mutation,... pubmed 2024-01-01 yesterday 1.00
Large Kidney Cysts in HNF1B Nephropathy Mimicking Autosomal Dominan... pubmed 2024-01-01 yesterday 1.00
Semaglutide as a potential therapeutic alternative for HNF1B-MODY: ... pubmed 2024-01-01 yesterday 1.00
HNF1B-MODY (MODY-5): a rare form of diabetes with multisystemic fea... pubmed 2026-01-01 yesterday 1.00
From Exome to Optical Mapping: Resolving a Complex 17q12 Rearrangem... pubmed 2026-10-09 yesterday 1.00
Type 1 Diabetes Polygenic Scores Improve Diagnostic Accuracy in Ped... pmc 2025-01-01 yesterday 1.00
A Case of Amyotrophic Lateral Sclerosis With Coexisting Maturity-on... pmc 2025-01-01 yesterday 1.00
MODY5 and 17q12 Microdeletion Syndrome: Phenotype Variability, Pren... pmc 2025-01-01 yesterday 1.00
HNF1β Gene Mutation Leading to a MODY5 With Renal Dysplasia: A Case Report pmc 2025-01-01 yesterday 1.00
Revealing Monogenic Diabetes: Clinical and Genetic Features of Pedi... pmc 2025-01-01 yesterday 1.00
From mutation to symptoms: a multi-center study on HNF1B -related n... pmc 2025-01-01 yesterday 1.00
HNF1B variant without hyperglycaemia as a cause of isolated profoun... pubmed 2023-02-09 yesterday 1.00
The Genetic Landscape and Precision Medicine in Neonatal Diabetes M... pmc 2026-01-01 yesterday 1.00
A complex microdeletion 17q12 phenotype in a patient with recurrent... pubmed 2012-05-14 yesterday 1.00
Identification of maturity-onset diabetes of the young through targ... pmc 2026-01-01 yesterday 1.00
Case Report: Nephrocalcinosis from pancreatic hypoplasia in HNF1B d... pmc 2026-01-01 yesterday 1.00
Pediatric Hepatocyte Nuclear Factor 1B ( HNF1B ) Disease: Diabetes ... pmc 2025-01-01 yesterday 1.00
A novel inversion at 17q12 disrupting HNF1B gene in a patient with ... pmc 2026-01-01 yesterday 1.00
Hepatic dysfunction, hyperuricemia, and multiple renal cysts in ado... pmc 2026-01-01 yesterday 1.00
Transient neonatal diabetes mellitus as an early diagnostic clue to... pmc 2026-01-01 yesterday 1.00
Functional validation of a non-canonical HNF1B splice-site variant in MODY5 pmc 2026-01-01 yesterday 1.00
17q12 deletion syndrome presenting with chronic pancreatitis: a case report pmc 2026-01-01 yesterday 1.00
Molecular impact of a novel HNF1B missense variant in childhood-ons... pmc 2026-01-01 yesterday 1.00
Type 1 Diabetes Polygenic Scores Improve Diagnostic Accuracy in Ped... pmc 2026-01-01 yesterday 1.00
HNF1B-MODY in the Norwegian MODY Registry and the Norwegian Childho... pmc 2026-01-01 yesterday 1.00
Insights from maturity-onset diabetes of the young into impaired in... pmc 2026-01-01 yesterday 1.00
HNF1B-MODY (MODY-5): a rare form of diabetes with multisystemic fea... pmc 2026-01-01 yesterday 1.00
HNF1B -related disease: developmental origins, molecular mechanisms... pmc 2026-01-01 yesterday 1.00
Treatment Options for Patients with Maturity-Onset Diabetes of the ... pmc 2026-01-01 yesterday 1.00
Clinical Spectrum and Early Renal Functional Variability in a Natio... pmc 2026-01-01 yesterday 1.00
Syndromic diabetes and hypergonadotropic hypogonadism in a boy with... pmc 2026-01-01 yesterday 1.00
Genetic Insights into Pediatric Polycystic Kidney Disease and Overl... pmc 2026-01-01 yesterday 1.00
PMC12903773 local_files - yesterday 1.00