17q12 Knowledge Basedeletion syndrome · static snapshot
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Gene–trait link Signs & symptoms 104 supporting sources confidence 97% novelty 75%

HNF1B appears alongside genital and müllerian development in 64 sources

Across the collected corpus, the gene HNF1B co-occurs with genital and müllerian development in 64 independent documents (of 177 documents mentioning HNF1B and 121 mentioning genital and müllerian development). Association strength 0.36.

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:mullerian_gu. 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 (4 quotes)

…no. 3 (2015): 769-774.e2. 33. Philibert P., Biason‐Lauber A., Gueorguieva I., et al., "Molecular Analysis of WNT4 Gene in Four Adolescent Girls With Mullerian Duct Abnormality and Hyperandrogenism (Atypical Mayer‐Rokitansky‐Küster‐Hauser Syndrome)," Fertility and Sterility 95, no. 8 (2011): 2683-2686. 34. C…
ABSTRACT Müllerian anomalies are a collection of heterogeneous anatomical disorders of the female genital tract that present with complex clinical features of which sev…
…ML, Massin N, Martinerie L, Picard JY, Rey R, Lombès M et al. Lack of androgen receptor expression in Sertoli cells accounts for the absence of anti-Mullerian hormone repression during early human testis development. J Clin Endocrinol Metab 2009;94:1818-1825. Boulet AM, Capecchi MR. Signaling by FGF4 and FG…
…ser (MRKH) syndrome refers to a syndrome of genital malformation with normal development of female external genitalia but abnormal development of the Müllerian duct, 1 characterized by congenital dysplasia of the uterus and upper part of the vagina (2/3), but normal development of secondary sexual characteri…

Supporting documents (50)

DocumentSourcePublishedSeenRelevance
17q12 Recurrent Deletion Syndrome in Childhood pmc 2025-01-01 yesterday 1.00
Renal and Extrarenal Phenotypes in Patients With HNF1B Variants and... pmc 2024-01-01 yesterday 1.00
HNF1β, LHX1, and GGNBP2 deletion contributed to kidney and reproduc... 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
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
Copy number variation and regions of homozygosity analysis in patie... pubmed 2018-01-01 yesterday 1.00
School level of children carrying a HNF1B variant or a deletion. pubmed 2020-01-01 yesterday 1.00
The Clinical Characteristics and Gene Mutations of Maturity-Onset D... pubmed 2022-01-01 yesterday 1.00
Identification of Genetic Causes in Mayer-Rokitansky-Küster-Hauser ... pubmed 2022-06-27 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
Genetics of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: advance... 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
The genetic etiologies of bilateral renal agenesis pmc 2024-01-01 yesterday 1.00
Identification and functional analysis of a novel SMARCC2 splicing ... pmc 2025-01-01 yesterday 1.00
Genetic Predisposition in Müllerian Malformations: A Case Report pmc 2025-01-01 yesterday 1.00
Multi- and Transgenerational Histological and Transcriptomic Outcom... pmc 2025-01-01 yesterday 0.97
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
Prevalence and phenotypic findings of pathogenic or likely pathogen... pmc 2025-01-01 yesterday 1.00
Building a human pluripotent stem cell-based gonadal niche: improvi... pmc 2025-01-01 yesterday 0.97
The Genetic Landscape of Müllerian Duct Anomalies: A Comprehensive Review pmc 2025-01-01 yesterday 1.00
Clinical and genetic aspects of Mayer-Rokitansky-Küster-Hauser syndrome. pubmed 2018-01-01 yesterday 1.00
Mayer–Rokitansky–Küster–Hauser syndrome with inguinal hernia, left ... 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
Transition of patients with hereditary nephropathies from paediatri... pmc 2026-01-01 yesterday 1.00
A complex microdeletion 17q12 phenotype in a patient with recurrent... pubmed 2012-05-14 yesterday 1.00
Case Report: Nephrocalcinosis from pancreatic hypoplasia in HNF1B d... pmc 2026-01-01 yesterday 1.00
Genetic and embryonic transcriptome analyses reveal the molecular a... pmc 2025-01-01 yesterday 1.00
Unraveling the Genetic Mysteries of Müllerian Anomalies: Research A... 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
Chromosome 17q12 deletion, including HNF1B presenting with recurren... 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
HNF1B-MODY in the Norwegian MODY Registry and the Norwegian Childho... 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
Clinical Spectrum and Early Renal Functional Variability in a Natio... pmc 2026-01-01 yesterday 1.00
Genetic Insights into Pediatric Polycystic Kidney Disease and Overl... pmc 2026-01-01 yesterday 1.00
Mayer-Rokitansky-Küster-Hauser syndrome type II associated with con... pmc 2026-01-01 yesterday 1.00
Heterozygous ZNHIT3 variants within the 17q12 recurrent deletion re... pubmed 2024-08-01 yesterday 1.00
PMC12903773 local_files - yesterday 1.00