17q12 Knowledge Basedeletion syndrome · static snapshot
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Gene–trait link Signs & symptoms 44 supporting sources confidence 97% novelty 71%

The gene LHX1 comes up in 29 articles together with genital and Müllerian development

In 29 independent articles, the gene LHX1 comes up together with genital and Müllerian development. Association strength 0.24..

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:LHX1: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 (40)

ArticleSourcePublishedSeenRelevance
17q12 Recurrent Deletion Syndrome in Childhood pmc 2025-01-01 yesterday 1.00
HNF1β, LHX1, and GGNBP2 deletion contributed to kidney and reproduc... pmc 2024-01-01 yesterday 1.00
Prenatal diagnosis of 17q12 copy number variants in fetuses via chr... 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
Identification of Genetic Causes in Mayer-Rokitansky-Küster-Hauser ... pubmed 2022-06-27 yesterday 1.00
Autism and duplication of 17q12q21.2 by array-CGH: a case report. pubmed 2023-01-01 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
In-Depth Phenotyping of PIGW -Related Disease and Its Role in 17q12... pmc 2024-01-01 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
Decreased T helper 1 cell function underlies recurrent sinopulmonar... pmc 2025-01-01 yesterday 1.00
Case-based learning: a case of maturity-onset diabetes of the young... 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
Frame shift mutation of LHX1 is associated with Mayer-Rokitansky-Ku... pubmed 2012-09-01 yesterday 1.00
TBX6, LHX1 and copy number variations in the complex genetics of Mü... pubmed 2013-08-16 yesterday 1.00
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
Maternal DNA methylation signatures of gestational diabetes across ... pmc 2025-01-01 yesterday 0.76
Genetic Analysis of Prenatal Renal Abnormalities in 17q12 Microdele... pmc 2025-01-01 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
A novel inversion at 17q12 disrupting HNF1B gene in a patient with ... pmc 2026-01-01 yesterday 1.00
Chromosome 17q12 deletion, including HNF1B presenting with recurren... pmc 2026-01-01 yesterday 1.00
17q12 deletion syndrome presenting with chronic pancreatitis: a case report pmc 2026-01-01 yesterday 1.00
A familial case report of 17q12 recurrent deletion syndrome: clinic... 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
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