17q12 Knowledge Basedeletion syndrome · static snapshot
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Gene–trait link Signs & symptoms 19 supporting sources confidence 97% novelty 66%

LHX1 appears alongside growth, gut and nutrition in 11 sources

Across the collected corpus, the gene LHX1 co-occurs with growth, gut and nutrition in 11 independent documents (of 45 documents mentioning LHX1 and 65 mentioning growth, gut and nutrition). Association strength 0.17.

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:growth_nutrition. 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 (5 quotes)

…tion syndrome. Genet Med. 2023;25:100344. 24. Heung T, Conroy B, Malecki S, Ha J, Boot E, Corral M, et al. Adult height, 22q11.2 deletion extent, and short stature in 22q11.2 deletion syndrome. Genes. 2022;13:2038. 25. Hanssen R, Auwerx C, Joeloo M, Sadler MC, Estonian Biobank Research T, Henning E, et al. Chrom…
…scribed in imaginary case scenario 1 has several clinical features consistent with NDM. More specifically, he was born small for gestational age, had failure to thrive in the first postnatal weeks, and presented with diabetic ketoacidosis (DKA) before the age of 6 months. 3.1.2. Neonatal Diabetes Mellitus NDM is a v…
…er . Fold change values were used to construct a chart. 2.6 Fluorescence In Situ Hybridization ( FISH ) FISH was performed for Patient 3.1 due to her short stature using the commercial probes "Short Stature (Xp22)/SEX" for the SHOX gene (Xp22) and centromere‐specific DXZ1 (Kreatech‐Leica, Germany) on metaphase c…
…1B (n=1, 25.0%). Genetic diagnoses led to targeted therapies and identification of MODY cases among family members. The latter often have concomitant obesity-driven insulin resistance contributing to hyperglycemia. Conclusion Genetic testing for monogenic diabetes in a real-world setting identified disease…
…Accepted 2025 Sep 24; Issue date 2025. Introduction Amidst the escalating global burden of metabolic disorders, the pandemic prevalence of diabetes, obesity, and hypertension has substantially amplified the public health threat posed by kidney diseases(1, 2). Epidemiological data from the Global Burden of…

Supporting documents (52)

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
Clinical and Genetic Significance of Chromosomal Microarray Screeni... pmc 2026-01-01 yesterday 1.00
Clinical characteristics and etiologies of hypomagnesemia in childr... pmc 2026-01-01 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
Monogenic Defects of Beta Cell Function: From Clinical Suspicion to... pmc 2024-01-01 yesterday 0.45
A Case of Diabetes Mellitus Type MODY5 as a Feature of 17q12 Deleti... pmc 2024-01-01 yesterday 1.00
Recent advances in the molecular mechanisms of Mayer-Rokitansky-Küs... pubmed 2017-08-01 yesterday 0.85
Copy number variation and regions of homozygosity analysis in patie... pubmed 2018-01-01 yesterday 1.00
Maturity-onset diabetes of the young type 5, presenting as diabetic... pubmed 2022-05-01 yesterday 1.00
First genome-wide association study of esophageal atresia identifie... pubmed 2022-04-14 yesterday 1.00
The Clinical Characteristics and Gene Mutations of Maturity-Onset D... pubmed 2022-01-01 yesterday 1.00
Autism and duplication of 17q12q21.2 by array-CGH: a case report. pubmed 2023-01-01 yesterday 1.00
New case of syncytial giant-cell variant of hepatocellular carcinom... pubmed 2022-12-01 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
Delineation of the Genetic Architecture and Clinical Polymorphism o... pmc 2024-01-01 yesterday 1.00
Translational strategies to uncover the etiology of congenital anom... pmc 2024-01-01 yesterday 1.00
Decreased T helper 1 cell function underlies recurrent sinopulmonar... pmc 2025-01-01 yesterday 1.00
Type 1 Diabetes Polygenic Scores Improve Diagnostic Accuracy in Ped... 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
Obesity and metabolic syndrome in adults with a 22q11.2 microdeletion pmc 2024-01-01 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
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
Hepatocyte nuclear factor 1 in renal lipid metabolism: molecular me... pmc 2025-01-01 yesterday 1.00
Clinical and genetic aspects of Mayer-Rokitansky-Küster-Hauser syndrome. pubmed 2018-01-01 yesterday 1.00
Revealing Monogenic Diabetes: Clinical and Genetic Features of Pedi... pmc 2025-01-01 yesterday 1.00
Maternal DNA methylation signatures of gestational diabetes across ... pmc 2025-01-01 yesterday 0.76
Functional genomics analysis identifies loss of HNF1B function as a... pubmed 2023-03-06 yesterday 1.00
Genetic Analysis of Prenatal Renal Abnormalities in 17q12 Microdele... pmc 2025-01-01 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
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
Residual risk of clinically significant copy number variations in f... 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
Prenatal Ultrasound–Detected Structural Anomalies Associated with A... pmc 2026-01-01 yesterday 1.00
Phenome-wide analysis of copy number variants in 470,727 UK Biobank genomes pmc 2026-01-01 yesterday 1.00
A familial case report of 17q12 recurrent deletion syndrome: clinic... pmc 2026-01-01 yesterday 1.00
A phenome-wide association study of CNVs genotyped from genome sequ... pmc 2026-01-01 yesterday 1.00
Identification and Functional Analysis of a Novel NSD2 Missense Var... 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
Thyroxine binding globulin deficiency due to a novel HNF1B gene var... pmc 2026-01-01 yesterday 1.00
Precision Medicine in Pediatric Nephrology: From Shared Clinical Ph... pmc 2026-01-01 yesterday 1.00