17q12 Knowledge Basedeletion syndrome · static snapshot
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Gene–trait link Signs & symptoms 7 supporting sources confidence 97% novelty 53%

The gene ACACA comes up in 7 articles together with growth, gut and nutrition

In 7 independent articles, the gene ACACA comes up together with growth, gut and nutrition. Association strength 0.08..

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 yesterday. Dedup key assoc:ACACA: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 (4 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…

Supporting documents (38)

ArticleSourcePublishedSeenRelevance
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
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
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
Prenatal diagnosis of familial transmission of 17q12 microduplicati... pubmed 2016-12-01 yesterday 1.00
Recent advances in the molecular mechanisms of Mayer-Rokitansky-Küs... pubmed 2017-08-01 yesterday 0.85
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
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
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
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
Severe neonatal cholestasis in HNF1β deficiency: a case report and ... pmc 2025-01-01 yesterday 1.00
Diabetes associated with HNF1B: beyond Occam’s razor—A case report pmc 2025-01-01 yesterday 1.00
Persistent Tic Disorders Are Associated With 17q12 Duplications pmc 2025-01-01 yesterday 1.00
A Case of Amyotrophic Lateral Sclerosis With Coexisting Maturity-on... pmc 2025-01-01 yesterday 1.00
Unexpected genomic architecture in a sporadic case of C1-INH Heredi... pmc 2025-01-01 yesterday 1.00
Hepatocyte nuclear factor 1 in renal lipid metabolism: molecular me... pmc 2025-01-01 yesterday 1.00
Revealing Monogenic Diabetes: Clinical and Genetic Features of Pedi... pmc 2025-01-01 yesterday 1.00
Reversed cortico-medullary differentiation in kidneys on fetal magn... pmc 2025-01-01 yesterday 1.00
Identification of maturity-onset diabetes of the young through targ... pmc 2026-01-01 yesterday 1.00
The Importance of Molecular Testing in the Diagnosis of Genetic Syn... 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
Transient neonatal diabetes mellitus as an early diagnostic clue to... 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
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
Precision Medicine in Pediatric Nephrology: From Shared Clinical Ph... pmc 2026-01-01 yesterday 1.00
Case-based learning: a case of maturity-onset diabetes of the young... pubmed 2025-04-01 yesterday 1.00