17q12 Knowledge Basedeletion syndrome · static snapshot
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Gene–trait link Signs & symptoms 9 supporting sources confidence 97% novelty 53%

PIGW appears alongside liver and gallbladder in 9 sources

Across the collected corpus, the gene PIGW co-occurs with liver and gallbladder in 9 independent documents (of 18 documents mentioning PIGW and 109 mentioning liver and gallbladder). 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:PIGW:hepatic. 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)

…ology, Professor of Internal Medicine, Division of Gastroenterology and Hepatology, Saint Louis University School of Medicine, Saint Louis University Liver Center, 3635 Vista Avenue at Grand Boulevard, St. Louis, MO 63110-0250. E-mail: baconbr@slu.edu; fax: 314-577-8125 . Potential conflict of interest:…
…irst case, a 29-year-old woman, presented with diabetes, hypertension, bilateral renal cysts, mild chronic kidney disease (CKD), hypomagnesemia, mild liver enzyme elevations, and a complex Müllerian anomaly requiring surgical correction. She has maintained excellent metabolic control on metformin alone,…
…lestasis was rapidly resolved with hormone therapy. Genetic analysis showed a de novo 17q chromosome deletion, including the HNF1β gene implicated in liver damage, and this was considered causative of the complex clinical phenotype. Our case highlights the relationship between congenital hypopituitarism…
…hepatic transcriptional regulators but has since been recognized as master coordinators of metabolic homeostasis across multiple organs including the liver, kidneys, and pancreas(16-18). As a key hub in the regulation of systemic lipid homeostasis, HNF-1 family exerts biological functions by coordinating…

Supporting documents (34)

DocumentSourcePublishedSeenRelevance
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
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
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
Severe neonatal cholestasis in HNF1β deficiency: a case report and ... pmc 2025-01-01 yesterday 1.00
Distinct chromosome abnormality patterns for differential diagnosis... 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
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
Double Common Bile Duct Associated With Choledochal Cyst: A Rare De... 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
Application of array-comparative genomic hybridization in tetralogy... pubmed 2016-12-01 yesterday 1.00
Hepatocyte nuclear factor 1 in renal lipid metabolism: molecular me... pmc 2025-01-01 yesterday 1.00
PIGW-related glycosylphosphatidylinositol deficiency: A case report... pubmed 2024-05-01 yesterday 1.00
In-Depth Phenotyping of PIGW -Related Disease and Its Role in 17q12... pubmed 2024-12-18 yesterday 1.00
Prenatally diagnosed 17q12 microdeletion syndrome with a novel asso... pubmed 2012-01-01 yesterday 1.00
Congenital diaphragmatic hernia may be associated with 17q12 microd... pubmed 2015-01-01 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
The Importance of Molecular Testing in the Diagnosis of Genetic Syn... 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
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
Precision Medicine in Pediatric Nephrology: From Shared Clinical Ph... pmc 2026-01-01 yesterday 1.00
Genetic Insights into Pediatric Polycystic Kidney Disease and Overl... pmc 2026-01-01 yesterday 1.00
Accurate diagnosis and heterogeneity analysis of a 17q12 deletion s... pubmed 2021-07-01 yesterday 1.00
[Clinical and genetic analysis of a fetus with 17q12 microdeletion ... pubmed 2023-06-10 yesterday 1.00
Prenatal diagnosis and perinatal findings of 17q12 microdeletion en... pubmed 2024-01-01 yesterday 1.00
PMC12903773 local_files - yesterday 1.00