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Congenital anomalies of kidney and urinary tract Description Congenital anomalies of kidney and urinary tract (CAKUT) is a group of abnormalities affecting the kidneys or other structures of the urinary tract.
ALS etiology and prognostic factors are mostly unknown. Metabolic diseases and especially diabetes mellitus (DM) have been variously related to ALS.
Medical condition Renal cysts and diabetes syndrome ( RCAD ), also known as MODY 5 or HNF1B-MODY , is a form of maturity onset diabetes of the young .
Genetic testing is becoming a routine-and increasingly time-sensitive-tool in nephrology, with implications for diagnosis, prognosis, targeted therapy, transplant planning, and family counselling.
Protein-coding gene in the species Homo sapiens LIM homeobox 1 also known as Lim-1 is a protein that in humans is encoded by the LHX1 gene .
Kidney organoids made from pluripotent stem cells have the potential to revolutionize how kidney development, disease, and injury are studied.
Background: The 17q12 recurrent deletion syndrome is a genomic disorder encompassing a 1.4 to 1.5 Mb region that includes the HNF1B gene, and it manifests with remarkable phenotypic variability.
Hepatocyte nuclear factor 1β ( HNF1β )-related disease is a rare autosomal dominant genetic disorder. It presents with diverse clinical phenotypes and involves multiple systems.
Introduction In South Korea, low‐resolution chromosomal microarray analysis (LR‐CMA) is frequently used as a screening tool to identify chromosomal anomalies in asymptomatic newborns.
Congenital anomalies of the kidney and urinary tract (CAKUT) represent a heterogeneous group of developmental disorders and are the leading cause of pediatric chronic kidney disease worldwide.
2666-5778 6 2 2026 May AJOG global reports AJOG Glob Rep Chromosome 17q12 deletion, including HNF1B presenting with recurrent severe cholestasis and profound hypomagnesemia during pregnancy: a case report.
2296-858X 13 2026 Frontiers in medicine Front Med (Lausanne) 17q12 deletion syndrome presenting with chronic pancreatitis: a case report.
2296-2360 14 2026 Frontiers in pediatrics Front Pediatr Genetic evaluation and pregnancy outcome of fetuses with digestive system malformations: an eight-year single-center retrospective study.
1664-2392 17 2026 Frontiers in endocrinology Front Endocrinol (Lausanne) A familial case report of 17q12 recurrent deletion syndrome: clinical and molecular characterization.
2048-8505 19 7 2026 Jul Clinical kidney journal Clin Kidney J HNF1B -related disease: developmental origins, molecular mechanisms, and multisystem clinical challenges. sfag185 sfag185 sfag185 10.1093/ckj/sfag185 Variants or deletions involving the HNF1B gene cause HNF1B -MODY.
17q12 deletion syndrome Description 17q12 deletion syndrome is a condition that results from the deletion of a small piece of chromosome 17 in each cell.
Maturity-onset diabetes of the young Description Maturity-onset diabetes of the young (MODY) is a group of several conditions characterized by abnormally high levels of blood glucose, also called blood sugar.
The purpose of the 17q12 Patient Registry is to bring the chromosome 17q12 deletion and duplication syndrome community together and collect data.
Institutional Review Board (IRB) An Institutional Review Board, for the purpose of protecting your/the Study Participant's rights, has reviewed this registry.
The 17q12 Patient Registry serves the chromosome 17q12 deletion and duplication syndromes community.
How To Register – 17q12 Patient Registry
For Researchers 17q12 Patient Registry For Researchers The 17q12 Patient Registry collects disease-specific natural history data about individuals with chromosome 17q12 deletion or duplication syndrome, with the goal of improving the understanding of chromosome 17q12 deletion and duplication syndromes and informing...
Chromosome 17q12 Deletion and Duplication Syndromes Patient Registry (17q12 Patient Registry) The 17q12 Patient Registry serves the chromosome 17q12 deletion and duplication syndromes community.
Chromosome 17q12 Deletion and Duplication Syndromes Patient Registry (17q12 Patient Registry) The 17q12 Patient Registry serves the chromosome 17q12 deletion and duplication syndromes community.
ODB Disclaimer: Please note that NORD provides this information for the benefit of the rare disease community.
ODB Disclaimer: Please note that NORD provides this information for the benefit of the rare disease community.
17q12 microdeletions rarechromo.org 17q12 microdeletions A chromosome 17q12 microdeletion means that a part of one of the body's chromosomes has been lost or deleted.
17q12 microdeletion syndrome is a chromosomal condition in which a small part of chromosome 17 is missing (deleted). 1 This small deletion, also known as a microdeletion, occurs at a location on chromosome 17 called 17q12.
HNF1B gene HNF1 homeobox B Normal Function The HNF1B gene provides instructions for making a protein called hepatocyte nuclear factor-1 beta (HNF-1β).
The 17q12 Patient Registry is an online registry for people with chromosome 17q12 deletion or duplication syndrome.
For Patients & Caregivers For Organizations For Clinicians & Researchers Sign Up for NORD News Make 2026 Count: Gift research, care, and advocacy for families everywhere Your gift today fuels progress in the lab, in clinics, on Capitol Hill and for rare families who can't wait another year for answers.
The Genetic and Rare Diseases Information Center (GARD) has information and resources for patients, caregivers, and families that may be helpful before and after diagnosis of this condition.
Clinical characteristics and etiologies of hypomagnesemia in children: a single-center retrospective cohort study.
Objective To summarize the etiologies, clinical manifestations, and genetic profiles of children with hypomagnesemia admitted to the Department of Pediatric Endocrinology, Metabolism and Genetics (PEGM).
Integrative Bioinformatics Analysis Incorporating Artificial Intelligence and Machine Learning Identifies Putative Pathogenic HNF1B Missense Variants Associated with HNF1B-MODY Maturity-onset diabetes of the young type 5 (MODY5 or HNF1B-MODY) is a rare form of diabetes caused by variants in HNF1B.
Methods: We designed and evaluated a 28-gene ADPKD-spectrum hybrid-capture panel in a 16-sample, two-configuration pilot using 694 analytical target intervals per sample.
OBJECTIVE To characterize the prevalence and penetrance of maturity-onset diabetes of the young (MODY) in a multi-ancestry population using a genotype-first design.
Treatment Options for Patients with Maturity-Onset Diabetes of the Young (MODY): A Systematic Review of Literature: 2026 Update INTRODUCTION: Maturity-onset diabetes of the young (MODY) is a rare monogenic form of diabetes characterized by impaired insulin secretion and genetic and clinical heterogeneity.
Background Inherited kidney diseases (IKDs) and congenital anomalies of the kidney and urinary tract (CAKUT) are a clinically heterogeneous subset of chronic kidney disease and rank among the leading causes of kidney failure (KF), especially in younger patients.
Unilateral multicystic kidney associated with 17q12 duplication, presenting with mass effect symptoms in a young patient Cystic renal diseases are a complex group of conditions that range in severity from mild
Additional file 1 of Transient neonatal diabetes mellitus as an early diagnostic clue to HNF1B-related disease - two case reports and a literature review Supplementary Material 1: Supplementary Figure 1.
Background Pathogenic variants in the HNF1B gene cause a multi system disorder encompassing organ abnormalities-primarily affecting the kidneys and pancreas-as well as metabolic disturbances, collectively referred to as HNF1B-related disease.
Functional validation of a non-canonical HNF1B splice-site variant in MODY5 Background Mutations in the HNF1B gene can cause developmental and functional abnormalities in multiple organs such as the pancreas, kidneys, and liver.
Chromosome 17q12 deletion, including HNF1B presenting with recurrent severe cholestasis and profound hypomagnesemia during pregnancy: a case report Introduction: 17q12 deletion features kidney/genital abnormalities, maturity-onset diabetes of the young, and bile duct hypoplasia.
Identification of maturity-onset diabetes of the young through targeted next-generation sequencing in Thai patients with atypical diabetes in real-world practice Introduction Maturity-onset diabetes of the young (MODY) is often misdiagnosed as either autoimmune type 1 diabetes (T1D) or polygenic type 2 diabetes...
Background Developmental dyslexia (DD) and attention-deficit/hyperactivity disorder (ADHD) frequently co-occur and are believed to share genetic risk factors.
P786: Chromosome 17q12 deletion including HNF1B presenting with recurrent severe cholestasis and profound hypomagnesemia during pregnancy The patient had ongoing magnesium infusions during hospital admissions and as an outpatient.
The Prenatal Phenotype: Illustrating the Complexities of Genetic Testing and Interpretation With the Goal of Understanding the Fetal Presentation of Genetic Disease Advanced prenatal imaging and chromosomal microarray have improved detection of fetal anomalies, yet many structurally abnormal fetuses remain without...
Möjlig underdiagnostisering av 17q12-mikrodeletionssyndrom The patient had presented symptoms during preschool years with motor coordination difficulties, deviant reactions to sensory stimuli and separation anxiety.
Bilaterally Enlarged Echogenic and Cystic Fetal Kidneys: HNF1B-Related Disease in the Differential Diagnosis
Atypical Renal Hypoplasia in HNF1B-Related Disease: The Clinical Impact of Early Genetic Diagnosis Background: Genetic testing is an increasingly important component in the diagnostic evaluation of kidney diseases.
Background Fetal polycystic kidney disease (FPDK) is a common ultrasound finding, but its genetic causes vary widely, and data from Yunnan Province are scarce.
Objective: To evaluate the prenatal phenotypic spectrum in correlation with chromosomal copy number variations and their pregnancy outcomes.
Primary hypothyroidism is managed with oral levothyroxine (LT4) using a daily dose of 1.5 to 2 µg per kg. Elevated thyroid-stimulating hormone (TSH) despite a high dose of LT4 is a common problem and could be due to multiple etiologies, including poor drug compliance, thyroxine (T4) malabsorption, celiac disease,...
Clinical Spectrum and Early Renal Functional Variability in a Nationwide Greek Pediatric HNF1B Multicenter Cohort Background/Objectives: Hepatocyte nuclear factor 1 beta (HNF1B)-associated disease is a major monogenic cause of pediatric cystic kidney disease.
Clinical characteristics and etiologies of hypomagnesemia in children: a single-center retrospective cohort study To summarize the etiologies, clinical manifestations, and genetic profiles of children with hypomagnesemia admitted to the Department of Pediatric Endocrinology, Metabolism and Genetics (PEGM).
Copy-number variants (CNVs) represent an important source of genetic variation that can influence complex traits and disease risk by altering gene dosage, disrupting coding sequence, or modifying regulatory elements.
HNF1B-MODY (MODY-5): a rare form of diabetes with multisystemic features-two case reports Introduction: Maturity-Onset Diabetes of the Young (MODY) is a rare monogenic form of diabetes characterized by early onset and autosomal dominant inheritance.
Variants or deletions involving the HNF1B gene cause HNF1B-MODY. HNF1B-MODY represents a multisystem disorder extending far beyond its original classification as a monogenic form of diabetes.
HNF1B-MODY in the Norwegian MODY Registry and the Norwegian Childhood Diabetes Registry: Clinical Insights and Prevalence Informed by Genetic and Functional Evaluation Interpreting HNF1B variants is challenging in clinical practice.
17q12 Microduplication Syndrome: The Need for Clinical Vigilance in Fetuses with Double Bubble Sign in the Era of Noninvasive Prenatal Testing Dear Editor, A 26-year-old woman, G2P1A0, underwent a normal nuchal translucency scan and received normal results from noninvasive prenatal testing (NIPT) for aneuploidy screening.
A familial case report of 17q12 recurrent deletion syndrome: clinical and molecular characterization This article presents the first reported familial case of 17q12 recurrent deletion syndrome in Russia, involving a female patient with diabetes and her daughter diagnosed with atypical autism without intellectual disability.
Genetic evaluation and pregnancy outcome of fetuses with digestive system malformations: an eight-year single-center retrospective study Background Limited reports have investigated the genetic etiology of fetuses with digestive system malformations (DSMs).
Molecular impact of a novel HNF1B missense variant in childhood-onset MODY5: a case report and functional study Maturity-onset diabetes of the young type 5 (MODY5) is a rare autosomal-dominant monogenic diabetes caused by functional loss of the transcription factor, hepatocyte nuclear factor-1 beta (HNF1B).
Transient neonatal diabetes mellitus as an early diagnostic clue to HNF1B-related disease - two case reports and a literature review BACKGROUND: Pathogenic variants in the HNF1B gene cause a multi system disorder encompassing organ abnormalities-primarily affecting the kidneys and pancreas-as well as metabolic...
17q12 deletion syndrome presenting with chronic pancreatitis: a case report Introduction: 17q12 deletion syndrome is a rare autosomal dominant disorder classically characterized by renal cystic disease, maturity-onset diabetes of the young type 5 (MODY5), and Müllerian duct anomalies (e. g., MRKH syndrome).
Prenatal Diagnosis of Renal Cysts and Diabetes Syndrome (RCAD): A Case Report BACKGROUND Renal cysts and diabetes syndrome (RCAD), caused by heterozygous variants or whole-gene deletions in the HNF1B gene, is a rare, multisystem disorder often detected prenatally by ultrasound findings of bilateral cystic or...
Monogenic Etiologies of Kidney Cysts in the Pediatric Population: An Observational Cohort Study KEY POINTS: In a cohort of children, 79% of families with kidney cysts had a monogenic diagnosis.
Retraction notice to "Prenatal diagnosis and molecular cytogenetic analyses of a rare 17q12 microdeletion and 17q11.2 microduplication family with normal phenotype" [Eur.
Multiplatform Genomic and Transcriptomic Profiling of Breast Carcinomas with an Invasive Micropapillary Component Background/Objectives: Invasive micropapillary carcinoma (IMPC) of the breast is a rare subtype with a strong propensity for lymph node metastasis, but its molecular features remain incompletely defined.
Tourette Syndrome (TS) and Persistent Tic Disorder (PTD) are childhood-onset neuropsychiatric conditions with high heritability.
Ceratocone e doença renal: Uma revisão integrativa das evidências clínicas e dos possíveis mecanismos compartilhados Objetivo: O objetivo deste estudo é integrar evidências clínicas sobre ceratocone e doença renal crônica ou nefropatias hereditárias e discutir possíveis mecanismos compartilhados, distinguindo...
Familial Multicystic Dysplastic Kidney Associated with HNF1B Mutation: A Sibling Case Report Background: HNF1B-related disease is an autosomal dominant disorder caused by mutations or whole-gene deletions in the hepatocyte nuclear factor 1-beta (HNF1B) gene on chromosome 17q12, encoding a transcription factor...
Background Complex genomic rearrangements (CGRs) are significant contributors to neurodevelopmental disorders, yet their full structural architecture often eludes conventional diagnostic methods.
Human genetics has identified numerous copy-number variations (CNVs) associated with autism spectrum disorders (ASDs). However, the lack of standardized biological resources impedes understanding of the cell-type-specific common features of ASD.
Müllerian malformations (MM) are congenital anomalies of the female reproductive tract that may have a hereditary component.
A higher resolution version of the Graphical abstract is available as Supplementary information Supplementary Information The online version contains supplementary material available at 10.
To the Editor : A 12-y-old boy presented to the hospital with unexplained tremor of the upper limbs for a week.
can be found in Supplemental Table S4 . 2.2.2. F1 Generation The indirectly exposed F1 generation displayed six DEGs at the level of ≥1 absolute log 2 fold change and p < 0.
Maturity-onset diabetes of the young type 5 (MODY5) is a rare form of monogenic diabetes caused by variants and deletions of the HNF1B gene.
Further information on research design is available in the Nature Portfolio Reporting Summary linked to this article. Methods Written informed consent was obtained from all participants recruited for this study or, where applicable, from their legal guardians prior to participation in this study.
Background Although renal abnormalities are common during fetal growth, the etiology remains largely unclear. This study aimed to determine the outcomes of fetuses with renal anomalies and the corresponding etiologies.
Introduction Monogenic diabetes is a rare cause of diabetes in the population, accounting for an estimated 1-5% of diabetes cases.
Tourette Syndrome (TS) and Persistent Tic Disorder (PTD) are childhood-onset neuropsychiatric conditions with high heritability.
Background and Objectives Cell lines serve as invaluable tools in studying lung cancer biology and developing new therapies to combat the disease.
Maturity-onset diabetes of the young type 5 (MODY5), a rare disease, is often misdiagnosed as type 2 diabetes, leading to delays in diagnosis.
Chronic lymphocytic leukemia (CLL) is one of the most prevalent adult leukemias, derived from mature B-cells and exhibiting a highly heterogeneous disease course.
Edited by: Jordi Pérez-Tur , Spanish National Research Council (CSIC), Spain Reviewed by: Cristina Skrypnyk , Arabian Gulf University, Bahrain Angie Jelin , Johns Hopkins University, United States These authors have contributed equally to this work Background Fetal hyperechoic kidney is an important soft marker in...
The mechanisms of age-related differences and innovative intervention strategies for cognitive dysfunction in hemodialysis patients are crucial for enhancing patient outcomes.
Background There is no clear guidance on prenatal diagnostic testing strategies for congenital renal anomalies. Therefore, this study aims to investigate the retrospective analysis of ultrasound and genetic diagnostic results in cases of fetal renal abnormalities and to establish genotype-phenotype correlations.
TBC1D3 is a primate-specific gene family that has expanded in the human lineage and has been implicated in neuronal progenitor proliferation and expansion of the frontal cortex.
Author Contributions All authors contributed to patient phenotyping data and sample collection or to analyses.
Objectives The aim of the study was to evaluate the detection rate of genetic abnormalities in cases of foetal gallbladder (FGB) size abnormalities to determine whether these abnormalities justify prenatal diagnosis.
of WES info and statistics, [ 36 , 37 , 38 , 39 , 40 , 41 , 42 , 43 , 44 , 45 , 46 ]. Author Contributions L.M. and A.F. designed; L.
Background Chromosome 3q29 duplication syndrome is a rare chromosomal disorder with a frequency of 1:5000 in patients with a neurodevelopmental phenotype.
A higher resolution version of the Graphical abstract is available as Supplementary information Supplementary Information The online version contains supplementary material available at 10.
Epilepsy is a prevalent chronic neurological disorder that can significantly impact patients' lives.
of the genetic etiologies known to be associated with this condition. Methods: A literature search was conducted as a scoping review employing OMIM, PubMed, and Cochrane to identify cases of BRA with known underlying genetic (chromosomal versus single gene) etiologies and those described in syndromes without any...
Background To determine the pathogenicity of a novel splicing variant in the SMARCC2 gene identified from a pair of adult male monozygotic twins with neurodevelopmental disorder, and to investigate the genotype-phenotype characteristics associated with SMARCC2 variants.
A young man presented unconscious with severe hyponatraemia, hypokalaemia, hypomagnesaemia and metabolic alkalosis.
Low-penetrance pathogenic copy number variations (CNVs), variation of uncertain significance (VUS) CNVs and likely pathogenic CNVs present a challenge for prenatal diagnosis.
Background The 17q12 deletion syndrome (17q12DS) is a heterozygous deletion of a 1.4 megabase‒spanning DNA sequence on chromosome 17.
statistics [ 45 ]. For instance, some methods clarify that summary statistics a few standard deviations above a genome-wide mean do not have p values [ 22 , 31 ], and equally so, no adjustment for multiple testing.
Background and Objectives : Congenital duodenal obstruction (CDO) is a very rare anomaly with an incidence of 1 in 5000-10,000 live births.
Background. Accurately classifying pediatric diabetes can be challenging for providers, and misclassification can result in suboptimal care.
Maturity-onset diabetes of the young type 5 (MODY5), causally associated with loss-of-function of the HNF1B gene, is a rare form of monogenic diabetes that has been underdiagnosed in part because microdeletions of chromosome 17q12 encompassing the HNF1B gene cannot be detected by sequencing-based approaches, which...
Objective Copy number variations (CNVs) may contribute to medical conditions. However, research on the impact of individual CNVs on endocrine disease is limited.
Technological advances such as next-generation sequencing (NGS) have enabled high-throughput assessment of the human genome, supporting the usage of genetic testing as a first-line tool across clinical medicine.
Neonatal cholestasis can be caused by several conditions, with biliary atresia being the major cause. Genetic and endocrinological etiologies represent other possibilities, with most of them requiring a rapid diagnosis and a specific treatment.
Hepatocellular carcinoma (HCC) and cholangiocarcinoma (CCA) are primary liver cancers with overlapping histopathological features, making accurate diagnosis challenging.
Objective To discuss the application value of technologies such as chromosome microarray analysis (CMA) in fetuses with hydronephrosis and pyelectasis.
Congenital heart disease (CHD) is the most common birth defect, affecting 2-8% of newborns, with a marked impact on neonatal health.
Autism spectrum disorder (ASD) is a neurodevelopmental disorder that first develops in early childhood and is characterized by restricted interests, activities, and behaviors, as well as difficulties with social interactions and communication.
To evaluate the clinical utility of genetic testing via karyotyping, chromosomal microarray analysis (CMA), and exome sequencing in cases with corpus callosum abnormalities (CCA).