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Abstract: PO1310

Standardizing HNF1B-Associated Disease

Session Information

Category: Genetic Diseases of the Kidneys

  • 1002 Genetic Diseases of the Kidneys: Non-Cystic


  • Muench, Johannes, Charite Universitatsmedizin Berlin, Berlin, Berlin, Germany
  • Vasileiou, Georgia, Universitatsklinikum Erlangen, Erlangen, Bayern, Germany
  • Kowald, Jan, Universitat Leipzig, Leipzig, Sachsen, Germany
  • de Fallois, Jonathan, Universitat Leipzig, Leipzig, Sachsen, Germany
  • Engesser, Marie, Universitat Leipzig, Leipzig, Sachsen, Germany
  • Weber, Stefanie, Philipps-Universitat Marburg, Marburg, Hessen, Germany
  • Halbritter, Jan, Universitat Leipzig, Leipzig, Sachsen, Germany
  • Popp, Bernt, Universitat Leipzig, Leipzig, Sachsen, Germany

Group or Team Name

  • AG Nephrogenetics

Pathogenic variants in HNF1B are associated with a variety of inherited kidney diseases ranging from renal cysts and diabetes syndrome and CAKUT to autosomal dominant tubulointerstitial kidney disease. In addition, variable extrarenal manifestations were linked (MIM #189907). Although high throughput sequencing has advanced diagnostic variant detection, there is a lack of specific database analysis gathering both genotypic and phenotypic information from published and unpublished sources in order to establish valid genotype-phenotype correlations. By introducing a novel HNF1B database, we aim at gathering published and unpublished cases for identification of reliable variant-disease association analysis.


To standardize our own cohort and curate the clinical and genetic spectrum from the literature, we curated a list of 30 clinical features associated with HNF1B-disease based on HPO terms. Next, we developed a web-based application (available on for comprehensive data input and analysis from patient histories or published literature within the time span from 1997 - 2020.


We reviewed 968 individuals (152 publications) including 8.4% of prenatal cases and 45.0% of pediatric individuals (<18 years). Among HNF1B variants, we found 20.1% whole gene deletions (corresponding to 17q12 microdeletions), 2.3% gene duplications, 54.6% single nucleotide variants or small indels with the remainder represented by either small variants or incomplete/inaccurate descriptions. Reported phenotypes showed a vast variability with more accurate reporting in small case series or case reports. For example, renal function was not reported for 37.0% of cases while in 68.5% of cases with 17q12 microdeletion no neurodevelopmental phenotype was provided despite both phenotypes constitute hallmarks of HNF1B-associated disease.


To enhance the understanding of this multi system disorder, we will present out curation effort as an open source clinical and genetic database at Based on the literature and unpublished cohorts we will develop a recommendation for standardized reporting and selection scheme for genetic screening. Our effort exemplifies the curation efforts that are required for a better understanding of rare hereditary kidney diseases. The developed tools might serve as starting point for similar efforts.