HNF1B, HNF1 homeobox B, 6928

N. diseases: 279; N. variants: 72
Disease: Renal cysts and diabetes syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0431693
Disease: Renal cysts and diabetes syndrome
Renal cysts and diabetes syndrome 		0.800 Biomarker disease BEFREE Hepatocyte nuclear factor 1β (HNF1B), located on chromosome 17q12, causes renal cysts and diabetes syndrome (RCAD). 31131422 2019
CUI: C0431693
Disease: Renal cysts and diabetes syndrome
Renal cysts and diabetes syndrome 		0.800 GeneticVariation disease BEFREE We report a sporadic case of maturity-onset diabetes of the young type 5 (MODY5) with a whole-gene deletion of the hepatocyte nuclear factor-1beta (HNF1B) gene. 31391355 2019
CUI: C0431693
Disease: Renal cysts and diabetes syndrome
Renal cysts and diabetes syndrome 		0.800 GeneticVariation disease BEFREE Renal Cysts and Diabetes Syndrome (RCAD) is an autosomal dominant disorder caused by mutations in the HNF1B gene encoding for the transcriptional factor hepatocyte nuclear factor-1B. 30778115 2019
CUI: C0431693
Disease: Renal cysts and diabetes syndrome
Renal cysts and diabetes syndrome 		0.800 CausalMutation disease CLINVAR The importance of combined NGS and MLPA genetic tests for differential diagnosis of maturity onset diabetes of the young. 30259503 2019
CUI: C0431693
Disease: Renal cysts and diabetes syndrome
Renal cysts and diabetes syndrome 		0.800 GeneticVariation disease CLINVAR Genetic basis of early-onset, maturity-onset diabetes of the young-like diabetes in Japan and features of patients without mutations in the major MODY genes: Dominance of maternal inheritance. 29927023 2018
CUI: C0431693
Disease: Renal cysts and diabetes syndrome
Renal cysts and diabetes syndrome 		0.800 GeneticVariation disease BEFREE A complete deletion of HNF1B can be found in about 50% of patients with MODY5. 30032214 2018
CUI: C0431693
Disease: Renal cysts and diabetes syndrome
Renal cysts and diabetes syndrome 		0.800 GeneticVariation disease BEFREE Primary male factor infertility due to asthenospermia in maturity-onset diabetes of the young type 5 (MODY 5): uncommon presentation of an uncommon disease. 29574432 2018
CUI: C0431693
Disease: Renal cysts and diabetes syndrome
Renal cysts and diabetes syndrome 		0.800 CausalMutation disease CLINVAR Genetic basis of early-onset, maturity-onset diabetes of the young-like diabetes in Japan and features of patients without mutations in the major MODY genes: Dominance of maternal inheritance. 29927023 2018
CUI: C0431693
Disease: Renal cysts and diabetes syndrome
Renal cysts and diabetes syndrome 		0.800 GeneticVariation disease CLINVAR Spectrum of mutations in monogenic diabetes genes identified from high-throughput DNA sequencing of 6888 individuals. 29207974 2017
CUI: C0431693
Disease: Renal cysts and diabetes syndrome
Renal cysts and diabetes syndrome 		0.800 Biomarker disease GENOMICS_ENGLAND Genetic causes of hypomagnesemia, a clinical overview. 27234911 2017
CUI: C0431693
Disease: Renal cysts and diabetes syndrome
Renal cysts and diabetes syndrome 		0.800 CausalMutation disease CLINVAR Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene. 27657687 2017
CUI: C0431693
Disease: Renal cysts and diabetes syndrome
Renal cysts and diabetes syndrome 		0.800 Biomarker disease BEFREE HNF1B was first identified as a disease gene for diabetes (MODY5) in 1997, and its involvement in renal disease was subsequently noted through clinical observations in pedigrees affected by MODY5. 26160100 2016
CUI: C0431693
Disease: Renal cysts and diabetes syndrome
Renal cysts and diabetes syndrome 		0.800 CausalMutation disease CLINVAR Chromosome 17q12 microdeletions but not intragenic HNF1B mutations link developmental kidney disease and psychiatric disorder. 27234567 2016
CUI: C0431693
Disease: Renal cysts and diabetes syndrome
Renal cysts and diabetes syndrome 		0.800 Biomarker disease CLINGEN Early Developmental Perturbations in a Human Stem Cell Model of MODY5/HNF1B Pancreatic Hypoplasia. 26876668 2016
CUI: C0431693
Disease: Renal cysts and diabetes syndrome
Renal cysts and diabetes syndrome 		0.800 Biomarker disease CLINGEN Differential regulation of serum microRNA expression by HNF1β and HNF1α transcription factors. 27059371 2016
CUI: C0431693
Disease: Renal cysts and diabetes syndrome
Renal cysts and diabetes syndrome 		0.800 GeneticVariation disease CLINVAR Maturity onset diabetes of youth (MODY) in Turkish children: sequence analysis of 11 causative genes by next generation sequencing. 26669242 2016
CUI: C0431693
Disease: Renal cysts and diabetes syndrome
Renal cysts and diabetes syndrome 		0.800 CausalMutation disease CLINVAR Hepatocyte Nuclear Factor 1β-Associated Kidney Disease: More than Renal Cysts and Diabetes. 26319241 2016
CUI: C0431693
Disease: Renal cysts and diabetes syndrome
Renal cysts and diabetes syndrome 		0.800 GeneticVariation disease CLINVAR A novel mutation of the HNF1B gene associated with hypoplastic glomerulocystic kidney disease and neonatal renal failure: a case report and mutation update. 25700310 2015
CUI: C0431693
Disease: Renal cysts and diabetes syndrome
Renal cysts and diabetes syndrome 		0.800 CausalMutation disease CLINVAR Criteria for HNF1B analysis in patients with congenital abnormalities of kidney and urinary tract. 25500806 2015
CUI: C0431693
Disease: Renal cysts and diabetes syndrome
Renal cysts and diabetes syndrome 		0.800 GeneticVariation disease BEFREE Heterozygous germline mutations of HNF1B are associated with the renal cysts and diabetes syndrome (RCAD). 25700310 2015
CUI: C0431693
Disease: Renal cysts and diabetes syndrome
Renal cysts and diabetes syndrome 		0.800 GeneticVariation disease CLINVAR Identification and molecular characterization of HNF1B gene mutations in Indian diabetic patients with renal abnormalities. 25441779 2015
CUI: C0431693
Disease: Renal cysts and diabetes syndrome
Renal cysts and diabetes syndrome 		0.800 CausalMutation disease CLINVAR HNF1B-associated renal and extra-renal disease-an expanding clinical spectrum. 25536396 2015
CUI: C0431693
Disease: Renal cysts and diabetes syndrome
Renal cysts and diabetes syndrome 		0.800 Biomarker disease CLINGEN Identification and molecular characterization of HNF1B gene mutations in Indian diabetic patients with renal abnormalities. 25441779 2015
CUI: C0431693
Disease: Renal cysts and diabetes syndrome
Renal cysts and diabetes syndrome 		0.800 Biomarker disease BEFREE Hepatocyte nuclear factor 1-β (HNF1B) defects cause renal cysts and diabetes syndrome (RCAD), or HNF1B-maturity-onset diabetes of the young. 25741167 2015
CUI: C0431693
Disease: Renal cysts and diabetes syndrome
Renal cysts and diabetes syndrome 		0.800 CausalMutation disease CLINVAR A novel mutation of the HNF1B gene associated with hypoplastic glomerulocystic kidney disease and neonatal renal failure: a case report and mutation update. 25700310 2015