This website provides information on patients with mutations in the HNF1B gene, including clinical data, molecular data, management and research options.
The syndrome caused by mutations in the HNF1B gene is a multisystem disorder characterized by renal cysts and other renal abnormalities (multicystic dysplastic kidneys, hypoplasia, interstitial fibrosis, agenesis, solitary kidney, horseshoe kidney), hypomagnesemia, hypocalciuria, maturity-onset diabetes of the young (MODY) type 5, pancreatic hypoplasia, elevated liver enzymes, genital tract malformations, autism spectrum disorder, mental retardation, gout and hyperthyroidism. Not all individuals with a mutation in the HNF1B gene have these features.
This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the HNF1B gene.
J.H.F. de Baaij, PhD, Assistant Professor, Physiology, Radboud Institute for Molecular Life Sciences, Radboudumc, Nijmegen, the Netherlands, firstname.lastname@example.org
J.G.J. Hoenderop, PhD, Full Professor, Physiology, Radboud Institute for Molecular Life Sciences, Radboudumc, Nijmegen, the Netherlands, email@example.com