This website provides information on patients with mutations in the TULP3 gene, including clinical data, molecular data, management and research options.

The syndrome caused by mutations in the TULP3 gene is a multisystem disorder characterized by fibrocystic kidney disease (often with enlarged, echogenic kidneys), congenital hepatic fibrosis or bile duct plate malformation, and late onset cardiomyopathy.
Not all individuals with a mutation in the TULP3 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 TULP3 gene.

John Andrew Sayer, MBChB, PhD, Newcastle University, Newcastle upon Tyne, UK, john.sayer@ncl.ac.uk

Carsten Bergmann, MD, Department of Medicine IV, University of Freiburg and Medizinische Genetik Mainz, Limbach Genetics, Mainz, Germany, carsten.bergmann@medgen-mainz.de