This website provides information on patients with mutations in the COL4A5 gene, including clinical data, molecular data, management and research options.

The syndrome caused by mutations in the COL4A5 gene is a multisystem disorder (X-linked or XL Alport syndrome) characterized by Haematuria, progressive kidney failure, hearing loss and ocular abnormalities (lenticonus, fleck retinopathy).
Not all individuals with a mutation in the COL4A5 gene have all 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 COL4A5 gene.

Prof Judy Savige, MBBS, PhD, Department of Medicine (Melbourne Health and Northern Health), The University of Melbourne, Melbourne, Australia, j.savige@unimelb.edu.au