This website provides information on patients with mutations in the COL4A3 gene, including clinical data, molecular data, management and research options.

The syndrome caused by mutations in the COL4A3 gene is a multisystem disorder (Autosomal dominant (AD) Alport syndrome with one mutation; or Autosomal recessive (AR) Alport syndrome with two mutations, characterized by Haematuria, and sometimes proteinuria and impaired kidney function (AD Alport syndrome) or haematuria, proteinuria, impaired kidney function, hearing loss and eye abnormalities (lenticonus, fleck retinopathy) (AR Alport syndrome).
Not all individuals with one or two mutations in the COL4A3 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 COL4A3 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