UMOD Mutation Catalog

The UKD Foundation maintains a list of mutations that have been reported in the uromodulin encoding gene, UMOD, that cause the autosomal dominant Uromodulin Kidney Disease (UKD).

Our goal is to publish a central catalog of UMOD mutations, both published and unpublished, to facilitate further investigation into the nature and cause of UKD.  We have organized this information into an amino acid diagram, a table to facilitate comparisons of the phenotypes associated with each mutation, and a summary poster. We strive to keep these materials up to date and continually improve the format and content to facilitate broader use. We source this information from published literature and from UKD investigators.  We also encourage UKD investigators to notify us of updates, corrections and provide feedback on what we can do to better support their work.

If you would like to comment or contribute, please contact us.

The current materials available in the UKD Mutation Catalog are as follows:

The summary poster, diagram and list are freely available for use by researchers and clinicians but please credit the UKD Foundation and Wake Forest School of Medicine as the source.