UMOD Mutation Registry

Hello,

Thank you for visiting our website help families with autosomal dominant tubulointerstitial kidney disease due to mutations in UMOD (ADTKD-UMOD).

Below, you will find a copy of our UMOD mutational catalog and diagram. The mutational catalog includes as many UMOD mutations as we have been able to identify, as well as the number of individuals affected and the mean age of end-stage kidney disease for each mutation.

It would be most helpful to this registry if you could complete the survey below to share UMOD mutations you have found in your families so that we can all better understand the prevalence of ADTKD-UMOD and variety of mutations found/known to cause ADTKD-UMOD.

In addition, we provide support to patients with webinars, regional meetings, and patient-based information. We are trying to enroll as many affected individuals into our registry as possible. Please ask your patients to consider being part of our registry and ask them to contact us at kidney@wakehealth.edu.

If you have any questions or further information you would like to share, please contact Anthony J. Bleyer, MD, MS ableyer@wakehealth.edu or Kendrah Kidd, MS kkidd@wakehealth.edu.

Catalog of UMOD Pathogenic Mutations from literature, collaborators, and referred families.

Attachment:UMOD_mutations_2019.pdf

Amino Acid Structure of UMOD with Mutations

Attachment:umod_diagram_2019.pdf

DNA change

Exon

Amino Acid number

Amino Acid Change

Domain

Sequencing information

Expand

Number of families you have with this mutation

Number of individuals you have with this mutation

Number of individuals who have reached end stage renal disease (ESRD)

Average age of ESRD for this mutation

Any further clinical information about families with this mutation

Expand

Reference

Your Name

Institution

City, State or Province, Country

Any further comments you have about this mutation

Expand

You have selected an option that triggers this survey to end right now.

To save your responses and end the survey, click the 'End Survey' button below. If you have selected the wrong option by accident and/or wish to return to the survey, click the 'Return and Edit Response' button.