Synonyms: ADTKD-UMOD | Familial juvenile hyperuricemic nephropathy type 1 | MCKD2 | Medullary cystic kidney disease type 2 | UMOD-related ADTKD | Uromodulin-associated kidney disease
A form of autosomal dominant tubulointerstitial kidney disease (ADTKD) due to UMOD mutations that is clinically characterized by bland urinalysis (absence of blood or protein in the urine) chronic kidney disease (CKD) leading to end-stage kidney disease (ESKD) between 20 and 80 years and gout occurring in 50% of affected individuals.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version September 2024
Newly diagnosed with
UMOD-related autosomal dominant tubulointerstitial kidney disease?
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Advocacy Organizations
Help Hope Live
Help Hope Live supports community-based fundraising for people with unmet medical expenses and related costs due to cell and organ transplants or catastrophic injuries and illnesses. These efforts play a critical role in helping clients access the care and equipment they need to heal, live, and thrive. Unlock a powerful and safe way to raise funds for medical needs with Help Hope Live. They provide one-on-one fundraising guidance, a customizable Campaign Page, bill pay support, and additional benefits based on their 501(c)(3) nonprofit status.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
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Clinical Trials
For a list of clinical trials in this disease area, please click here.