Dent disease

Get in touch with RARE Concierge.

Contact RARE Concierge

Synonyms: Dent syndrome | Low-molecular-weight proteinuria with hypercalciuria and nephrocalcinosis | Renal Fanconi syndrome with nephrocalcinosis and renal stones | X-linked recessive hypercalciuric hypophosphatemic rickets | X-linked recessive nephrolithiasis

A rare X-linked renal tubular diseases characterized by a primary proximal tubule dysfunction with low-molecular-weight proteinuria. Other renal features often include hypercalciuria nephrolithiasis/nephrocalcinosis and progressive renal failure among others. There are two subtypes: Dent disease type 1 characterized by an isolated renal phenotype in association with CLCN5 variants and Dent disease type 2 often characterized by the addition of extra renal manifestations in association with OCRL1 variants.

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 Data version July 2024

Newly diagnosed with
Dent disease?

Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.

Get Concierge Help

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.

Don't see your organization here. Let us know here.

Clinical Trials

For a list of clinical trials in this disease area, please click here.