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 http://www.orphadata.org. Data version April 2026
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Dent disease?
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Advocacy Organizations
Dent Disease Foundation
Mission Statement: To find a cure for Dent disease by raising funds to support research, promote communication between patients and their families and to raise awareness within the medical community worldwide.
The Chandler Project
The Chandler Project brings awareness and shines a light on transformative research surrounding achondroplasia and other skeletal dysplasias by offering support to a global community and network of patients, parents, and caregivers seeking information on scientific discoveries, pharmaceutical advancements and surgical treatment options.
Wave of Support, Inc
Empowering those affected by bleeding disorders and other rare disease through advocacy, resources, education, and support
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Clinical Trials
For a list of clinical trials in this disease area, please click here.