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.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
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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.
Help Hope Live
Help Hope Live assists individuals living with catastrophic injuries and illnesses to fundraise toward their medical expenses and related costs.
The Chandler Project
The Chandler Project (TCP) provides those affected with achondroplasia, and other forms of skeletal dysplasia (dwarfism), with the latest in pharmaceutical research and surgical advancements.
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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