Dent Disease

**Definition:** X-linked recessive NEPHROLITHIASIS characterized by HYPERCALCIURIA; HYPOPHOSPHATEMIA; NEPHROCALCINOSIS; and PROTEINURIA. It is associated with mutations in the voltage-gated chloride channel, CLC-5 (Dent Disease I). Another group of mutations associated with this disease is in phosphatidylinositol 4,5-bisphosphate-5-phosphatase gene.

**Tree numbers:** - C12.050.351.968.419.815.364 - C12.200.777.419.815.364 - C12.950.419.815.364 - C16.320.322.100 - C16.320.831.271

**Synonyms:** - Dent's Disease - Dents Disease