Mesh term Dent Disease
Browse to parent terms:Genetic Diseases, X-Linked
Renal Tubular Transport, Inborn Errors
Description
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.Search for this term in our Faculty Database
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