Dent Disease
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.
Year introduced: 2011
Date introduced: June 25, 2010
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Tree Number(s): 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
MeSH Unique ID: D057973
Entry Terms:
- Disease, Dent
- Dent's Disease
- Disease, Dent's
- Dents Disease
- Disease, Dents
See Also: