hypophosphatemic nephrolithiasis/osteoporosis type 2
(redirected from NPHLOP2)hypophosphatemic nephrolithiasis/osteoporosis type 2
A condition (OMIM:612287) characterised by idiopathic renal phosphate loss leading to kidney stone formation and hypophosphataemic osteoporosis.Molecular pathology
Caused by defects of SLC9A3R1, which encodes a scaffold protein that acts as a sodium/hydrogen-exchanger regulatory cofactor.
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