hypophosphatemic nephrolithiasis/osteoporosis type 2

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.