Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Nephrolithiasis/osteoporosis, hypophosphatemic, 2

Hypophosphatemic nephrolithiasis/osteoporosis-2 is an autosomal dominant disorder caused by mutations of the SLC9A3R1 gene. The hypophosphatemia is the result of excessive renal phosphorous loss. Both hypophosphatemia and Hyperphosphaturia cause osteoporosis and nephrocalcinosis, respectively.


Disorders of the renal phosphate transporters
Hypophosphatemic rickets with hypercalciuria
Idiopathic basal ganglia calcification 1
Nephrolithiasis/osteoporosis, hypophosphatemic, 1
Nephrolithiasis/osteoporosis, hypophosphatemic, 2



Karim Z et al. (2008) NHERF1 mutations and responsiveness of renal parathyroid hormone.

Update: Sept. 26, 2018