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.
OMIM.ORG articleOmim 612287