Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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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.

Systematic

Disorders of the renal phosphate transporters
Hypophosphatemic rickets with hypercalciuria
Idiopathic basal ganglia calcification 1
Nephrolithiasis/osteoporosis, hypophosphatemic, 1
Nephrolithiasis/osteoporosis, hypophosphatemic, 2
SLC9A3R1

References:

1.

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

external link
2.

OMIM.ORG article

Omim 612287 external link
Update: Aug. 14, 2020
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