hypophosphatemia
Homozygous mutants (Npt2(-/-)) exhibit increased urinary Pi excretion, hypophosphatemia, an appropriate elevation in the serum concentration of 1,25-dihydroxyvitamin D with attendant hypercalcemia, hypercalciuria and decreased serum parathyroid hormone levels, and increased serum alkaline phosphatase activity.
Homozygous mutants (<span class="gene" id="9560283-3-20-24">Npt2</span>(-/-)) exhibit increased urinary Pi excretion, <span class="disease" id="9560283-3-71-87">hypophosphatemia</span>, an appropriate elevation in the serum concentration of 1,25-dihydroxyvitamin D with attendant hypercalcemia, hypercalciuria and decreased serum parathyroid hormone levels, and increased serum alkaline phosphatase activity.