Hypophosphatemic Rickets with Hypercalciuria (SLC34A3)
Hypophosphatemic rickets with hypercalciuria is a rare metabolic autosomal recessive disorder caused by pathogenic variants in the gene SLC34A3. The age of onset is infancy or early childhood. The common clinical manifestations include hypophosphatemia (low levels of phosphate in the blood), bone abnormalities, muscle weakness, hypotonia, bone pain, hypercalciuria (high levels of calcium in the urine), growth delays, and recurrent kidney and renal stones. With appropriate treatment, life expectancy is expected to be normal.
For information about carrier frequency and residual risk, please see the residual risk table.