hereditary hypophosphatemic rickets with hypercalciuria
MeSH: C562793ORPHA: 157215
Overview
Human disease
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with hereditary hypophosphatemic rickets with hypercalciuria, sourced from HPO and Orphanet clinical annotations.
HypophosphatemiaHypercalciuriaHyperphosphaturiaHypophosphatemic ricketsElevated alkaline phosphatase of bone originHigh serum calcitriolElevated circulating beta-CTX concentrationIncreased circulating osteocalcin levelDecreased circulating parathyroid hormone levelNephrolithiasisAbnormality of the skeletal systemGrowth delayBone painOsteomalaciaReduced bone mineral densityMedullary nephrocalcinosisRachitic rosaryWaddling gaitPathologic fractureBowing of the legsShort stature
Classification & Codes
MeSH Code
C562793Orphanet Code
ORPHA:157215hereditary hypophosphatemic rickets with hypercalciuria
| MeSH | C562793 |
| Orphanet | ORPHA:157215 |
| Treatments | 0 drug(s) |
| Symptoms on record | 21 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO