hypophosphatemic rickets, X-linked recessive
ORPHA: 1652
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 hypophosphatemic rickets, X-linked recessive, sourced from HPO and Orphanet clinical annotations.
Renal insufficiencyRenal tubular atrophyProteinuriaFocal segmental glomerulosclerosisProximal tubulopathyRenal phosphate wastingNephrocalcinosisCataractNephrolithiasisHematuriaHypotoniaMild intellectual disabilityAbdominal painHypercalciuriaBone painDelayed epiphyseal ossificationRicketsRecurrent fracturesAbnormality of the lower limbOsteomalaciaSparse bone trabeculaeThin bony cortexAminoaciduriaElevated circulating creatine kinase concentrationBowing of the legsBulging epiphysesEnlarged epiphysesEnlargement of the wristsMetaphyseal irregularityEnlargement of the anklesGlycosuriaHyperphosphaturiaLow-molecular-weight proteinuriaHyperuricosuriaTubulointerstitial fibrosisNon-acidotic proximal tubulopathyChronic kidney diseaseRenal hypophosphatemiaMild global developmental delayHigh serum calcitriol
Classification & Codes
Orphanet Code
ORPHA:1652hypophosphatemic rickets, X-linked recessive
| Orphanet | ORPHA:1652 |
| Treatments | 0 drug(s) |
| Symptoms on record | 40 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO