familial hypocalciuric hypercalcemia
ORPHA: 405
Overview
hypercalcemia characterized byautosomal dominant inheritance with elevation of serum calcium levels and decreased urinary calcium excretion
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 familial hypocalciuric hypercalcemia, sourced from HPO and Orphanet clinical annotations.
HypercalcemiaHypocalciuriaReduced ratio of renal calcium clearance to creatinine clearanceParathormone-independent increased renal tubular calcium reabsorptionOsteomalaciaRenal hypophosphatemiaChondrocalcinosisNausea and vomitingHeadacheEpisodic abdominal painHypermagnesemiaPeptic ulcerFatigueHypomagnesiuriaNephrolithiasisPancreatitisHypocalcemic seizuresAutoimmunityLipoma
Classification & Codes
Orphanet Code
ORPHA:405familial hypocalciuric hypercalcemia
| Orphanet | ORPHA:405 |
| Treatments | 0 drug(s) |
| Symptoms on record | 19 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO