familial hypocalciuric hypercalcemia 3
ORPHA: 101050
Overview
familial hypocalciuric hypercalcemia that has material basis in heterozygous mutation in the AP2S1 gene on chromosome 19q13
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Classification & Codes
Orphanet Code
ORPHA:101050familial hypocalciuric hypercalcemia 3
| Orphanet | ORPHA:101050 |
| Treatments | 0 drug(s) |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO