hypoparathyroidism, familial isolated
MeSH: C537156ORPHA: 2238
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 hypoparathyroidism, familial isolated, sourced from HPO and Orphanet clinical annotations.
Cerebellar calcificationsHypoparathyroidismSeizureHypocalcemiaMyopathyAbnormal circulating calcium-phosphate regulating hormone concentrationCataractAbnormal dental enamel morphologyDelayed eruption of teethMuscle weaknessCerebral calcificationHyperphosphatemiaMuscle spasmHypocalcemic tetanyArrhythmiaNephropathyShort statureLaryngospasmGlobus pallidus calcification
Classification & Codes
MeSH Code
C537156Orphanet Code
ORPHA:2238hypoparathyroidism, familial isolated
| MeSH | C537156 |
| Orphanet | ORPHA:2238 |
| Treatments | 0 drug(s) |
| Symptoms on record | 19 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO