1-alpha-hydroxylase deficiency
ORPHA: 289157
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 1-alpha-hydroxylase deficiency, sourced from HPO and Orphanet clinical annotations.
RicketsHypocalcemiaLow serum calcitriolSecondary hyperparathyroidismDeformed rib cageRachitic rosaryEnlargement of the costochondral junctionMotor delayTetanyMuscle weaknessFailure to thriveHypophosphatemiaBone painIncreased susceptibility to fracturesDelayed epiphyseal ossificationOsteomalaciaSparse bone trabeculaeThin bony cortexGeneralized aminoaciduriaGenu varumFemoral bowingTibial bowingEnlargement of the wristsEnlargement of the anklesSubperiosteal bone resorptionElevated circulating parathyroid hormone levelIrregular, rachitic-like metaphysesFlat occiputPostnatal growth retardationWide cranial suturesElevated alkaline phosphatase of bone originGait disturbanceGeneralized hypotoniaCardiomyopathyHypochromic anemiaFrontal bossingElevated circulating alkaline phosphatase concentrationShort statureDelayed eruption of teethIrritabilityProtuberant abdomenSplenomegalyIncreased total leukocyte countHypocalcemic seizuresHepatomegalyEnamel hypoplasia
Classification & Codes
Orphanet Code
ORPHA:2891571-alpha-hydroxylase deficiency
| Orphanet | ORPHA:289157 |
| Treatments | 0 drug(s) |
| Symptoms on record | 46 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO