autosomal recessive hypophosphatemic rickets
MeSH: C562792ORPHA: 289176
Overview
rickets that has material basis in autosomal recessive inheritance mutation in the DMP1 gene and is haracterized by hypophosphatemia, rickets and/or osteomalacia and slow growth
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 autosomal recessive hypophosphatemic rickets, sourced from HPO and Orphanet clinical annotations.
Hypophosphatemic ricketsRenal phosphate wastingSensorineural hearing impairmentDelayed eruption of teethGrowth delaySkeletal dysplasiaBone painOsteomalaciaCoxa varaAbnormality of the lower limbGenu varumEnlargement of the wristsHyperphosphaturiaShort statureSclerotic vertebral endplatesDistal femoral bowingPolyarticular arthritisRickets of the lower limbsRenal hypophosphatemiaElevated alkaline phosphatase of bone originIncreased bone mineral densityAbnormality of renal excretionLow serum calcitriolAbnormality of vitamin D metabolismLower limb asymmetryAbnormal trabecular bone morphologyCraniosynostosisMalabsorptionTibial bowingSpinal canal stenosisTooth abscessPseudo-fracturesEnthesitisAbnormal sacroiliac joint morphology
Classification & Codes
MeSH Code
C562792Orphanet Code
ORPHA:289176autosomal recessive hypophosphatemic rickets
| MeSH | C562792 |
| Orphanet | ORPHA:289176 |
| Treatments | 0 drug(s) |
| Symptoms on record | 34 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO