autosomal recessive osteopetrosis 6
MeSH: C566931ORPHA: 210110
Overview
osteopetrosis characterized by autosomal recessive inheritance of that has material basis in mutation in the PLEKHM1 gene on chromosome 17q21.31
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 osteopetrosis 6, sourced from HPO and Orphanet clinical annotations.
Abnormality of bone mineral densityIncreased susceptibility to fracturesRecurrent fracturesBack painSandwich appearance of vertebral bodiesErlenmeyer flask deformity of the femursCortical sclerosisOsteosclerosis of the base of the skullGeneralized osteosclerosisAbnormality of the nervous systemAnemiaElevated circulating alkaline phosphatase concentrationAbnormality of the dentitionVisual impairmentDental malocclusionCranial nerve compressionHepatosplenomegalyOsteomyelitisAbnormal dental morphologyOptic atrophy from cranial nerve compressionChronic infection
Classification & Codes
MeSH Code
C566931Orphanet Code
ORPHA:210110autosomal recessive osteopetrosis 6
| MeSH | C566931 |
| Orphanet | ORPHA:210110 |
| Treatments | 0 drug(s) |
| Symptoms on record | 21 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO