Axial Osteomalacia

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Axial Osteomalacia is related to fibrogenesis imperfecta ossium and osteosclerosis. An important gene associated with Axial Osteomalacia is OSTM1 (Osteoclastogenesis Associated Transmembrane Protein 1), and among its related pathways/superpathways are Transport of inorganic cations/anions and amino acids/oligopeptides and Ion channel transport. Affiliated tissues include bone and liver, and related phenotypes are myopathy and elevated circulating creatine kinase concentration

Related ID：

MALACARDS：AXL003

OMIM：109130

MESH：C537791