SAPHO Syndrome

About the Disease
Sapho Syndrome, also known as acquired hyperostosis syndrome, is related to spondylarthropathy and synovitis. An important gene associated with Sapho Syndrome is PSTPIP2 (Proline-Serine-Threonine Phosphatase Interacting Protein 2), and among its related pathways/superpathways are Innate Immune System and Cytokine Signaling in Immune system. The drugs Pamidronic acid and Diphosphonates have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and bone marrow, and related phenotypes are arthralgia and chest pain

Common Targets
CDKAL1 | LOC105369735 | HLA-B

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