Ghosal Syndrome

About the Disease
Ghosal Hematodiaphyseal Dysplasia, also known as ghosal syndrome, is related to camurati-engelmann disease and myelofibrosis. An important gene associated with Ghosal Hematodiaphyseal Dysplasia is TBXAS1 (Thromboxane A Synthase 1), and among its related pathways/superpathways are Transcription_Role of VDR in regulation of genes involved in osteoporosis and Type I collagen synthesis in the context of osteogenesis imperfecta. Affiliated tissues include bone, bone marrow and skin, and related phenotypes are craniofacial hyperostosis and bowing of the long bones

Common Targets
TBXAS1

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