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ENVan Buchem Disease (VBCH)
Alias:
Hyperostosis Corticalis Generalisata
Hyperphosphatasemia Tarda
Sost-Related Sclerosing Bone Dysplasia
Sclerosteosis
Vbch
Hyperotosis Corticalis Generalisata Familiaris
Endosteal Hyperostosis, Autosomal Recessive
Endosteal Hyperostosis Autosomal Recessive
Sost Sclerosing Bone Dysplasia
Smith-Lemli-Opitz Syndrome
Disease, Van Buchem
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Van Buchem Disease, also known as hyperostosis corticalis generalisata, is related to sclerosteosis 1 and sclerosteosis 2, and has symptoms including constipation, seizures and vomiting. An important gene associated with Van Buchem Disease is SOST (Sclerostin), and among its related pathways/superpathways are Signal Transduction and ERK Signaling. The drugs Simvastatin and Benzocaine have been mentioned in the context of this disorder. Affiliated tissues include bone and spinal cord, and related phenotypes are mandibular prognathia and abnormal cortical bone morphology
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