Van Buchem Disease (VBCH)

Van Buchem Disease(来自ICD-11)

别称:

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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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

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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