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GENATLAS PHENOTYPE
last update : 15-03-2010
Symbol HVB
Location 17q12-q21.1
Name hyperostosis corticalis generalisata
Other name(s)
  • Van Buchem disease
  • hyperphosphatasemia tarda
  • endosteal hyperostosis, autosomal recessive
    • Corresponding gene SOST
    Other symbol(s) VBCH
    Main clinical features overgrowth of the mandible
    Genetic determination autosomal recessive
    Function/system disorder osteo-articular
    Type disease
    Remark(s) . deletion of a SOST-specific regulatory element, 52-kb deleltion, located approximately 35 kb downstream of the SOST gene, leading to HVB (Balemans 2002)