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References OMIM Gene GeneReviews HGMD HGNC
last update : 03-12-2011
Symbol ECDM2
Location 12q24.1
Name metachondromatosis 2
Other name(s)
  • Upington disease
  • enchondromata
  • ecchondromata
  • Corresponding gene PTPN11
    Main clinical features
  • dyschondroplasia, with combined exostosis and enchondromatosis tumor syndrome
  • Genetic determination autosomal dominant
    Function/system disorder osteo-articular
    Type disease
    Remark(s) . heterozygous loss-of-function mutations in PTPN11 are a frequent cause of metachondromatosis