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GENATLAS PHENOTYPE
last update : 11-10-2011
Symbol ECDMM1
Location 3p21.3
Name enchondromatosis, multiple 1
Other name(s)
  • Ollier disease
  • Maffucci disease
  • dyschondroplasia
    • Corresponding gene PTH1R
    Main clinical features
  • enchondromas skeletal deformity and potential malignant change to osteosarcoma
  • these cartilaginous lesions have an asymmetric distribution, but important variability is seen in the age of onset of the disease and the size, number, location and evolution of the enchondromas
  • exclusively localized in the metaphysis of long bones and in the small bones of the hands and feet
  • nonhereditary skeletal disorders characterized by the presence of multiple enchondromas with (Maffucci) or without (Ollier) co-existing multiple hemangiomas of soft tissue (PMID: 21584901))
    • Genetic determination autosomal dominant
    Function/system disorder osteo-articular
    Type disease
    Gene product
    Name parathyroid hormone receptor 1
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function  
    Remark(s) mutations impairing PTHR1 function by reducing either the affinity of the receptor for PTH or the receptor expression at the cell surface