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GENATLAS PHENOTYPE
last update : 15-10-2012
Symbol WINCH1
Location 16q12.2
Name Winchester syndrome 1
Other name(s)
  • multicentric osteolysis, nodulosis, and arthropathy
    • Corresponding gene MMP2
    Other symbol(s) MONA
    Main clinical features
  • vanishing bone syndrome
  • characterized by short stature, severe joint contractures, peripheral corneal opacities, coarsened facies, dissolution of carpal and tarsal bones, and generalized osteoporosis
    • Genetic determination autosomal recessive
    Function/system disorder osteo-articular
    Type disease
    Gene product
    Name matrix metalloproteinase 2
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function changing a key aminoacid in the catalytic domain
    Remark(s)