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GENATLAS PHENOTYPE
last update : 05-02-2014
Symbol NAO
Location 16q12.2
Name multicentric osteolysis, nodulosis and arthropathy (vanishing bone)
Other name(s)
  • nodulosis-arthropathy-osteolysis syndrome
  • MOA syndrome (multicentric osteolysis with arthritis )
  • osteolysis, idiopathic, Saudi type
  • Al Aqeel-Sewairi Syndrome
  • NAO syndrome
    • Corresponding gene MMP2
    Other symbol(s) MONA
    Main clinical features
  • osteolysis syndrome with carpal and tarsal resorption, crippling arthritic changes, marked osteoporosis, palmar and plantar subcutaneoux nodules and distinctive facies, including proptosis, frontal bossing, hypertelorism, brachycephaly and a bulbous nose with flattened nasal bridge
  • associated to congenital heart defects in any cases (Tuysuz 2009)
    • Genetic determination autosomal recessive
    Related entries . including Torg syndrome (OMIM: 259600), with fusiform enlargement of the digits and flexion contractures of the knees, hip, and elbows
    Function/system disorder osteo-articular
    Type disease
    Gene product
    Name matrix metalloproteinase 2
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    various types   abnormal protein/loss of function disrupts skeletal and craniofacial development and results in decreased bone mineralization, joint erosion and defects in osteoblast and osteoclast growth
    Remark(s)
    Genotype/Phenotype correlations frameshift mutation deleting the terminal half of the MMP2 hemopexin domain, a region important in substrate binding and specificity, associated to form with congenital heart defect