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GENATLAS PHENOTYPE
last update : 07-11-2013
Symbol NFNS
Location 17q11.2
Name Noonan-neurofibromatosis syndrome
Other name(s) neurofibromatosis with Noonan phenotype
Corresponding gene NF1
Main clinical features
  • short stature, ptosis, midface hypoplasia, webbed neck, learning disabilities, and muscle weakness, mild mental retardation
  • Genetic determination not applicable
    Function/system disorder cardiovascular
    neurology
    dermatology
    Type disease
    Gene product
    Name neurofibromin
    Remark(s) Constitutive deregulation of the Ras pathway either through activating mutations of PTPN11 or through haploinsufficiency of neurofibromin, which acts as a Ras-inactivating GTP-ase, is probably the common pathogenetic mechanism explaining the phenotypic overlap of NS and NF1.