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References OMIM Gene GeneReviews HGMD HGNC
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
    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.