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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.