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GENATLAS PHENOTYPE
last update : 04-02-2011
Symbol NS3
Location 12p12.1
Name Noonan syndrome 3
Corresponding gene KRAS
Other symbol(s) NS2
Main clinical features
  • typical heart defect, either pulmonary stenosis or cardiomyopathy, typical craniofacial anomalies including hypertelorism, downward slant of palpebral fissures and ptosis, short and webbed neck
  • others : short stature, psychomotor retardation or speech delay, bleeding diasthesis, thorax deformity, cubitus valgus, low-set ears, low posterior hairline, cryptorchidism, mental retardation
  • neoplastic risk, increased risk of juvenile myelomonocytic leukemia
    • Genetic determination autosomal dominant
    Prevalence 3.5 p100 of all cases
    Function/system disorder cardiovascular
    multisystem/generalized
    mental retardation
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense     V14I, frequent mutation
    Remark(s)