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GENATLAS PHENOTYPE
last update : 26-08-2010
Symbol NS7
Location 11q23.3
Name Noonan syndrome 7
Corresponding gene CBL
Main clinical features
  • facial dysmorphism, a wide spectrum of cardiac disease, reduced postnatal growth, and ectodermal and skeletal defects
  • broad forehead, hypertelorism, down-slanting palpebral fissures, and low-set, posteriorly rotated ears, a webbed and/or short neck, variable cognitive deficits, cryptorchidism, lymphatic dysplasias, bleeding tendency, and, rarely, predisposition to childhood hematologic malignancies
    • Genetic determination autosomal dominant
    Prevalence 5p100 of all cases
    Function/system disorder cardiovascular
    mental retardation
    dermatology
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function  
    Remark(s) . mutations were shown to affect CBL-mediated receptor ubiquitylation and dysregulate signal flow through RAS (PMID: 20619386))