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GENATLAS PHENOTYPE
last update : 14/03/07
Symbol CADO
Location 12p13.2
Name coronary artey disease with osteoporosis
Corresponding gene LRP6
Main clinical features
  • early coronary disease, metabolic syndrome (hyperlipidemia, hypertension, and diabetes), and osteoporosis
  • Genetic determination autosomal dominant
    Function/system disorder cardiovascular
    osteo-articular
    metabolism/lipoprotein-lipid
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function substitutes cysteine for arginine at a highly conserved residue of an epidermal growth factor-like domain, impairs Wnt signaling
    Remark(s)