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GENATLAS PHENOTYPE
last update : 24-11-2010
Symbol FAN
Location 2q32.2
Name arterial aneurysms, familial
Other name(s) aortic dilatation/dissection
Corresponding gene COL3A1
Other symbol(s) AD
Main clinical features
  • arterial aneurysms and easy bruisability but without the usual changes of Ehlers-Danlos syndrome type IV
  • aortic dilatation/dissection
    • Genetic determination autosomal dominant
    Function/system disorder connective tissue
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
      deletion   hemizygous deletion of COL3A1, COL5A2, and MSTN causes a complex phenotype with aortic dissection (PMID: 20648054)
    Remark(s)