Home Page
References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 27-02-2013
Symbol PVNH4
Location Xq28
Name periventricular heterotopia 4, Ehlers-Danlos variant
Other name(s) periventricular nodular heterotopia 4
Corresponding gene FLNA
Other symbol(s) EDS-PNH
Main clinical features
  • focal seizures, irregular collagen fibrils, and aneurysms of the sinuses of Valsalva, agenesis of the posterior corpus callosum, enlarged cisterna magna, panacinar emphysema, and myocardial infarction associate to periventricular nodular heterotopia, on MRI
  • associated mainly with abnormal platelet morphology
    • Genetic determination sex linked
    Function/system disorder dermatology
    neurology
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense     A128V
    Remark(s)
  • mutations in FLNA may represent an unrecognized cause of macrothrombocytopenia with an altered platelet production and a modified platelet-vessel wall interaction (PMID: 21960593))