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References OMIM Gene GeneReviews HGMD HGNC
last update : 18-08-2010
Symbol TAPVR1
Location 4q12
HGNC id 11567
Name total anomalous pulmonary venous return, 1
Other name(s)
  • anomalous pulmonary venous return
  • Scimitar syndrome
  • Corresponding gene PDGFRA
    Other symbol(s) APVR1, APVR
    Main clinical features cyanotic form of congenital heart defect, the pulmonary veins fail to enter the left atrium and instead drain into the right atrium or one of the venous tributaries
    Genetic determination autosomal dominant
    Prevalence 1/150000 live births
    Function/system disorder cardiovascular
    Type susceptibility factor
    Gene product
    Name platelet-derived growth factor receptor, alpha polypeptide