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GENATLAS PHENOTYPE
last update : 20-11-2019
Symbol ORW1
Location 9q34.11
HGNC id 8501
Name Rendu-Osler-Weber disease 1
Other name(s)
  • hereditary hemorrhagic telangiectasia type 1
  • ORW disease
    • Corresponding gene ENG
    Other symbol(s) HHT, HHT1, ROW
    Main clinical features epistaxis with early onset, pulmonary arteriovenous malformations
    Genetic determination autosomal dominant
    Function/system disorder cardiovascular
    Type disease
    Gene product
    Name endoglin (ENG)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    insertion-deletion   truncated protein mostly leading to premature stop codons, associated with more affected organs and more severe hemorrhaging than were missense mutations
    missense   haploinsufficiency  
    Remark(s)