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GENATLAS PHENOTYPE
last update : 28-02-2015
Symbol ORW2
Location 12q13.13
HGNC id 8502
Name Rendu-Osler-Weber disease 2
Other name(s) hereditary hemorrhagic telangiectasia 2
Corresponding gene ACVRL1
Other symbol(s) HHT, HHT2
Main clinical features
  • angiogenic disorder characterized by an over-expression of VEGF, TGF-beta1 and ACVRL1
  • hepatic and spinal arteriovenous malformations and rarely pulmonary, with pulmonary hypertension, delayed onset
    • Genetic determination autosomal dominant
    Prevalence 70 p100 of of the Rendu-Osler disease
    Function/system disorder cardiovascular
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function mostly found in the intacellular kinase domain(in the exons 7 and 8)
    missense   truncated protein R479X causing truncation at the post-transcritional level
    Remark(s)
  • clustering of mutations in exons 3, 7, 8
  • defective trafficking and retention in the ER of mutant ACVRL1 protein is a possible mechanism of ORW2 in some patients (PMID: 23124896))