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References OMIM Gene GeneReviews HGMD HGNC
last update : 14-10-2011
Symbol PRV
Location 9p24.1
Name polycythemia rubra vera
Other name(s) polycythemia vera
Main clinical features
  • myeloproliferative disorder that, in most cases, occurs sporadically with a median age of 60 years, essential thrombocythemia, and idiopathic myelofibrosis, complicated with Budd Chiari syndrome
  • characterized by obstruction and occlusion of the suprahepatic veins, a rare but typical complication in polycythemia vera
  • Genetic determination autosomal recessive
    Related entries Budd-Chiari syndrome (OMIM 600880)
    Function/system disorder hematology
    Type malignancy
    Gene mutationChromosome rearrangementEffectComments
    various types   abnormal protein/gain of function in exon 12
  • somatic mutations in JAK2
  • despite the phenotypical difference, the outcome of JAK2 exon 12 mutations-positive PRV is similar to that of JAK2 (V617F)-positive PRV (PMID: 21224469))