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GENATLAS PHENOTYPE
last update : 23-05-2012
Symbol ECYT2
Location 3p25.3
Name erythrocytosis/polycythemia, familial, 2
Other name(s)
  • Chuvash polycythemia
  • polycythemia, VHL-dependent
    • Corresponding gene VHL
    Other symbol(s) PCTBF
    Main clinical features
  • in russian people, and other countries
  • increased red blood cell mass and hematocrit, with high serum levels of erythropoietin (EPO) , normal oxygen affinity
  • thromboses, cerebrovascular accidents, pulmonary hypertension, vertebral hemangiomas
    • Genetic determination autosomal recessive
    Related entries ECYT1, ECYT2, ECYT3, ECYT4
    Function/system disorder hematology
    Type disease
    Gene product
    Name VHL is a negative regulator of HIF-alpha
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense     C598->T, mostly frequent mutation
    missense     A200T
    Remark(s)