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GENATLAS PHENOTYPE
last update : 10-06-2011
Symbol HES1
Location 4q12
Name idiopathic hypereosinophilic syndrome 1
Corresponding gene PDGFRA
Main clinical features
  • rare hematologic disorder with sustained overproduction of eosinophils in the bone marrow, eosinophilia, tissue infiltration, and organ damage
  • more common in men than women (ratio of 9 to 1) and occurs predominantly between the ages of 20 and 50 years
  • Genetic determination not applicable
    Function/system disorder hematology
    Type disease
    Remark(s)
  • identification of fusion of the FIP1L1 gene to the PDGFRA gene, which was caused by an interstitial deletion on chromosome 4q12