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GENATLAS PHENOTYPE
last update : 10-12-2010
Symbol PLA2G4AD
Location 1q31.1
Name PLA2G4A deficiency
Corresponding gene PLA2G4A
Main clinical features
  • prostanoid biosynthesis deficiency due to his multiple, complicated small intestinal ulcers
  • defective enzymatic release of the arachidonic acid substrate for the corresponding cyclooxygenase and lipoxygenases, with platelet dysfunction.
  • Genetic determination not applicable
    Function/system disorder metabolism/lipoprotein-lipid
    Type disease
    Remark(s)