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GENATLAS PHENOTYPE
last update : 24-09-2010
Symbol PHXL3
Location 10q24.1
Name hyperoxaluria, primary, type III
Corresponding gene HOGA1
Main clinical features
  • characterized by accumulation of calcium oxalate primarily in the kidney
  • nephrolithiasis, nephrocalcinosis leading to oxalosis and sometimes to renal failure and systemic oxalate deposition, in infancy, hematuria, pain, and/or urinary tract infection
  • Genetic determination autosomal recessive
    Function/system disorder metabolism/aminoacids
    Type disease
    Remark(s) . Inhibitors of 4-hydroxy-2-oxoglutarate aldolase encoded by this gene should be the optimal treatment for children with this form (PMID: 20797690))