Conditions / Genetic

primary hyperoxaluria type 3

info · Genetic · ICD-10: E72.538

A primary hyperoxaluria characterized by recurring calcium oxalate stones that has_material_basis_in homozygous or compound heterozygous mutation in the HOGA1 gene on chromosome 10q24.2.

Signs and symptoms

  • Hyperoxaluria
  • Calcium oxalate nephrolithiasis
  • Increased urine 4-hydroxy-2-oxoglutarate level

Also known as: HP3; PH III; primary hyperoxaluria type III