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