Version: 8.0.0
Date: Tue Jan 28 2025
primary hyperoxaluria type 1
DOID:0111670
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

primary hyperoxaluria type 1

Definition
A primary hyperoxaluria characterized by failure to transaminate glyoxylate resulting in accumulation of calcium oxalate in various tissues that has_material_basis_in homozygous or compound heterozygous mutation in the AGXT gene on chromosome 2q37.3.
Synonyms
  • alanine-glyoxylate aminotransferase deficiency
  • glycolic aciduria
Cross References
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