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primary hyperoxaluria type 1
Summary
- Synonym
-
- HP1
- alanine-glyoxylate aminotransferase deficiency
- glycolic aciduria
- hepatic AGT deficiency
- oxalosis I
- peroxisomal alanine-glyoxylate aminotransferase deficiency
- serine pyruvate aminotransferase deficiency
- 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.
- Super Class
- primary hyperoxaluria
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001297 | Stroke |
| HP:0003774 | Stage 5 chronic kidney disease |
| HP:0000787 | Nephrolithiasis |
| HP:0001942 | Metabolic acidosis |
| HP:0000121 | Nephrocalcinosis |
| HP:0003159 | Hyperoxaluria |
| HP:0000805 | Enuresis |
| HP:0012213 | Decreased glomerular filtration rate |
| HP:0001903 | Anemia |
| HP:0000010 | Recurrent urinary tract infections |
