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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:0003593 | Infantile onset |
| HP:0000488 | Retinopathy |
| HP:0009830 | Peripheral neuropathy |
| HP:0001944 | Dehydration |
| HP:0000083 | Renal insufficiency |
| HP:0004950 | Peripheral arterial stenosis |
| HP:0001678 | Atrioventricular block |
| HP:0011506 | Choroidal neovascularization |
| HP:0002756 | Pathologic fracture |
| HP:0000007 | Autosomal recessive inheritance |
