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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:0004417 | Intermittent claudication |
| HP:0001138 | Optic neuropathy |
| HP:0011001 | Increased bone mineral density |
| HP:0000648 | Optic atrophy |
| HP:0002653 | Bone pain |
| HP:0100758 | Gangrene |
| HP:0000965 | Cutis marmorata |
| HP:0008672 | Calcium oxalate nephrolithiasis |
