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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:0002621 | Atherosclerosis |
| HP:0000790 | Hematuria |
| HP:0011021 | Abnormal circulating enzyme concentration |
| HP:0001508 | Failure to thrive |
| HP:0100518 | Dysuria |
| HP:0000924 | Abnormality of the skeletal system |
| HP:0003761 | Calcinosis |
| HP:0000164 | Abnormality of the dentition |
| HP:0001939 | Abnormality of metabolism/homeostasis |
| HP:0001063 | Acrocyanosis |
