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primary hyperoxaluria type 2
Summary
- Synonym
-
- D-glycerate dehydrogenase deficiency
- HP2
- L-glyceric aciduria
- glyoxylate reductase/hydroxypyruvate reductase deficiency
- oxalosis II
- Definition
- A primary hyperoxaluria characterized by elevated urinary excretion of oxalate and L-glycerate, recurrent nephrolithiasis and nephrocalcinosis, and end-stage renal disease that has_material_basis_in homozygous or compound heterozygous mutation in the GRHPR gene on chromosome 9p13.2.
- Super Class
- primary hyperoxaluria
External Links
- Disease Ontology
- DOID:0111671
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- GARD
- MGI genotype (from TogoID)
- WikiPathways (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9UBQ7 | Glyoxylate reductase/hydroxypyruvate reductase |
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q91Z53 | Glyoxylate reductase/hydroxypyruvate reductase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000083 | Renal insufficiency |
| HP:0003159 | Hyperoxaluria |
| HP:0000010 | Recurrent urinary tract infections |
| HP:0006000 | Ureteral obstruction |
| HP:0000121 | Nephrocalcinosis |
| HP:0000787 | Nephrolithiasis |
| HP:0000790 | Hematuria |
| HP:0008672 | Calcium oxalate nephrolithiasis |
| HP:0000007 | Autosomal recessive inheritance |
