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HRPT-related hyperuricemia
Summary
- Synonym
-
- HPRT deficiency, grade I
- HPRT partial deficiency
- HPRT-related gout
- HPRT-related hyperuricemia
- HPRT1 partial deficiency
- Kelley-Seegmiller syndrome
- hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency
- hypoxanthine guanine phosphoribosyltransferase deficiency, grade I
- hypoxanthine guanine phosphoribosyltransferase partial deficiency
- Definition
- A hyperuricemia characterized by excessive purine production often resulting in renal stones, uric acid nephropathy, and renal obstruction that has_material_basis_in hemizygous mutation in the HPRT1 gene on chromosome Xq26.2-q26.3.
- Super Class
- X-linked recessive disease hyperuricemia inherited metabolic disorder
External Links
- Disease Ontology
- DOID:0112127
- Mondo Disease Ontology
- ORDO
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001919 | Acute kidney injury |
| HP:0000707 | Abnormality of the nervous system |
| HP:0003149 | Hyperuricosuria |
| HP:0001250 | Seizure |
| HP:0012587 | Macroscopic hematuria |
| HP:0001332 | Dystonia |
| HP:0000791 | Uric acid nephrolithiasis |
| HP:0002071 | Abnormality of extrapyramidal motor function |
| HP:0001854 | Podagra |
| HP:0000787 | Nephrolithiasis |
