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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:0001263 | Global developmental delay |
| HP:0003259 | Elevated circulating creatinine concentration |
| HP:0000742 | Self-mutilation |
| HP:0001997 | Gout |
| HP:0000112 | Nephropathy |
| HP:0002149 | Hyperuricemia |
| HP:0001249 | Intellectual disability |
| HP:0100518 | Dysuria |
| HP:0001347 | Hyperreflexia |
| HP:0000083 | Renal insufficiency |
