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
Displaying 1 entry
Gene ID Gene Symbol Description Source
3251 HPRT1 hypoxanthine phosphoribosyltransferase 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
15452 Hprt1 hypoxanthine phosphoribosyltransferase 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
24465 Hprt1 hypoxanthine phosphoribosyltransferase 1
The Human Phenotype Ontology
Displaying entries 11 - 20 of 21 in total
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
Displaying 1 entry
Gene ID Gene Symbol Description
3251 HPRT1 hypoxanthine phosphoribosyltransferase 1

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Last updated: August 19, 2024