HRPT-related hyperuricemia

Term ID

DOID:0112127

Synonyms

• HPRT deficiency, grade I
• HPRT partial deficiency
• HPRT-related gout
• HPRT-related hyperuricemia
• HPRT1 partial deficiency
• hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency
• hypoxanthine guanine phosphoribosyltransferase deficiency, grade I
• hypoxanthine guanine phosphoribosyltransferase partial deficiency
• Kelley-Seegmiller syndrome

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. (2)

References

• OMIM:300323
• ORDO:79233

Ontology

Human Disease   ( DOID:0112127 )