You are not alone. Here is where to start: learn the basics, find a specialist or center that sees Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, look for clinical trials, and connect with others living with it — all in one place.
Open the full Partial hypoxanthine-guanine phosphoribosyltransferase deficiency hub →Partial hypoxanthine-guanine phosphoribosyltransferase deficiency is a rare condition. Also known as 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, Kelley-Seegmiller syndrome. Tomeko brings together the specialists, research, clinical trials, treatments and community for Partial hypoxanthine-guanine phosphoribosyltransferase deficiency so you can go from overwhelmed to oriented. For authoritative medical detail, see the reference sources below.
Identifiers: ORPHA:79233 · OMIM 300323 · ICD-10 E79.8 · GARD 0016710
Start by learning the basics from an authoritative source, find a specialist or center that sees Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, and connect with a patient organization. Tomeko brings these together on one hub.
Use Tomeko's specialist and Centers-of-Excellence directories to find clinicians who treat Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, filtered to your area.
Tomeko shows live, recruiting studies for Partial hypoxanthine-guanine phosphoribosyltransferase deficiency from ClinicalTrials.gov on the hub.