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Start free with EleplanHypoxanthine guanine phosphoribosyltransferase partial deficiency
ORPHA:79233Disease
Also called 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
What it is
A rare hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency characterized by uric acid overproduction leading to urolithiasis, and early-onset gout, and a continuum spectrum of neurological manifestations, depending on the degree of the enzyme deficiency, without self-injurious behavior.
Key facts
- Age of onset
- All ages
- Inheritance
- X-linked recessive
- Classified as
- Disease
Signs and symptoms
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Gene
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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