hypoxanthine guanine phosphoribosyltransferase partial deficiency
Findings
No curated finding names hypoxanthine guanine phosphoribosyltransferase partial deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Kelley-Seegmiller syndrome (KSS) is the mildest form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency, a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO) leading to urolithiasis, and early-onset gout.
Definition from the Mondo Disease Ontology (MONDO:0010299), read 2026-09-29. CC BY 4.0.
Features
17 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- DystoniaHPOHP:0001332
- Frequent (30% to 79% of cases)
- HyperuricemiaHPOHP:0002149
- Frequent (30% to 79% of cases)
- HyperuricosuriaHPOHP:0003149
- Frequent (30% to 79% of cases)
- Intellectual disabilityHPOHP:0001249
- Frequent (30% to 79% of cases)
- NephropathyHPOHP:0000112
- Frequent (30% to 79% of cases)
- Abnormality of extrapyramidal motor functionHPOHP:0002071
- Occasional (5% to 29% of cases)
- Abnormality of the nervous system
Show the remaining 5
- HyperreflexiaHPOHP:0001347
- Occasional (5% to 29% of cases)
- Macroscopic hematuriaHPOHP:0012587
- Occasional (5% to 29% of cases)
- Renal insufficiencyHPOHP:0000083
- Occasional (5% to 29% of cases)
- SeizureHPOHP:0001250
- Occasional (5% to 29% of cases)
- Uric acid nephrolithiasisHPOHP:0000791
- Occasional (5% to 29% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- HPRT1HGNC:5157
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2021
- Strong · PanelApp Australia · X-linked · 2025
- Supportive · Orphanet · X-linked · 2021
Where it sits
Other names
9 names
Resolves to: hypoxanthine guanine phosphoribosyltransferase partial deficiency
- Also called
- HPRT deficiency, grade IHPRT partial deficiencyHPRT-related goutHPRT-related hyperuricemiaHPRT1 partial deficiencyhyperuricemia, HRPT-related, X-linked recessivehypoxanthine guanine phosphoribosyltransferase 1 partial deficiencyhypoxanthine guanine phosphoribosyltransferase deficiency, grade IKelley-Seegmiller syndrome