Lesch-Nyhan syndrome
Findings
No curated finding names Lesch-Nyhan syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Lesch-Nyhan syndrome (LNS) is the most severe form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency, a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO), neurological troubles, and behavioral problems.
Definition from the Mondo Disease Ontology (MONDO:0010298), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked recessive inheritance
- Onset and course
- Infantile onset · Juvenile onset · Young adult onset · Childhood onset
HPO, annotations 2026-09-02
Features
18 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.
- Global developmental delayHPOHP:0001263
- 23 of 23 reported patients
- HyperuricemiaHPOHP:0002149
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- Intellectual disabilityHPOHP:0001249
- 2 of 2 reported patients
- Poor head controlHPOHP:0002421
- 1 of 1 reported patient
- Self-injurious behaviorHPO · MondoHP:0100716
- 18 of 20 reported patients
- Abnormality of movementHPOHP:0100022
- Very frequent (80% to 99% of cases)
Show the remaining 6
- NephrocalcinosisHPOHP:0000121
- 13 of 17 reported patients
- AnemiaHPOHP:0001903
- Frequent (30% to 79% of cases)
- HematuriaHPOHP:0000790
- Frequent (30% to 79% of cases)
- Renal insufficiencyHPOHP:0000083
- Frequent (30% to 79% of cases)
- Hip dislocationHPOHP:0002827
- 5 of 20 reported patients
- SeizureHPOHP:0001250
- 1 of 20 reported patients
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
- Definitive · Ambry Genetics · X-linked · 2018
- Definitive · ClinGen · X-linked · 2022
- Definitive · G2P · X-linked · 2019
- Definitive · Natera · X-linked · 2023
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2022
- Strong · PanelApp Australia · X-linked · 2025
- Supportive · Orphanet · X-linked · 2021
Where it sits
- Narrower terms (1)
Other names
10 names
Resolves to: Lesch-Nyhan syndrome
- Also called
- complete hypoxanthine-guanine phosphoribosyltransferase deficiencydeficiency of IMP pyrophosphorylaseHPRT complete deficiencyHPRT deficiency grade IVhypoxanthine guanine phosphoribosyltransferase complete deficiencyhypoxanthine guanine phosphoribosyltransferase deficiency, grade IVLesch Nyhan SyndromeLesch-Nyhan syndrome, X-linked recessiveX-linked hyperuricemiaX-linked hyperuricemia (disorder) [ambiguous]