ORPHA:510
Lesch-Nyhan syndrome
Also known as: HPRT complete deficiency · HPRT deficiency grade IV · Hypoxanthine guanine phosphoribosyltransferase complete deficiency · Hypoxanthine guanine phosphoribosyltransferase deficiency, grade IV
Publications
3,047
92th percentile
Trials
1
Interventional, condition-specific
Researchers
993
Distinct authors in sample
Gene link
HPRT1
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency characterized by uric acid overproduction, severe motor dysfunction, , and self-injurious behaviour (SIB).
How rare: 1-9 / 1 000 000 — roughly one to nine people per million. In a city the size of Kolkata, perhaps a few dozen.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0010298
- MeSH:D007926
- OMIM:300322
- UMLS:C0023374
- NCIT:C61255
Additional Mondo synonyms (8)
Lesch Nyhan Syndrome · Lesch-Nyhan syndrome, X-linked recessive · X-linked hyperuricemia · X-linked hyperuricemia (disorder) [ambiguous] · complete hypoxanthine-guanine phosphoribosyltransferase deficiency · deficiency of IMP pyrophosphorylase · hypoxanthine guanine phosphoribosyltransferase complete deficiency · hypoxanthine guanine phosphoribosyltransferase deficiency, grade IV
Research stages
Trial readiness signals
Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”
3/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedPresent
Definitive — HPRT1
- LiteraturePresent
3,047 matched papers (709 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialPresent
1 matched on ClinicalTrials.gov
Biology
Genes and phenotypes
Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.
Do we know what causes it?
Yes — we know a specific gene responsible (HPRT1).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
3,047
3,047 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
3,047 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
709 in the last 10 years · high confidence · 92th percentile (publications denominator)
Phrase hits: 3,047 · MeSH hits: 0
Who's working on it?
993
Distinct author names in 200 sampled papers — named people below.
Who's working on it?
People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.
- 01Jinnah HA9 papers · 2025
Departments of Neurology, Human Genetics, & Pediatrics, Emory University School of Medicine, Atlanta, Georgia.
Papers in Europe PMC - 02Dinasarapu AR4 papers · 2025
Department of Neurology, Emory University School of Medicine, Atlanta, Georgia, USA.
Papers in Europe PMC - 03Visser JE4 papers · 2025
Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands; Faculty of Science, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands; Department of Neurology, Amphia Hospital, Breda, The Netherlands. Electronic address: jasper.visser@radboudumc.nl.
Papers in Europe PMC - 04Kilic-Berkmen G3 papers · 2025
Department of Neurology, Emory University School of Medicine, Atlanta, Georgia, USA.
Papers in Europe PMC - 05Peng Q3 papers · 2024
Department of Radiology, Montefiore Medical Center, Albert Einstein College of Medicine, 111 East, 210th Street, Bronx, NY, 10467, USA.
Papers in Europe PMC - 06Perlmutter JS3 papers · 2025
Department of Neurology, Washington University School of Medicine, St. Louis, MO 63110, USA.
Papers in Europe PMC - 07Shapira J3 papers · 2026
Department of Pediatric Dentistry, The Hebrew University-Hadassah School of Dental Medicine, Jerusalem, Israel. shapiraj@cc.huji.ac.il.
Papers in Europe PMC - 08Sutcliffe DJ3 papers · 2025
Department of Neurology, Emory University School of Medicine, Atlanta, GA, USA.
Papers in Europe PMC - 09Zhang H3 papers · 2025
Department of Cardiovascular Medicine, Air Force Medical Center, Air Force Medical University, PLA, Beijing, China.
Papers in Europe PMC - 10Zhang K3 papers · 2025
Department of Pediatrics, Third Affiliated Hospital of Zhengzhou University, Zhengzhou, China.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
1
interventional trials for this specific condition
1 interventional trial matched this specific condition name; none in our sample are currently recruiting.
Data as of 27 July 2026
1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).
high confidence · 76.8th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
1 interventional trials matched after quoted-phrase search and title/condition post-filter.
No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.
Observational and natural-history studies
3 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.
Recruiting or not-yet-recruiting
- NCT06092346·RECRUITING·A Natural History Study Seeks to Understand the Clinical, Genomic, Pharmacological, Laboratory, and Dietary Determinates of Pyrimidine and Purine Metabolism Disorders
Conditions: AMPD3, OMIM*102772, AMP Deaminase Deficiency · AK1, OMIM *103000, Adenylate Kinase Deficiency · AMPD1, OMIM *102770, Myopathy Due to Myoadenylate Deaminase Deficiency · TPMT, OMIM *187680, Thoipurines, Poor Metabolism of·Matched via name phrase
- NCT06912841·ENROLLING BY INVITATION·Deep Brain Stimulation (DBS) MatchMaker
Conditions: TOR1A · PANK2 · HPRT1 · EIF2AK2·Matched via name phrase
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.
"Lesch-Nyhan syndrome" OR "HPRT complete deficiency" OR "HPRT deficiency grade IV" OR "Hypoxanthine guanine phosphoribosyltransferase complete deficiency" OR "Hypoxanthine guanine phosphoribosyltransferase deficiency, grade IV" OR "Lesch Nyhan Syndrome" OR "Lesch-Nyhan syndrome, X-linked recessive" OR "X-linked hyperuricemia" OR "X-linked hyperuricemia (disorder) [ambiguous]" OR "complete hypoxanthine-guanine phosphoribosyltransferase deficiency" OR "deficiency of IMP pyrophosphorylase" OR "deficiency of the IMP pyrophosphorylase"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Lesch-Nyhan syndrome" OR "HPRT complete deficiency" OR "HPRT deficiency grade IV" OR "Hypoxanthine guanine phosphoribosyltransferase complete deficiency" OR "Hypoxanthine guanine phosphoribosyltransferase deficiency, grade IV" OR "Lesch Nyhan Syndrome" OR "Lesch-Nyhan syndrome, X-linked recessive" OR "X-linked hyperuricemia" OR "X-linked hyperuricemia (disorder) [ambiguous]" OR "complete hypoxanthine-guanine phosphoribosyltransferase deficiency" OR "deficiency of IMP pyrophosphorylase" OR "deficiency of the IMP pyrophosphorylase" OR "HPRT1"
Recall-expansion terms: HPRT1
Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 1 interventional · 3 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-26T14:06:56.608Z