ORPHA:3222
Phosphoribosylpyrophosphate synthetase superactivity
Also known as: PRPP synthetase superactivity · PRPS1 superactivity
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
151
62.7th percentile
Trials
0
Interventional, condition-specific
Researchers
826
Distinct authors in sample
Gene link
PRPS1
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, and comprised of two forms: an early-onset severe form characterized by gout, urolithiasis, and neurodevelopmental anomalies and a mild late-onset form with no neurologic involvement.
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0010395
- MeSH:C567064
- OMIM:300661
- UMLS:C1970827
Additional Mondo synonyms (3)
gout, PRPS-related, X-linked recessive · phosphoribosylpyrophosphate synthetase superactivity · phosphoribosylpyrophosphate synthetase superactivity, X-linked recessive
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.”
2/6 stages with a signal
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Definitive — PRPS1
- LiteraturePresent
151 matched papers (80 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 trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
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 (PRPS1).
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?
151
151 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
151 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).
80 in the last 10 years · high confidence · 62.7th percentile (publications denominator)
Phrase hits: 151 · MeSH hits: 0
Who's working on it?
826
Distinct author names in 151 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Becker MA12 papers · 1995
Department of Medicine, University of Chicago, Illinois 60637, USA.
Papers in Europe PMC - 02Losman MJ5 papers · 1986Papers in Europe PMC
- 03Kim M4 papers · 1992Papers in Europe PMC
- 04Mammen AL4 papers · 2022
Muscle Disease Unit, Laboratory of Muscle Stem Cells and Gene Expression, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, 50 South Drive, Room 1146, Building 50, MSC 8024, Bethesda, MD, 20892, USA. andrew.mammen@nih.gov.
Papers in Europe PMC - 05Roelofsen J4 papers · 2020
Labratory of Genetic Metabolic Diseases, Academic Medical Center, Amsterdam, The Netherlands.
Papers in Europe PMC - 06Simmonds HA4 papers · 1994Papers in Europe PMC
- 07Sperling O4 papers · 1980Papers in Europe PMC
- 08Christodoulou J3 papers · 2012
Director and Genetics Theme/Group Co-Leader, Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Chair in Genomic Medicine, Department of Pædiatrics, University of Melbourne, Melbourne, Australia
Papers in Europe PMC - 09Micheli V3 papers · 2023
Istituto di Chimica Biologica, Universita' di Siena, Italy.
Papers in Europe PMC - 10van Bokhoven H3 papers · 2022
Department of Cognitive Neuroscience, Radboudumc, 6500 HB Nijmegen, The Netherlands.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
0
interventional trials for this specific condition
No interventional trial testing a treatment matched this specific condition name. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial.
Data as of 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
high confidence · 36.5th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Observational and natural-history studies
1 observational study matches 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
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.
"Phosphoribosylpyrophosphate synthetase superactivity" OR "PRPP synthetase superactivity" OR "PRPS1 superactivity" OR "gout, PRPS-related, X-linked recessive" OR "phosphoribosylpyrophosphate synthetase superactivity, X-linked recessive"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Phosphoribosylpyrophosphate synthetase superactivity" OR "PRPP synthetase superactivity" OR "PRPS1 superactivity" OR "gout, PRPS-related, X-linked recessive" OR "phosphoribosylpyrophosphate synthetase superactivity, X-linked recessive" OR "PRPS1"
Recall-expansion terms: PRPS1
Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase
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 2026-07-26T22:33:01.531Z