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ORPHA:3222

Phosphoribosylpyrophosphate synthetase superactivity

low confidenceDisorder

Also known as: PRPP synthetase superactivity · PRPS1 superactivity

Publications

1,973

Trials

0

Interventional, condition-specific

Researchers

826

Distinct authors in sample

Gene link

PRPS1

Definitive

Readiness

3/6

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.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

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.”

3/6 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.

  1. Gene identifiedPresent

    Definitive — PRPS1

  2. LiteraturePresent

    1,973 matched papers (1,218 in last 10 years) Source

  3. Phenotype characterisedPresent

    87 HPO annotations (e.g. Intellectual disability; Peripheral neuropathy; Uric acid nephrolithiasis) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. 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)

87

Associated phenotypes · MONDO:0010395

  • Intellectual disability
  • Peripheral neuropathy
  • Uric acid nephrolithiasis
  • Hyperuricosuria
  • Hypotonia

Showing 5 of 87 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

1,973

1,973 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=3967) is 59.

1,973 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

1,218 in the last 10 years · low confidence

Phrase hits: 151 · MeSH hits: 0

Open Europe PMC search

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.

  1. 01
    Becker MA12 papers · 1995

    Department of Medicine, University of Chicago, Illinois 60637, USA.

    Papers in Europe PMC
  2. 02
    Losman MJ5 papers · 1986
    Papers in Europe PMC
  3. 03
    Kim M4 papers · 1992
    Papers in Europe PMC
  4. 04
    Mammen 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
  5. 05
    Roelofsen J4 papers · 2020

    Labratory of Genetic Metabolic Diseases, Academic Medical Center, Amsterdam, The Netherlands.

    Papers in Europe PMC
  6. 06
    Simmonds HA4 papers · 1994
    Papers in Europe PMC
  7. 07
    Sperling O4 papers · 1980
    Papers in Europe PMC
  8. 08
    Christodoulou 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
  9. 09
    Micheli V3 papers · 2023

    Istituto di Chimica Biologica, Universita' di Siena, Italy.

    Papers in Europe PMC
  10. 10
    van 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 11 September 2026 · last trial check 11 September 2026

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

low confidence · 38.6th 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

Open the complete matched search on ClinicalTrials.gov

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-29

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for Phosphoribosylpyrophosphate synthetase superactivity — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This 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") OR ("PRPS1" OR "PRPS1 syndrome" OR "PRPS1-related")

Run this search on Europe PMC

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"

Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase; 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
  • Publication count (1973) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-26T22:33:01.531Z