ORPHA:3444
Watson syndrome
Also known as: Pulmonic stenosis with 'café-au-lait' spots
Publications
148
Trials
0
Interventional, condition-specific
Researchers
956
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
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.”
1/6 stages with a signal
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
148 matched papers (68 in last 10 years) Source
- Phenotype characterisedNot found
No HPO disease–phenotype associations via Monarch for these Mondo IDs
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- 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?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
Phenotypes (Monarch / HPO)
None returned for this Mondo ID. That often means “not linked under this ID,” not “no clinical features.”
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?
148
148 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=3967) is 59.
148 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).
68 in the last 10 years · low confidence
Phrase hits: 148 · MeSH hits: 0
Who's working on it?
956
Distinct author names in 148 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.
- 01Upadhyaya M9 papers · 2015
Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK.
Papers in Europe PMC - 02Huson SM7 papers · 2016
Kennedy-Galton Centre for Clinical Genetics, Northwick Park Hospital, Harrow.
Papers in Europe PMC - 03Digilio MC5 papers · 2020
Medical Genetics Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Papers in Europe PMC - 04Dallapiccola B4 papers · 2007Papers in Europe PMC
- 05De Luca A4 papers · 2020
CSS Hospital, IRCCS, San Giovanni Rotondo and CSS-Mendel Institute, Rome, Italy.
Papers in Europe PMC - 06Liu Y4 papers · 2023
Department of Genetics, Jiangxi Maternal and Child Health Hospital, 330006, Nanchang, China.
Papers in Europe PMC - 07Marino B4 papers · 2019
Department of Pediatrics, Sapienza University of Rome, 00161 Rome, Italy.
Papers in Europe PMC - 08Tartaglia M4 papers · 2019
Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy. marco.tartaglia@opbg.net.
Papers in Europe PMC - 09Amberger JS3 papers · 1994Papers in Europe PMC
- 10Babovic-Vuksanovic D3 papers · 2020
Medical Genetics, Mayo Clinic College of Medicine, Rochester, Minnesota.
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 on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).
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.
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 10 · after dedupe 10 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 10 · 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).
Uncertain / not reviewed (10)
- isrctn·ISRCTN38776134·Recruiting·A trial to evaluate the safety and efficacy of treatment with azacitidine in patients with symptomatic non-obstructive hypertrophic cardiomyopathy
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN36453355·No longer recruiting·A trial of different treatments on livers before transplantation
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN15211703·No longer recruiting·A trial of a clot-busting treatment in livers before transplantation
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN16739990·No longer recruiting·A feasibility study to test how effective is it to treat patients with mild psoriatic arthritis using only local steroid injections without being put onto more powerful arthritis drugs
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN11430110·No longer recruiting·Assessing the efficacy of emotion-focused therapy in the treatment of depression, anxiety and related disorders
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN76069316·No longer recruiting·The impact of cranberries on microbiome and brain in healthy ageing
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN31461655·No longer recruiting·A phase IV, open-label pilot study investigating non-invasive markers of hepatic fibrosis in people living with HIV-1 and non-alcoholic fatty liver disease randomised to receiving optimised background therapy (OBT) plus maraviroc or OBT
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN20381716·No longer recruiting·Rituximab in Graves' disease (RIGD)
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN47185691·No longer recruiting·The effectiveness of multidisciplinary treatment in young overweight children: GECKO outpatients clinic, a randomised controlled trial
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN59521990·No longer recruiting·A randomised controlled trial of colorectal polyp and cancer prevention using aspirin and resistant starch in carriers of hereditary nonpolyposis colorectal cancer
skipped — LLM skipped (--skip-llm)
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 Watson syndrome — check Associations / patient organisations on that page.
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.
"Watson syndrome" OR "Pulmonic stenosis with 'café-au-lait' spots"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Watson syndrome" OR "Pulmonic stenosis with 'café-au-lait' spots"
Study-type breakdown: 0 interventional · 0 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 short or not clearly distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
- No Orphanet definition and no Mondo IDs — likely taxonomy scaffolding; confidence capped at low
Ingested 2026-07-26T23:11:52.612Z