ORPHA:893
WAGR syndrome
Also known as: Del(11)(p13) · Deletion 11p13 · Monosomy 11p13 · Wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome
Publications
1,350
Trials
1
Interventional, condition-specific
Researchers
1,248
Distinct authors in sample
Gene link
—
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare genetic disorder characterized by the association of complete or partial aniridia (and associated eyes abnormalities), genitourinary anomalies (ranging from sexual ambiguity to ectopic testis), variable degrees of and an increased risk of developing Wilms tumors. A minority of patients develop kidney failure. Other variable findings may include obesity and duplicated halluces.
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0008681
- MeSH:D017624
- OMIM:194072
- UMLS:C0206115
- NCIT:C3718
Additional Mondo synonyms (9)
11p partial monosomy syndrome · WAGR 11p13 deletion syndrome · WAGR Syndrome/11p Deletion Syndrome · Wilms tumor, aniridia, genitourinary anomalies and developmental delay syndrome · Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome, autosomal dominant, somatic mutation · Wilms tumor-aniridia-genitourinary anomalies-mental retardation syndrome · chromosome 11p13 deletion syndrome · deletion 11p13 · monosomy 11p13
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 identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
1,350 matched papers (616 in last 10 years) Source
- Phenotype characterisedPresent
64 HPO annotations (e.g. Ambiguous genitalia; Everted lower lip vermilion; Ptosis) Source
- 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 trialPresent
1 matched on ClinicalTrials.gov (1 recruiting in sample)
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)
64
Associated phenotypes · MONDO:0008681
- Ambiguous genitalia
- Everted lower lip vermilion
- Ptosis
- Microcephaly
- Hearing abnormality
Showing 5 of 64 — 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?
1,350
1,350 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.
1,350 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).
616 in the last 10 years · low confidence
Phrase hits: 925 · MeSH hits: 0
Who's working on it?
1,248
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.
- 01Kutsev SI6 papers · 2023
Federal State Budgetary Institution 'Research Center for Medical Genetics', Moscow, Russian Federation.
Papers in Europe PMC - 02Marakhonov AV6 papers · 2023
Federal State Budgetary Institution 'Research Center for Medical Genetics', Moscow, Russian Federation.
Papers in Europe PMC - 03Vasilyeva TA6 papers · 2023
Federal State Budgetary Institution 'Research Center for Medical Genetics', Moscow, Russian Federation.
Papers in Europe PMC - 04Zinchenko RA6 papers · 2023
Federal State Budgetary Institution 'Research Center for Medical Genetics', Moscow, Russian Federation.
Papers in Europe PMC - 05Graf N5 papers · 2025
Department of Pediatric Hematology and Oncology, Saarland University Hospital, Homburg, Germany.
Papers in Europe PMC - 06Han JC5 papers · 2026
Unit on Metabolism and Neuroendocrinology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institute of Health, Bethesda, MD, 20892, USA.
Papers in Europe PMC - 07Kalish JM5 papers · 2026
Division of Human Genetics and Center for Childhood Cancer Research, Children's Hospital of Philadelphia, Philadelphia, PA, United States.
Papers in Europe PMC - 08Sukhanova NV5 papers · 2023
Central Clinical Hospital of the Russian Academy of Sciences, Moscow, Russian Federation.
Papers in Europe PMC - 09Trout KL5 papers · 2026
International WAGR Syndrome Association, Montgomery Village, MD, United States.
Papers in Europe PMC - 10Bremond-Gignac D4 papers · 2026
Service d'ophtalmologie, hôpital Necker Enfants-malades, AP-HP, centre de maladies rares OPHTARA, université Paris-Descartes, université Sorbonne-Paris-Cité, Paris, France. Unité CNRS FR3636, université Paris-Descartes, université Sorbonne-Paris-Cité, Paris, France. Coordonnateur du Centre OPHTARA maladies rares en Ophtalmologie, Centre Européen ERN EYE. Présidente du CMS Geniris et Aniridia Europe.
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; 1 currently recruiting in our sample.
Data as of 11 September 2026
1 interventional trial — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 80.1th percentile).
low confidence · 80.1th 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.
- NCT06740162·RECRUITING·Physical Activity and Community EmPOWERment Project
Not reviewed·Conditions: Intellectual Disability · Neurodevelopmental Disorders · Autism Spectrum Disorder · Down Syndrome·Matched via name phrase
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.
None of the matched observational studies is currently listed as recruiting.
General rare disease registries you may be eligible for
These studies enroll across many rare conditions. They are not counted as evidence that anyone is studying this specific disease.
- NCT01793168·RECRUITING·Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
Not reviewed·Conditions: Rare Disorders · Undiagnosed Disorders · Disorders of Unknown Prevalence · Cornelia De Lange Syndrome
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 WAGR 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.
("WAGR syndrome" OR "Del(11)(p13)" OR "Deletion 11p13" OR "Monosomy 11p13" OR "Wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome" OR "11p partial monosomy syndrome" OR "WAGR 11p13 deletion syndrome" OR "WAGR Syndrome/11p Deletion Syndrome" OR "Wilms tumor, aniridia, genitourinary anomalies and developmental delay syndrome" OR "Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome, autosomal dominant, somatic mutation" OR "Wilms tumor-aniridia-genitourinary anomalies-mental retardation syndrome" OR "chromosome 11p13 deletion syndrome") OR ("WAGR" OR "WAGR-related")ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"WAGR syndrome" OR "Del(11)(p13)" OR "Deletion 11p13" OR "Monosomy 11p13" OR "Wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome" OR "11p partial monosomy syndrome" OR "WAGR 11p13 deletion syndrome" OR "WAGR Syndrome/11p Deletion Syndrome" OR "Wilms tumor, aniridia, genitourinary anomalies and developmental delay syndrome" OR "Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome, autosomal dominant, somatic mutation" OR "Wilms tumor-aniridia-genitourinary anomalies-mental retardation syndrome" OR "chromosome 11p13 deletion syndrome"
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 · 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 short or not clearly distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
- Publication count (1350) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity
Ingested 2026-07-26T15:48:13.364Z