ORPHA:893
WAGR syndrome
Also known as: Del(11)(p13) · Deletion 11p13 · Monosomy 11p13 · Wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome
Publications
925
89.2th percentile
Trials
1
Interventional, condition-specific
Researchers
1,248
Distinct authors in sample
Gene link
—
Readiness
2/6
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.”
2/6 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
925 matched papers (448 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 (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)
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?
925
925 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.
925 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).
448 in the last 10 years · medium confidence · 89.2th percentile (publications denominator)
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 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).
medium 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.
- NCT06740162·RECRUITING·Physical Activity and Community EmPOWERment Project
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
Conditions: Rare Disorders · Undiagnosed Disorders · Disorders of Unknown Prevalence · Cornelia De Lange Syndrome
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.
"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"
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
Ingested 2026-07-26T15:48:13.364Z