ORPHA:220
Denys-Drash syndrome
Also known as: Drash syndrome · Wilms tumor-DSD syndrome · Wilms tumor-disorder of sex development syndrome
Publications
1,082
Trials
0
Interventional, condition-specific
Researchers
1,250
Distinct authors in sample
Gene link
WT1
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare genetic, syndromic glomerular disorder characterized by the association of nephropathy presenting as persistent proteinuria or overt nephrotic syndrome, Wilms tumor and genitourinary structural defects. In addition, disorders of testicular development are common in subjects with 46,XY karyotype.
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:0008682
- MeSH:D030321
- OMIM:194080
- UMLS:C0950121
- NCIT:C84668
Additional Mondo synonyms (5)
Denys Drash syndrome · Denys-Drash syndrome, autosomal dominant, somatic mutation · Wilms tumor and pseudohermaphroditism · Wilms tumour and pseudohermaphroditism · nephrotic syndrome type 4
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 — WT1
- LiteraturePresent
1,082 matched papers (462 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 (WT1).
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?
1,082
1,082 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.
1,082 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).
462 in the last 10 years · low confidence
Phrase hits: 1,082 · MeSH hits: 0
Who's working on it?
1,250
Distinct author names in 200 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.
- 01Nozu K9 papers · 2025
Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Hyogo, Japan.
Papers in Europe PMC - 02
- 03
- 04Gessler M6 papers · 2025
Theosor-Boveri Institute/Biocenter and Comprehensive Cancer Center Mainfranken, University of Wuerzburg, Würzburg, Germany.
Papers in Europe PMC - 05Liu J6 papers · 2025
Department of Nephrology, Children's Hospital of Fudan University, National Pediatric Medical Center of CHINA, Shanghai, China; Shanghai Kidney Development and Pediatric Kidney Disease Research Center, Shanghai, China; Shanghai Key Lab of Birth Defect, Children's Hospital of Fudan University, Shanghai, China.
Papers in Europe PMC - 06Nagano C6 papers · 2025
Department of Pediatrics, Kobe University Graduate School of Medicine, 7-5-2 Kusunoki-cho, Chuo-ku, Kobe, Hyogo, 650-0017, Japan. china@med.kobe-u.ac.jp.
Papers in Europe PMC - 07Welter N6 papers · 2025
Department of Pediatric Oncology and Hematology, Saarland University, 66421 Homburg, Germany.
Papers in Europe PMC - 08Boyer O5 papers · 2025
Service de Néphrologie Pédiatrique, AP-HPH, Hôpital Necker-Enfants Malades, Paris, France.
Papers in Europe PMC - 09Dorval G5 papers · 2025
Laboratoire des Maladies Rénales Héréditaires, Inserm UMR 1163, Institut Imagine, Université Paris Cité, Paris, France; Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants Malades, Assistance Publique, Hôpitaux de Paris (AP-HP), Paris, France.
Papers in Europe PMC - 10Heidet L5 papers · 2025
Laboratoire des Maladies Rénales Héréditaires, Inserm UMR 1163, Institut Imagine, Université Paris Cité, Paris, France; Service de Néphrologie Pédiatrique Centre de Référence Maladies Rénales Héréditaires de l'Enfant et de l'Adulte (MARHEA), Hôpital Necker-Enfants Malades, Assistance Publique, Hôpitaux de Paris (AP-HP), Paris, France.
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. 3 observational studies 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.
low 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
3 observational studies match 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
- NCT07605884·NOT YET RECRUITING·Denys-Drash Syndrome and Risk of Post-transplant Lymphoproliferative Disorder
Conditions: Denys-Drash Syndrome·Matched via name phrase
- NCT06065852·RECRUITING·National Registry of Rare Kidney Diseases
Conditions: Adenine Phosphoribosyltransferase Deficiency · AH Amyloidosis · AHL Amyloidosis · AL Amyloidosis·Matched via name phrase
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.
"Denys-Drash syndrome" OR "Drash syndrome" OR "Wilms tumor-DSD syndrome" OR "Wilms tumor-disorder of sex development syndrome" OR "Wilms tumor-disorder of the sex development syndrome" OR "Denys Drash syndrome" OR "Denys-Drash syndrome, autosomal dominant, somatic mutation" OR "Wilms tumor and pseudohermaphroditism" OR "Wilms tumour and pseudohermaphroditism" OR "nephrotic syndrome type 4"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Denys-Drash syndrome" OR "Drash syndrome" OR "Wilms tumor-DSD syndrome" OR "Wilms tumor-disorder of sex development syndrome" OR "Wilms tumor-disorder of the sex development syndrome" OR "Denys Drash syndrome" OR "Denys-Drash syndrome, autosomal dominant, somatic mutation" OR "Wilms tumor and pseudohermaphroditism" OR "Wilms tumour and pseudohermaphroditism" OR "nephrotic syndrome type 4"
Study-type breakdown: 0 interventional · 3 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 (1082) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity
Ingested 2026-07-26T12:57:04.408Z