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ORPHA:284343

DICER1 tumor-predisposition syndrome

low confidenceDisorder

Also known as: PPB familial tumor and dysplasia syndrome · PPBFTDS · Pleuropulmonary blastoma familial tumor and dysplasia syndrome

Publications

1,441

Trials

0

Interventional, condition-specific

Researchers

1,258

Distinct authors in sample

Gene link

DICER1

Definitive

Readiness

2/6

Stages with a signal

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 (4)

DICER1 syndrome · PPB familial tumour susceptibility syndrome · pleuro-pulmonary blastoma familial tumour susceptibility syndrome · pleuropulmonary blastoma familial tumour susceptibility syndrome

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.

  1. Gene identifiedPresent

    Definitive — DICER1

  2. LiteraturePresent

    1,441 matched papers (1,120 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  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 (DICER1).

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?

1,441

1,441 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.

1,441 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).

1,120 in the last 10 years · low confidence

Phrase hits: 1,441 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,258

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.

  1. 01
    Foulkes WD16 papers · 2026

    Department of Human Genetics, McGill University, 3640 Rue University, Room W-315D, Montreal, QC, H3A 0C7, Canada.

    Papers in Europe PMC
  2. 02
    Chong AL6 papers · 2025

    Department of Human Genetics, McGill University, Montreal, QC, Canada.

    Papers in Europe PMC
  3. 03
    Nosé V6 papers · 2026

    Department of Pathology, Harvard Medical School, Massachusetts General Hospital, Boston, Massachusetts, USA.

    Papers in Europe PMC
  4. 04
    Sabbaghian N6 papers · 2025

    Lady Davis Institute for Medical Research, Jewish General Hospital, Montreal, Québec, Canada.

    Papers in Europe PMC
  5. 05
    Hill DA5 papers · 2024

    Division of Pathology, Center for Genetic Medicine Research, Children's National Health System, Washington, District of Columbia, USA.

    Papers in Europe PMC
  6. 06
    Schultz KAP5 papers · 2025

    International Pleuropulmonary Blastoma/DICER1 Registry.

    Papers in Europe PMC
  7. 07
    Wang Y5 papers · 2026

    Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, BC, Canada.

    Papers in Europe PMC
  8. 08
    Chen KS4 papers · 2026

    Department of Pediatrics, UT Southwestern Medical Center, Dallas, Texas, USA.

    Papers in Europe PMC
  9. 09
    de Kock L4 papers · 2023

    Department of Human Genetics, McGill University, 3640 Rue University, Room W-315D, Montreal, QC, H3A 0C7, Canada.

    Papers in Europe PMC
  10. 10
    Dehner LP4 papers · 2024

    Lauren V. Ackerman Laboratory of Surgical Pathology, Department of Pathology and Immunology, Washington University School of Medicine, St Louis, Missouri, USA.

    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. 5 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

5 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

Open the complete matched search on ClinicalTrials.gov

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 2026-07-26

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.

"DICER1 tumor-predisposition syndrome" OR "PPB familial tumor and dysplasia syndrome" OR "PPBFTDS" OR "Pleuropulmonary blastoma familial tumor and dysplasia syndrome" OR "DICER1 syndrome" OR "PPB familial tumour susceptibility syndrome" OR "pleuro-pulmonary blastoma familial tumour susceptibility syndrome" OR "pleuropulmonary blastoma familial tumour susceptibility syndrome"

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"DICER1 tumor-predisposition syndrome" OR "PPB familial tumor and dysplasia syndrome" OR "PPBFTDS" OR "Pleuropulmonary blastoma familial tumor and dysplasia syndrome" OR "DICER1 syndrome" OR "PPB familial tumour susceptibility syndrome" OR "pleuro-pulmonary blastoma familial tumour susceptibility syndrome" OR "pleuropulmonary blastoma familial tumour susceptibility syndrome" OR "DICER1"

Recall-expansion terms: DICER1

Study-type breakdown: 0 interventional · 5 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion

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 (1441) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T12:03:37.671Z