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ORPHA:873

Desmoid tumor

low confidenceDisorder

Also known as: Aggressive fibromatosis · Desmoid type fibromatosis

Publications

7,493

Trials

35

Interventional, condition-specific

Researchers

1,177

Distinct authors in sample

Gene link

APC

Definitive

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

A desmoid tumor (DT) is a benign, locally invasive soft tissue tumor associated with a high recurrence rate but with no metastatic potential.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (8)

aggressive fibromatosis · deep fibromatosis · deep fibromatosis/desmoid tumor · deep fibromatosis/desmoid tumour · desmoid fibromatosis · desmoid tumor · desmoid type fibromatosis · desmoid-type fibromatosis

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.”

5/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — APC

  2. LiteraturePresent

    7,493 matched papers (3,926 in last 10 years) Source

  3. Phenotype characterisedPresent

    24 HPO annotations (e.g. Intestinal obstruction; Abnormal retinal pigmentation; Gastrointestinal desmoid tumor) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationPresent

    4 FDA designations (4 FDA orphan-indication approvals) — e.g. sorafenib Source

  6. Interventional trialPresent

    35 matched on ClinicalTrials.gov (7 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?

Yes — we know a specific gene responsible (APC).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

24

Associated phenotypes · MONDO:0007608

  • Intestinal obstruction
  • Abnormal retinal pigmentation
  • Gastrointestinal desmoid tumor
  • Chest pain
  • Hydronephrosis

Showing 5 of 24 — 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)

4

Designations · 4 with FDA orphan-indication approval

  • FDA sorafenibdesmoid tumors · 2019-02-28 · Not FDA Approved for Orphan Indication
  • FDA nirogacestatDesmoid tumor · 2018-06-07 · Not FDA Approved for Orphan Indication
  • FDA tegavivintdesmoid tumors · 2018-04-11 · Not FDA Approved for Orphan Indication
  • FDA Toremifenedesmoid tumors · 1993-08-17 · Not FDA Approved for Orphan Indication

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

32

Drugs / clinical candidates · MONDO_0007608

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

7,493

7,493 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

7,493 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).

3,926 in the last 10 years · low confidence

Phrase hits: 7,493 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,177

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.

  1. 01
    Colombo C6 papers · 2026

    Department of Surgery, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy.

    Papers in Europe PMC
  2. 02
    Fiore M6 papers · 2026

    Department of Surgery, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy.

    Papers in Europe PMC
  3. 03
    Gronchi A6 papers · 2026

    Department of Surgery, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy.

    Papers in Europe PMC
  4. 04
    Wang X5 papers · 2026

    Department of Breast Surgery, National Cancer Center/National Clinical Research Center for Cancer/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.

    Papers in Europe PMC
  5. 05
    Wang Y5 papers · 2026

    Division of Gastrointestinal Surgery, Department of General Surgery, West China Hospital, Sichuan University, No 37, Guo Xue Xiang St, Chengdu, 610041, China.

    Papers in Europe PMC
  6. 06
    Bonvalot S4 papers · 2026

    Department of Surgical Oncology, Institut Curie, 26 rue d'Ulm, Paris 75005, France. Electronic address: sylvie.bonvalot@curie.fr.

    Papers in Europe PMC
  7. 07
    Kasper B4 papers · 2026

    Sarcoma Unit, University of Heidelberg, Mannheim University Medical Center, Mannheim Cancer Center (MCC), Theodor-Kutzer-Ufer 1-3, Mannheim D-68167, Germany.

    Papers in Europe PMC
  8. 08
    Baumgarten C3 papers · 2026

    SOS-Desmoid, e.V., SPAEN Sarcoma Patients EuroNet e.V, 61200 Wölfersheim, Germany.

    Papers in Europe PMC
  9. 09
    Eichler M3 papers · 2026

    National Center for Tumor Diseases (NCT/UCC) Dresden, Medical Faculty, Technical University Dresden, 01307 Dresden, Germany.

    Papers in Europe PMC
  10. 10
    Hoffmann R3 papers · 2026

    National Center for Tumor Diseases (NCT/UCC) Dresden, Medical Faculty, Technical University Dresden, 01307 Dresden, Germany.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

35

interventional trials for this specific condition

35 interventional trials matched this specific condition name; 7 currently recruiting in our sample.

Data as of 11 September 2026

35 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 96.3th percentile).

low confidence · 96.3th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

35 interventional trials matched after quoted-phrase search and title/condition post-filter.

Observational and natural-history studies

17 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

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 5 · after dedupe 5 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 5 · 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 (5)

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 Desmoid tumor — check Associations / patient organisations on that page.

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.

"Desmoid tumor" OR "Aggressive fibromatosis" OR "Desmoid type fibromatosis" OR "deep fibromatosis" OR "deep fibromatosis/desmoid tumor" OR "deep fibromatosis/desmoid tumour" OR "desmoid fibromatosis" OR "desmoid-type fibromatosis"

Run this search on Europe PMC

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

"Desmoid tumor" OR "Aggressive fibromatosis" OR "Desmoid type fibromatosis" OR "deep fibromatosis" OR "deep fibromatosis/desmoid tumor" OR "deep fibromatosis/desmoid tumour" OR "desmoid fibromatosis" OR "desmoid-type fibromatosis"

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: 35 interventional · 17 observational · 2 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 (7493) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-26T15:42:55.894Z