RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:157791

Epithelioid hemangioendothelioma

low confidenceDisorder

Also known as: EHE

Publications

7,439

Trials

9

Interventional, condition-specific

Researchers

1,026

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

A rare vascular tumor characterized by a wide clinical variability ranging from indolent to locally aggressive behavior with a high metastatic potential. The tumor may arise anywhere in the body, most commonly in the lungs, liver and bones. Histologically, it is composed of epithelioid endothelial cells arranged in short cords and nests in a myxohyaline stroma, and molecularly, it is characterized by WWTR1-CAMTA1 (approximately 90%) or YAP1-TFE3 (approximately 10%) gene fusions. Rarely, other fusion genes are found.

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)

epithelioid angioendothelioma · epithelioid angiosarcoma · epithelioid hemangioendothelioma · malignant epithelioid hemangioendothelioma

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.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    7,439 matched papers (4,202 in last 10 years) Source

  3. Phenotype characterisedNot found

    No HPO disease–phenotype associations via Monarch for these Mondo IDs

  4. Animal modelNot found

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

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialPresent

    9 matched on ClinicalTrials.gov (4 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)

None returned for this Mondo ID. That often means “not linked under this ID,” not “no clinical features.”

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

5

Drugs / clinical candidates · MONDO_0015523

CTD chemicals (MyDisease.info)

1 associated chemical · 25 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Silicones · marker/mechanism

Pathways: Cytokine-cytokine receptor interaction; PI3K-Akt signaling pathway; Toll-like receptor signaling pathway; NOD-like receptor signaling pathway; RIG-I-like receptor signaling pathway; Cytosolic DNA-sensing pathway; Jak-STAT signaling pathway; Natural killer cell mediated cytotoxicity

MyDisease.info · MONDO:0015523

Literature

Is anyone studying this?

7,439

7,439 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.

7,439 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).

4,202 in the last 10 years · low confidence

Phrase hits: 7,438 · MeSH hits: 8

Open Europe PMC search

Who's working on it?

1,026

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
    Wang J5 papers · 2026

    Department of Radiology, The Affiliated Hospital of Southwest Medical University, No.25, Taiping Road, Jiangyang District, Luzhou, 646000, Sichuan, China.

    Papers in Europe PMC
  2. 02
    Chen Y4 papers · 2026

    Department of Ultrasound, Zhongshan Hospital, Fudan University, Xuhui District, Shanghai, China.

    Papers in Europe PMC
  3. 03
    Wang H4 papers · 2026

    Department of Ultrasound, Zhongshan Hospital, Fudan University, 180th Fengling Rd, Xuhui District, Shanghai, 200032, China.

    Papers in Europe PMC
  4. 04
    Wang Y4 papers · 2026

    Department of Gastroenterology, The Second Hospital of Hebei Medical University, Hebei Key Laboratory of Gastroenterology, Hebei Institute of Gastroenterology, Hebei Clinical Research Center for Digestive Diseases, Shijiazhuang, Hebei Province, China.

    Papers in Europe PMC
  5. 05
    Xu Y4 papers · 2026

    Department of Ultrasound, Zhongshan Hospital, Fudan University, 180th Fengling Rd, Xuhui District, Shanghai, 200032, China.

    Papers in Europe PMC
  6. 06
    Ye L4 papers · 2026

    Department of Radiology, The Second People's Hospital of Quzhou, Quzhou, China.

    Papers in Europe PMC
  7. 07
    Li X3 papers · 2026

    Department of Interventional Ultrasound, Senior Department of Oncology, The Fifth Medical Center of PLA General Hospital, Beijing, China.

    Papers in Europe PMC
  8. 08
    Michal M3 papers · 2025

    Department of Pathology, Faculty of Medicine in Pilsen, Charles University, Prague.

    Papers in Europe PMC
  9. 09
    Sun J3 papers · 2026

    Department of Andrology, No.2 People's Hospital of Fuyang, No. 1088, Yinghe West Road, Yingquan District, Fuyang, Anhui, China.

    Papers in Europe PMC
  10. 10
    Sun Y3 papers · 2026

    Department of Ophthalmology, The Third People's Hospital of Chengdu, Chengdu, Sichuan, China.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

9

interventional trials for this specific condition

9 interventional trials matched this specific condition name; 4 currently recruiting in our sample. 15 trials are registered for hemangioendothelioma, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 11 September 2026

9 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 92th percentile).

low confidence · 92th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Broader category: hemangioendothelioma

15

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Worth raising with a clinician. How we count trials.

Recruiting under the broader category

Observational and natural-history studies

2 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 1 · after dedupe 1 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 1 · dropped 0 · fetched 2026-07-30

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 (1)

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 Epithelioid hemangioendothelioma — 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.

"Epithelioid hemangioendothelioma" OR "epithelioid angioendothelioma" OR "epithelioid angiosarcoma" OR "malignant epithelioid hemangioendothelioma"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Hemangioendothelioma, Epithelioid

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

"Epithelioid hemangioendothelioma" OR "epithelioid angioendothelioma" OR "epithelioid angiosarcoma" OR "malignant epithelioid hemangioendothelioma" OR "Hemangioendothelioma, Epithelioid"

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: 9 interventional · 2 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"hemangioendothelioma"

Query health: ok — strategies attempted: phrase, mesh; with hits: phrase, mesh

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: EHE

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (7439) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T07:59:07.925Z