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ORPHA:774

Hereditary hemorrhagic telangiectasia

medium confidenceDisorder

Also known as: HHT · Rendu-Osler disease · Rendu-Osler-Weber disease

Publications

8,582

96.9th percentile

Trials

52

Interventional, condition-specific

Researchers

1,126

Distinct authors in sample

Gene link

ACVRL1, ENG

Strong

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

An inherited disorder of angiogenesis characterized by mucocutaneous telangiectases and visceral arteriovenous malformations.

How rare: 1-5 / 10 000 — about one to five people per ten thousand (still uncommon, but less ultra-rare).

Orphanet entry

Cross-references

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

Additional Mondo synonyms (4)

Osler-Weber-Rendu disease · hereditary hemorrhagic telangiectasia · telangiectasia, hereditary Hemorrahagic, of Rendu, Osler · telangiectasia, hereditary hemorrhagic

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.”

3/6 stages with a signal

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

  1. Gene identifiedPresent

    Strong — ACVRL1, ENG

  2. LiteraturePresent

    8,582 matched papers (3,774 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 trialPresent

    52 matched on ClinicalTrials.gov (5 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 (ACVRL1, ENG).

GenCC classification: Strong.

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?

8,582

8,582 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=5449) is 41.

8,582 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).

3,774 in the last 10 years · medium confidence · 96.9th percentile (publications denominator)

Phrase hits: 8,582 · MeSH hits: 22

Open Europe PMC search

Who's working on it?

1,126

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
    Mathavan A10 papers · 2026

    Internal Medicine, University of Florida, Gainesville, Florida, USA.

    Papers in Europe PMC
  2. 02
    Dupuis-Girod S7 papers · 2026

    Service de génétique, centre de référence pour la maladie de Rendu-Osler, hospices civils de Lyon, hôpital Mère-Enfant, 69500 Bron, France.

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

    Division of Pulmonary, Critical Care, and Sleep Medicine, University of Florida Health, Gainesville, Florida, USA ali.ataya@medicine.ufl.edu.

    Papers in Europe PMC
  4. 04
    Haahr PD6 papers · 2026

    Gastroenterology and Hepatology, Odense Universitetshospital, Odense, Denmark Pernille.Darre.Haahr3@rsyd.dk.

    Papers in Europe PMC
  5. 05
    Kjeldsen AD6 papers · 2026

    Øre- Næse- Halsafdelingen, Odense Universitetshospital.

    Papers in Europe PMC
  6. 06
    Al-Samkari H5 papers · 2026

    Division of Hematology Oncology, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts, USA. Electronic address: hal-samkari@mgh.harvard.edu.

    Papers in Europe PMC
  7. 07
    Gaetani E5 papers · 2026

    Department of Translational Medicine and Surgery, Fondazione Policlinico Universitario A. Gemelli IRCCS Università Cattolica del Sacro Cuore, 00168, Rome, Italy.

    Papers in Europe PMC
  8. 08
    Kasthuri RS5 papers · 2026

    Division of Hematology/Oncology, University of North Carolina, Chapel Hill, North Carolina, USA.

    Papers in Europe PMC
  9. 09
    Riera-Mestre A5 papers · 2026

    HHT Unit. Hospital Universitari Bellvitge, Barcelona, Spain; Internal Medicine Department. Hospital Universitari Bellvitge, Barcelona, Spain; Bellvitge Biomedical Research Institute (IDIBELL), Barcelona, Spain; Clinical Sciences Department. Faculty of Medicine and Health Sciences. Universitat de Barcelona, Barcelona, Spain; Center for Biomedical Research in Obesity and Nutrition Physiopathology Network (CIBEROBN). Carlos III Health Institute, Madrid, Spain. Electronic address: ariera@bellvitgehospital.cat.

    Papers in Europe PMC
  10. 10
    Torres-Iglesias R5 papers · 2026

    HHT Unit. Hospital Universitari Bellvitge, Barcelona, Spain; Internal Medicine Department. Hospital Universitari Bellvitge, Barcelona, Spain; Bellvitge Biomedical Research Institute (IDIBELL), Barcelona, Spain.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

52

interventional trials for this specific condition

52 interventional trials matched this specific condition name; 5 currently recruiting in our sample.

Data as of 27 July 2026

52 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 97.1th percentile).

medium confidence · 97.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

31 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.

"Hereditary hemorrhagic telangiectasia" OR "Rendu-Osler disease" OR "Rendu-Osler-Weber disease" OR "Osler-Weber-Rendu disease" OR "telangiectasia, hereditary Hemorrahagic, of Rendu, Osler" OR "telangiectasia, hereditary Hemorrahagic, of the Rendu, Osler" OR "telangiectasia, hereditary hemorrhagic"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Telangiectasia, Hereditary Hemorrhagic

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

"Hereditary hemorrhagic telangiectasia" OR "Rendu-Osler disease" OR "Rendu-Osler-Weber disease" OR "Osler-Weber-Rendu disease" OR "telangiectasia, hereditary Hemorrahagic, of Rendu, Osler" OR "telangiectasia, hereditary Hemorrahagic, of the Rendu, Osler" OR "telangiectasia, hereditary hemorrhagic" OR "ACVRL1" OR "ENG"

Recall-expansion terms: ACVRL1, ENG

Interventional trials matched via: both, 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: 52 interventional · 31 observational · 0 expanded access. Only interventional studies enter the trial headline.

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

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: HHT

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

Ingested 2026-07-26T15:18:35.943Z