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ORPHA:60030

Loeys-Dietz syndrome

low confidenceDisorder

Also known as: Aortic aneurysm syndrome due to TGF-beta receptors anomalies

Publications

3,300

Trials

3

Interventional, condition-specific

Researchers

1,414

Distinct authors in sample

Gene link

SMAD2, TGFB3, TGFBR1

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

Loeys-Dietz syndrome is a rare genetic connective tissue disorder characterized by a broad spectrum of craniofacial, vascular and skeletal manifestations with four genetic subtypes described forming a clinical continuum.

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 (1)

aortic aneurysm syndrome due to TGF-beta receptors anomalies

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

    Definitive — SMAD2, TGFB3, TGFBR1

  2. LiteraturePresent

    3,300 matched papers (2,490 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

    3 matched on ClinicalTrials.gov (1 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 (SMAD2, TGFB3, TGFBR1).

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?

3,300

3,300 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.

3,300 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).

2,490 in the last 10 years · low confidence

Phrase hits: 3,300 · MeSH hits: 118

Open Europe PMC search

Who's working on it?

1,414

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
    Braverman AC11 papers · 2026

    Cardiovascular Division, Department of Medicine Washington University School of Medicine St. Louis MO USA.

    Papers in Europe PMC
  2. 02
    Milewicz DM8 papers · 2025

    Division of Medical Genetics, Department of Internal Medicine, McGovern Medical School at UTHealth Houston, Houston, TX.

    Papers in Europe PMC
  3. 03
    Oderich GS6 papers · 2025

    Department of Cardiothoracic and Vascular Surgery, McGovern Medical School at UTHealth Houston, Houston, TX.

    Papers in Europe PMC
  4. 04
    Wang Y6 papers · 2026

    Mass Spectrometry Facility, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD, USA.

    Papers in Europe PMC
  5. 05
    Bcharah G5 papers · 2026

    Department of Cardiovascular Disease, Mayo Clinic, Phoenix, AZ 85054, USA.

    Papers in Europe PMC
  6. 06
    Dreher L5 papers · 2026

    Department of Cardiovascular Disease, Mayo Clinic Arizona, 85054, USA.

    Papers in Europe PMC
  7. 07
    Huguenard AL5 papers · 2026

    Department of Neurological Surgery Washington University School of Medicine St. Louis MO USA.

    Papers in Europe PMC
  8. 08
    Osundiji MA5 papers · 2026

    Department of Cardiovascular Disease, Mayo Clinic, Phoenix, AZ 85054, USA.

    Papers in Europe PMC
  9. 09
    Abdul Nabi H4 papers · 2026

    Department of Cardiovascular Disease, Mayo Clinic, Phoenix, AZ 85054, USA.

    Papers in Europe PMC
  10. 10
    Bcharah H4 papers · 2026

    Department of Cardiovascular Disease, Mayo Clinic, Phoenix, AZ 85054, USA.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

3

interventional trials for this specific condition

3 interventional trials matched this specific condition name; 1 currently recruiting in our sample.

Data as of 27 July 2026

3 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 85.1th percentile).

low confidence · 85.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

10 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.

"Loeys-Dietz syndrome" OR "Aortic aneurysm syndrome due to TGF-beta receptors anomalies"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Loeys-Dietz Syndrome

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

"Loeys-Dietz syndrome" OR "Aortic aneurysm syndrome due to TGF-beta receptors anomalies" OR "SMAD2" OR "TGFB3" OR "TGFBR1"

Recall-expansion terms: SMAD2, TGFB3, TGFBR1

Interventional trials matched via: both (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 3 interventional · 10 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

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 (3300) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T01:02:24.359Z