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ORPHA:229

Familial aortic dissection

medium confidenceDisorder

Also known as: Annuloaortic ectasia · Cystic medial necrosis of aorta

Publications

838

73.3th percentile

Trials

0

Interventional, condition-specific

Researchers

1,020

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

Familial aortic dissection is the term used to describe rupture of the aortic wall at the level of the media, resulting in the formation of a false channel and deviation of part of the aortic flux. Familial predisposition to thoracic aortic aneurysms and type A dissections (concerning the ascending aorta and/or the aortic arch) has been demonstrated in around 19% of patients presenting with thoracic aortic dissections and several loci have been identified so far (16p12.2-p13.13, 3p24-25). This predisposition is transmitted in an manner.

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)

AAT1

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

Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    838 matched papers (271 in last 10 years) Source

  3. Phenotype characterisedPresent

    19 HPO annotations (e.g. Mucoid extracellular matrix accumulation; Cardiomegaly; Patent ductus arteriosus) Source

  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 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?

Not yet — the cause hasn't been pinned down in GenCC.

No strong gene–disease assertion joined for this Orphanet entity.

Phenotypes (Monarch / HPO)

19

Associated phenotypes · MONDO:0024559

  • Mucoid extracellular matrix accumulation
  • Cardiomegaly
  • Patent ductus arteriosus
  • Aortic regurgitation
  • Coronary artery atherosclerosis

Showing 5 of 19 — 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)

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

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

838

838 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=3967) is 59.

838 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).

271 in the last 10 years · medium confidence · 73.3th percentile (publications denominator)

Phrase hits: 838 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,020

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
    Okita Y7 papers · 2026

    Division of Cardiovascular Surgery, Kobe University, Kobe, Japan yokita@med.kobe-u.ac.jp.

    Papers in Europe PMC
  2. 02
    Tanaka H5 papers · 2023

    Department of Cardiovascular Surgery, Hyogo Brain and Heart Center at Himeji, Himeji, Hyogo, Japan.

    Papers in Europe PMC
  3. 03
    Benke K4 papers · 2026

    Heart and Vascular Center, Semmelweis University, Városmajor u. 68, Budapest, H-1122, Hungary.

    Papers in Europe PMC
  4. 04
    Kobayashi K4 papers · 2023

    Second Department of Surgery, Faculty of Medicine, Yamagata University, 2-2-2 Iida-Nishi, Yamagata, 990-9585, Japan. ki-kobayashi@med.id.yamagata-u.ac.jp.

    Papers in Europe PMC
  5. 05
    Pólos M4 papers · 2026

    Heart and Vascular Center, Semmelweis University, Városmajor u. 68, Budapest, H-1122, Hungary.

    Papers in Europe PMC
  6. 06
    Szabolcs Z4 papers · 2026

    Heart and Vascular Center, Semmelweis University, Városmajor u. 68, Budapest, H-1122, Hungary.

    Papers in Europe PMC
  7. 07
    Yamazaki K4 papers · 2022

    Department of Cardiovascular Surgery, Tokyo Women's Medical University, Tokyo, Japan.

    Papers in Europe PMC
  8. 08
    Ágg B3 papers · 2026

    Heart and Vascular Center, Semmelweis University, Városmajor u. 68, Budapest, H-1122, Hungary. agg.bence@med.semmelweis-univ.hu.

    Papers in Europe PMC
  9. 09
    Arai S3 papers · 2023

    Division of Cardiovascular Surgery, Nihonkai General Hospital, 30 Akiho-cho, Sakata, Yamagata, 998-8501, Japan.

    Papers in Europe PMC
  10. 10
    Elefteriades JA3 papers · 2025

    Aortic Institute at Yale-New Haven Hospital, Yale University School of Medicine, New Haven, Conn.

    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. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial.

Data as of 11 September 2026 · last trial check 11 September 2026

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

medium confidence · 38.6th 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

1 observational study matches 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.

None of the matched observational studies is currently listed as 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 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · 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).

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 Familial aortic dissection — 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.

("Familial aortic dissection" OR "Annuloaortic ectasia" OR "Cystic medial necrosis of aorta" OR "Cystic medial necrosis of the aorta")

Run this search on Europe PMC

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

"Familial aortic dissection" OR "Annuloaortic ectasia" OR "Cystic medial necrosis of aorta" OR "Cystic medial necrosis of the aorta"

Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.

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

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: AAT1

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • "Familial aortic dissection" also appears on ORPHA:91387

Ingested 2026-07-26T12:58:41.728Z