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ORPHA:1457

Coarctation of aorta

low confidenceDisorder

Also known as: Aorta coarctation

Publications

25,833

Trials

20

Interventional, condition-specific

Researchers

1,147

Distinct authors in sample

Gene link

—

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare non-syndromic heart characterized by a discrete luminal narrowing of the aorta, typically located at the junction between the aortic arch and the descending aorta, opposite the site of ductus arteriosus insertion. Coarctation of aorta (CoA) is often associated with other cardiac anomalies including bicuspid aortic valve and tubular hypoplasia of the transverse arch.

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 coarctation

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 identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    25,833 matched papers (10,167 in last 10 years) Source

  3. Phenotype characterisedPresent

    20 HPO annotations (e.g. Hypoplastic left ventricle; Coarctation of aorta; 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 trialPresent

    20 matched on ClinicalTrials.gov (3 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)

20

Associated phenotypes · MONDO:0007345

  • Hypoplastic left ventricle
  • Coarctation of aorta
  • Patent ductus arteriosus
  • Tetralogy of Fallot
  • Aortic valve atresia

Showing 5 of 20 — 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

4

Drugs / clinical candidates · MONDO_0007345

CTD chemicals (MyDisease.info)

2 associated chemicals. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Aspirin · marker/mechanism
  • Sulfonamides · marker/mechanism

MyDisease.info · MONDO:0007345

Literature

Is anyone studying this?

25,833

25,833 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.

25,833 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).

10,167 in the last 10 years · low confidence

Phrase hits: 25,833 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,147

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
    Zhang Y6 papers · 2026

    Department of Cardiology, Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Hospital), Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.

    Papers in Europe PMC
  2. 02
    Liu J5 papers · 2026

    Guangzhou Women and Children's Medical Center, Guangzhou Medical University, 9 Jinsui Road, Tianhe District, Guangzhou, Guangdong, China.

    Papers in Europe PMC
  3. 03
    Wang H5 papers · 2026

    Department of Medical Genetics, West China Second University Hospital, Sichuan University, Chengdu, China.

    Papers in Europe PMC
  4. 04
    Li X4 papers · 2026

    Department of Medical Ultrasound, The Fourth Hospital of Shijiazhuang, Shijiazhuang, Hebei Province, China.

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

    Department of Pediatrics, Affiliated Hospital of Jiangnan University, Wuxi, Jiangsu, China.

    Papers in Europe PMC
  6. 06
    Wang Y4 papers · 2026

    Department of Cardiovascular Surgery, West China Hospital of Sichuan University, 37# Guoxue Xiang, Chengdu, 610041, Sichuan, China.

    Papers in Europe PMC
  7. 07
    Anderson JH3 papers · 2026

    Department of Pediatric and Adolescent Medicine, Division of Pediatric Cardiology, Mayo Clinic, Rochester, Minnesota.; Department of Cardiovascular Medicine, Division of Structural Heart Diseases, Mayo Clinic, Rochester, Minnesota. Email: Anderson.Jason@mayo.edu.

    Papers in Europe PMC
  8. 08
    ANJOS R3 papers · 2026

    Serviço de Cardiologia Pediátrica, Hospital de Santa Cruz, ULS de Lisboa Ocidental, Portugal.

    Papers in Europe PMC
  9. 09
    Cabalka AK3 papers · 2026

    Department of Pediatric and Adolescent Medicine, Division of Pediatric Cardiology, Mayo Clinic, Rochester, Minnesota.; Department of Cardiovascular Medicine, Division of Structural Heart Diseases, Mayo Clinic, Rochester, Minnesota.

    Papers in Europe PMC
  10. 10
    Chen YS3 papers · 2026

    Department of Surgery, National Taiwan University Hospital, Taiwan.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

20

interventional trials for this specific condition

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

Data as of 11 September 2026

20 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 94.8th percentile).

low confidence · 94.8th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

29 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 7 · after dedupe 7 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 7 · 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 (7)

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 Coarctation of aorta — 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.

"Coarctation of aorta" OR "Coarctation of the aorta" OR "Aorta coarctation" OR "aortic coarctation"

Run this search on Europe PMC

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

"Coarctation of aorta" OR "Coarctation of the aorta" OR "Aorta coarctation" OR "aortic coarctation"

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: 20 interventional · 29 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

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 (25833) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-26T17:26:37.477Z