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ORPHA:3193

Supravalvular aortic stenosis

medium confidenceDisorder

Also known as: SVAS

Publications

2,427

87.2th percentile

Trials

0

Interventional, condition-specific

Researchers

1,068

Distinct authors in sample

Gene link

ELN

Definitive

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare aortic characterized by the narrowing of the aorta lumen (close to its origin) associated or not with stenosis of other arteries (branch pulmonary arteries, coronary arteries). This narrowing of the aorta or pulmonary branches may impede blood flow, resulting in heart murmur and ventricular hypertrophy (left ventricle in case of aorta involvement, right ventricle in case of pulmonary artery involvement).

How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (3)

supravalvar aortic stenosis · supravalvular aortic stenosis · supravalvular aortic stenosis (disease)

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.”

4/6 stages with a signal

No matched interventional trial, but a gene association and an animal model are on record — often described as translation-ready / stalled at the clinical step.

  1. Gene identifiedPresent

    Definitive — ELN

  2. LiteraturePresent

    2,427 matched papers (973 in last 10 years) Source

  3. Phenotype characterisedPresent

    11 HPO annotations (e.g. Pulmonic stenosis; Pulmonary artery stenosis; Supravalvular aortic stenosis) Source

  4. Animal modelPresent

    2 genotype models (Mus musculus) Source

  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?

Yes — we know a specific gene responsible (ELN).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

11

Associated phenotypes · MONDO:0008504

  • Pulmonic stenosis
  • Pulmonary artery stenosis
  • Supravalvular aortic stenosis
  • Peripheral arterial stenosis

Showing 4 of 11 — open Monarch for the full list.

Animal models (Monarch / Alliance)

2

Model associations linked to this Mondo ID

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?

2,427

2,427 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.

2,427 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).

973 in the last 10 years · medium confidence · 87.2th percentile (publications denominator)

Phrase hits: 2,408 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,068

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
    Wang Q9 papers · 2026

    The Pediatric Heart Center, Beijing Anzhen Hospital, Capital Medical University, Beijing, China. wq.cory@163.com.

    Papers in Europe PMC
  2. 02
    Zhang S9 papers · 2026

    Pediatric Cardiac Surgery Center, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Xicheng District.

    Papers in Europe PMC
  3. 03
    Lv L8 papers · 2026

    Center for Pediatric Cardiac Surgery, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100037, China.

    Papers in Europe PMC
  4. 04
    Wang C7 papers · 2025

    Center for Pediatric Cardiac Surgery, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100037, China.

    Papers in Europe PMC
  5. 05
    Collins RT6 papers · 2024

    Division of Pediatric Cardiology, Stanford University School of Medicine, Lucile Packard Children's Hospital Stanford, Stanford, CA, USA.

    Papers in Europe PMC
  6. 06
    Kozel BA6 papers · 2026

    Laboratory of Vascular and Matrix Genetics at the National Heart, Lung, and Blood Institute, National Institutes of Health (NIH), Bethesda, MD, USA.

    Papers in Europe PMC
  7. 07
    Honjo O4 papers · 2025

    Division of Cardiovascular Surgery, Department of Surgery, Hospital for Sick Children, The University of Toronto, Toronto, ON, Canada.

    Papers in Europe PMC
  8. 08
    Lang X4 papers · 2025

    Medical Research & Biometrics Center, National Center for Cardiovascular Diseases, Fu Wai Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 102308, China.

    Papers in Europe PMC
  9. 09
    Li F4 papers · 2025

    Department of Child Health Care, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, 310052, Zhejiang Province, China.

    Papers in Europe PMC
  10. 10
    Liu J4 papers · 2026

    Department of Cardiothoracic Surgery, Shanghai Children's Medical Center, School of Medicine, Shanghai Jiao Tong University, 1678 Dongfang Road, Shanghai, China.

    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. 3 observational studies 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

3 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.

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 1 · after dedupe 1 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 1 · 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 (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 Supravalvular aortic stenosis — 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.

("Supravalvular aortic stenosis" OR "supravalvar aortic stenosis" OR "supravalvular aortic stenosis (disease)") OR ("ELN syndrome" OR "ELN-related")

Run this search on Europe PMC

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

"Supravalvular aortic stenosis" OR "supravalvar aortic stenosis" OR "supravalvular aortic stenosis (disease)"

Study-type breakdown: 0 interventional · 3 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: SVAS

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 2026-07-26T22:26:44.289Z