ORPHA:494424
Extracranial carotid artery aneurysm
Also known as: ECAA · ECCA
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
127
62.1th percentile
Trials
0
Interventional, condition-specific
Researchers
566
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
A rare vascular anomaly characterized by dilation of the internal or the common carotid artery greater than 150% of the diameter of the normal, healthy vessel. Lesions of the carotid bifurcation are typically fusiform, degenerative in nature, and may occur bilaterally, while saccular aneurysms are usually unilateral and mostly located in the middle segment of the internal carotid artery. Symptomatic patients may present with a palpable pulsating mass, local pain, cerebral ischemia, peripheral nerve dysfunction, stridor, or voice changes due to local compression.
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0044632
- UMLS:C4476554
Additional Mondo synonyms (1)
Ecca
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.”
1/6 stages with a signal
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
127 matched papers (78 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- 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)
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?
127
127 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
127 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).
78 in the last 10 years · medium confidence · 62.1th percentile (publications denominator)
Phrase hits: 127 · MeSH hits: 0
Who's working on it?
566
Distinct author names in 127 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.
- 01de Borst GJ13 papers · 2026
Department of Vascular Surgery, UMCU, Utrecht, The Netherlands - G.J.deBorst-2@umcutrecht.nl.
Papers in Europe PMC - 02van Laarhoven CJHCM7 papers · 2022
Department of Vascular Surgery, University Medical Center Utrecht, University Utrecht, PO Box 85500, Utrecht, The Netherlands.
Papers in Europe PMC - 03Pourier VEC4 papers · 2020
Department of Vascular Surgery, University Medical Center Utrecht, Room G04.129, PO Box 85500, 3508 GA, Utrecht, the Netherlands.
Papers in Europe PMC - 04Welleweerd JC4 papers · 2018
Department of Vascular Surgery, University Medical Center Utrecht, Heidelberglaan 100, 3584 CX Utrecht, The Netherlands.
Papers in Europe PMC - 05Bots ML3 papers · 2022
Julius Center for Health Sciences and Primary Care, UMCU, Utrecht, The Netherlands.
Papers in Europe PMC - 06de Vries EE3 papers · 2022
Department of Vascular Surgery, University Medical Center Utrecht, University Utrecht, PO Box 85500, Utrecht, The Netherlands.
Papers in Europe PMC - 07Gao X3 papers · 2024
Vascular Surgery Department, XuanWu Hospital and Institute of Vascular Surgery, Capital Medical University, Beijing, China.
Papers in Europe PMC - 08Guo L3 papers · 2024
Vascular Surgery Department, XuanWu Hospital and Institute of Vascular Surgery, Capital Medical University, Beijing, China.
Papers in Europe PMC - 09Hazenberg CEVB3 papers · 2026
Department of Vascular Surgery, University Medical Center Utrecht, University Utrecht, PO Box 85500, Utrecht, The Netherlands.
Papers in Europe PMC - 10Liu Y3 papers · 2021
Department of Vascular and Endovascular Surgery, Shanghai Changzheng Hospital affiliated to Naval Medical University, Shanghai, District of Huangpu, Fengyang Road 415, Shanghai 200003, 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. 2 observational studies did — shown below because natural-history and cohort work can be an important step toward a trial.
Data as of 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
medium confidence · 36.5th 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
2 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.
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 2026-07-26This 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.
"Extracranial carotid artery aneurysm"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Extracranial carotid artery aneurysm" OR "carotid artery disorder"
Recall-expansion terms: carotid artery disorder
Study-type breakdown: 0 interventional · 2 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: ECAA; ECCA
Confidence reasoning
- Preferred label is multi-word and distinctive
- 2 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T17:30:00.210Z