ORPHA:494424
Extracranial carotid artery aneurysm
Also known as: ECAA · ECCA
Publications
127
54th percentile
Trials
0
Interventional, condition-specific
Researchers
566
Distinct authors in sample
Gene link
—
Readiness
2/6
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.”
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.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
127 matched papers (78 in last 10 years) Source
- Phenotype characterisedPresent
28 HPO annotations (e.g. Stroke; Abnormal cranial nerve physiology; Aphasia) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- 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)
28
Associated phenotypes · MONDO:0044632
- Stroke
- Abnormal cranial nerve physiology
- Aphasia
- Arteritis
- Severe infection
Showing 5 of 28 — 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?
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=3967) is 59.
127 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).
78 in the last 10 years · medium confidence · 54th 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 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
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.
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 2026-07-30
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)
- isrctn·ISRCTN13486906·Stopped·Coronary Artery Bypass graft surgery in patients with asymptomatic carotid stenosis
skipped — LLM skipped (--skip-llm)
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 Extracranial carotid artery aneurysm — check Associations / patient organisations on that page.
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"
Study-type breakdown: 0 interventional · 2 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: 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