Extracranial carotid artery aneurysm

Summary

Extracranial carotid artery aneurysm (MONDO:0044632) is a disease and 2 clinical trials. A subtype of carotid artery disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Prevalence: Unknown (Worldwide) [Orphanet-validated]
• Phenotypes (HPO): 28
• Clinical trials: 2

Clinical features

Signs & symptoms

Clinical features (HPO)

28 HPO clinical features (Orphanet curated; top 28 by frequency):

HPO ID	Term	Frequency
HP:0000464	Abnormality of the neck	Frequent (30-79%)
HP:0000707	Abnormality of the nervous system	Frequent (30-79%)
HP:0000822	Hypertension	Frequent (30-79%)
HP:0001297	Stroke	Frequent (30-79%)
HP:0002621	Atherosclerosis	Frequent (30-79%)
HP:0031910	Abnormal cranial nerve physiology	Frequent (30-79%)
HP:0000819	Diabetes mellitus	Occasional (5-29%)
HP:0001269	Hemiparesis	Occasional (5-29%)
HP:0001609	Hoarse voice	Occasional (5-29%)
HP:0001727	Thromboembolic stroke	Occasional (5-29%)
HP:0001977	Abnormal thrombosis	Occasional (5-29%)
HP:0002138	Subarachnoid hemorrhage	Occasional (5-29%)
HP:0002381	Aphasia	Occasional (5-29%)
HP:0002633	Vasculitis	Occasional (5-29%)
HP:0002634	Arteriosclerosis	Occasional (5-29%)
HP:0002637	Cerebral ischemia	Occasional (5-29%)
HP:0003484	Upper limb muscle weakness	Occasional (5-29%)
HP:0003549	Abnormality of connective tissue	Occasional (5-29%)
HP:0005160	Total anomalous pulmonary venous return	Occasional (5-29%)
HP:0006824	Cranial nerve paralysis	Occasional (5-29%)
HP:0012089	Arteritis	Occasional (5-29%)
HP:0012531	Pain	Occasional (5-29%)
HP:0031690	Opportunistic infection	Occasional (5-29%)
HP:0032169	Severe infection	Occasional (5-29%)
HP:0002721	Immunodeficiency	Very rare (<1-4%)
HP:0002960	Autoimmunity	Very rare (<1-4%)
HP:0005313	Arterial fibromuscular dysplasia	Very rare (<1-4%)
HP:0032271	Extrapulmonary tuberculosis	Very rare (<1-4%)

Identifiers

Disease identifiers

Field	Value
Canonical name	extracranial carotid artery aneurysm
Mondo ID	MONDO:0044632
Orphanet	494424
UMLS	C4476554
MedGen	1393749
GARD	0022003
Is cancer (heuristic)	no

Also known as: ECAA · ECCA · Ecca

Disease family

This is a subtype of carotid artery disorder. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

Classification path: disease › human disease › disease by body system or component › cardiovascular disorder › vascular disorder › arterial disorder › carotid artery disorder › extracranial carotid artery aneurysm

Related subtypes (5): carotid stenosis, carotid artery occlusion, carotid artery dissection, carotid artery thrombosis, autonomic facial cephalgia

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

No tiered GWAS variants or ClinVar records for this disease.

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 2.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	2

Top trials by phase / activity

NCT	Phase	Status	Title
NCT02229370	Not specified	UNKNOWN	Carotid Aneurysm Registry
NCT05828576	Not specified	UNKNOWN	ECAA Brain MRI: Seeking the Link Between Extracranial Carotid Artery Aneurysms and Small Vessel Disease