raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:494424

Extracranial carotid artery aneurysm

Synonyms: ECAA · ECCA

Type
Morphological anomaly
Group
Disorder
Inheritance
Not applicable
Age of onset
Adult, Elderly
Status
active

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.

1

Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enExtracranial carotid artery aneurysmECAA · ECCA
frAnévrisme de l'artère carotide extra-crânienne
deKarotisarterienaneurysma, extrakranielles= en
esAneurisma de la arteria carótida extracraneal= en
itAneurisma dell'arteria carotide extracranica
nlExtracraniële halsslagader-aneurysmaAneurysma van de extracraniële arteria carotis · ECAA · ECCA
ptAneurisma da artéria carótida extracraniana
plTętniak zewnątrzczaszkowej tętnicy szyjnej= en
csExtrakraniální aneuryzma krkavice= en
ukАневризма екстракраніальної сонної артерії= en
zh颅外颈动脉瘤ECCA
trEkstrakraniyal karotis arter anevrizması= en

Definition in:

2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
ICD-10I72.0NTBTattributedvalidated
ICD-11BD51.0NTBTattributedvalidated
MONDO0044632Evalidated
UMLSC0340639Evalidated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

3

Classification

Preferential parent (Orphanet linearisation):

Parents in the classifications (1):

No children.

4

Genes

0 direct

Orphanet records no gene directly on this code.

5

Prevalence and incidence

1 record
TypeClassValueAreaQualificationValidationSource
Point prevalenceUnknown—WorldwideClass onlyValidatedORPHANET_26116488[PMID]

Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.

6

HPO phenotypes

28 annotations · validated 2021-06-01
HPOTerm (as annotated by Orphanet)Diagnostic
Frequent (79-30%)
HP:0031910Abnormal cranial nerve physiology
HP:0000464Abnormality of the neck
HP:0000707Abnormality of the nervous system
HP:0002621Atherosclerosis
HP:0000822Hypertension
HP:0001297Stroke
Occasional (29-5%)
HP:0001977Abnormal thrombosis
HP:0003549Abnormality of connective tissue
HP:0002381Aphasia
HP:0002634Arteriosclerosis
HP:0012089Arteritis
HP:0002637Cerebral ischemia
HP:0006824Cranial nerve paralysis
HP:0000819Diabetes mellitus
HP:0001269Hemiparesis
HP:0001609Hoarse voice
HP:0031690Opportunistic infection
HP:0012531Pain
HP:0032169Severe infection
HP:0002138Subarachnoid hemorrhage
HP:0001727Thromboembolic stroke
HP:0005160Total anomalous pulmonary venous return
HP:0003484Upper limb muscle weakness
HP:0002633Vasculitis
Very rare (<4-1%)
HP:0005313Arterial fibromuscular dysplasia
HP:0002960Autoimmunity
HP:0032271Extrapulmonary tuberculosis
HP:0002721Immunodeficiency

Annotation source: 28392101[PMID]_26603291[PMID]_31269009[PMID]

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Sources for this card