{"orpha":494424,"name":"Extracranial carotid artery aneurysm","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["ECAA","ECCA"],"definition":"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.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-494424/","orphanet_url":"https://www.orpha.net/en/disease/detail/494424","names":{"fr":{"name":"Anévrisme de l'artère carotide extra-crânienne","definition":"Anomalie vasculaire caractérisée par une dilatation de l'artère carotide interne ou commune supérieure à 150 % du diamètre du vaisseau normal et sain. Les lésions de la bifurcation carotidienne sont typiquement fusiformes, de nature dégénérative, et peuvent être bilatérales, tandis que les anévrismes sacculaires sont généralement unilatéraux et se situent le plus souvent dans le segment moyen de l'artère carotide interne. Les patients symptomatiques peuvent manifester une masse pulsatile palpable, une douleur locale, une ischémie cérébrale, un dysfonctionnement des nerfs périphériques, un stridor ou des changements de voix dus à une compression locale."},"de":{"name":"Karotisarterienaneurysma, extrakranielles","synonyms":["ECAA","ECCA"],"definition":"Eine seltene Gefäßanomalie, die durch eine Erweiterung der inneren oder der gemeinsamen Halsschlagader von mehr als 150 % des Durchmessers des normalen, gesunden Gefäßes gekennzeichnet ist. Läsionen der Karotisbifurkation sind typischerweise fusiform, degenerativ und können beidseitig auftreten, während sackförmige Aneurysmen in der Regel einseitig sind und sich meist im mittleren Segment der Arteria carotis interna befinden. Symptomatische Patienten können sich mit einer tastbaren, pulsierenden Gewebeverdichtung, lokalen Schmerzen, zerebraler Ischämie, peripheren Nervenstörungen, Stridor oder Stimmveränderungen aufgrund lokaler Kompression vorstellen."},"es":{"name":"Aneurisma de la arteria carótida extracraneal","synonyms":["ECAA","ECCA"],"definition":"Es una anomalía vascular poco frecuente que se caracteriza por una dilatación de la arteria carótida común o interna superior al 150% del diámetro normal del vaso. Las lesiones de la bifurcación carotídea son típicamente fusiformes, de naturaleza degenerativa y pueden ocurrir bilateralmente, mientras que los aneurismas saculares suelen ser unilaterales y se localizan principalmente en el segmento medio de la arteria carótida interna. Los pacientes sintomáticos pueden presentar una masa pulsátil palpable, dolor localizado, isquemia cerebral, disfunción nerviosa periférica, estridor o cambios en la voz debido a la compresión local."},"it":{"name":"Aneurisma dell'arteria carotide extracranica","definition":"Si tratta di un'anomalia vascolare rara, caratterizzata da una dilatazione dell'arteria carotide interna o comune superiore al 150% del diametro del vaso normale sano. Le lesioni della biforcazione carotidea di solito sono fusiformi e degenerative, e possono insorgere bilateralmente, mentre gli aneurismi sacculari in genere sono monolaterali e per lo più localizzati nel segmento medio dell'arteria carotide interna. I pazienti sintomatici presentano una massa pulsante palpabile, dolore localizzato, ischemia cerebrale, disfunzione dei nervi periferici, stridore o alterazione della voce causati dalla compressione locale."},"nl":{"name":"Extracraniële halsslagader-aneurysma","synonyms":["Aneurysma van de extracraniële arteria carotis","ECAA","ECCA"],"definition":"Een zeldzame vasculaire anomalie, gekarakteriseerd door dilatatie van arteria carotis interna (binnenste halsslagader) of arteria carotis communis (gemeenschappelijke halsslagader) tot meer dan 150% van de diameter van het bloedvat in normale, gezonde toestand. Laesies van bifurcatio carotidis (splitsing van gemeenschappelijke halsslagader in binnenste en buitenste halsslagader) zijn doorgaans fusiform, degeneratief van aard, en kunnen bilateraal voorkomen, terwijl sacculair aneurysma meestal unilateraal voorkomt en zich doorgaans situeert in het middelste segment van arteria carotis interna. Symptomatische patiënten kunnen zich presenteren met een palpabele pulserende massa, lokale pijn, cerebrale ischemie, disfunctie van perifere zenuw, stridor, of verandering van stem door lokale compressie."},"pt":{"name":"Aneurisma da artéria carótida extracraniana"},"pl":{"name":"Tętniak zewnątrzczaszkowej tętnicy szyjnej","synonyms":["ECAA","ECCA"]},"cs":{"name":"Extrakraniální aneuryzma krkavice","synonyms":["ECAA","ECCA"]},"uk":{"name":"Аневризма екстракраніальної сонної артерії","synonyms":["ECAA","ECCA"],"definition":"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."},"zh":{"name":"颅外颈动脉瘤","synonyms":["ECCA"],"definition":"一种罕见的血管异常，其特征是颈内动脉或颈总动脉的扩张大于正常健康血管直径的150%。颈动脉分叉的病变为典型梭形，呈退行性，可发生在双侧，而囊状动脉瘤通常为单侧，多位于颈内动脉中段。有症状的患者可出现可触及的搏动性肿块、局部疼痛、脑缺血、周围神经功能障碍、喘鸣或局部压迫引起的声音改变。"},"tr":{"name":"Ekstrakraniyal karotis arter anevrizması","synonyms":["ECAA","ECCA"]}},"xrefs":[{"source":"ICD-10","code":"I72.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"BD51.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0044632","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0340639","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":458844,"name":"Rare vascular malformation of major vessels","classifications":[147,198]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adult","Elderly"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26116488[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-06-01","source":"28392101[PMID]_26603291[PMID]_31269009[PMID]","terms":[{"hpo":"HP:0031910","label":"Abnormal cranial nerve physiology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000464","label":"Abnormality of the neck","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000707","label":"Abnormality of the nervous system","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002621","label":"Atherosclerosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001297","label":"Stroke","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001977","label":"Abnormal thrombosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003549","label":"Abnormality of connective tissue","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002381","label":"Aphasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002634","label":"Arteriosclerosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012089","label":"Arteritis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002637","label":"Cerebral ischemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006824","label":"Cranial nerve paralysis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000819","label":"Diabetes mellitus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001269","label":"Hemiparesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001609","label":"Hoarse voice","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031690","label":"Opportunistic infection","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012531","label":"Pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0032169","label":"Severe infection","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002138","label":"Subarachnoid hemorrhage","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001727","label":"Thromboembolic stroke","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005160","label":"Total anomalous pulmonary venous return","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003484","label":"Upper limb muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002633","label":"Vasculitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005313","label":"Arterial fibromuscular dysplasia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002960","label":"Autoimmunity","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0032271","label":"Extrapulmonary tuberculosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002721","label":"Immunodeficiency","frequency":"Very rare (<4-1%)","criteria":null}]}}