{"orpha":981,"name":"Internal carotid absence","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare vascular anomaly characterized by agenesis (complete absence of the carotid canal), aplasia (a remnant of the artery remains) or hypoplastic (incomplete embryonic development) of the internal carotid artery, which can be unilateral or bilateral. Children with the condition are mostly asymptomatic due to the presence of collateral circulation. With increasing age, the risk of cerebrovascular events increases. Patients may present with headache, seizures, or transient ischemic attacks. Cerebral aneurysms may form in the context of the condition.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-981/","orphanet_url":"https://www.orpha.net/en/disease/detail/981","names":{"fr":{"name":"Absence de la carotide interne","definition":"Anomalie vasculaire rare caractérisée par une agénésie (absence complète du canal carotidien), une aplasie (un reste de l'artère subsiste) ou une hypoplasie (développement embryonnaire incomplet) de l'artère carotide interne, qui peut être unilatérale ou bilatérale. Les enfants atteints de cette pathologie sont le plus souvent asymptomatiques en raison de la présence d'une circulation collatérale. Avec l'âge, le risque d'événements cérébrovasculaires augmente. Les patients peuvent présenter céphalées, convulsions ou accidents ischémiques transitoires. Des anévrismes cérébraux peuvent également survenir."},"de":{"name":"Fehlen der Arteria carotis interna","definition":"Eine seltene Gefäßanomalie, die durch Agenesie (vollständiges Fehlen des Karotiskanals), Aplasie (ein Rest der Arterie bleibt zurück) oder Hypoplastie (unvollständige embryonale Entwicklung) der inneren Karotis gekennzeichnet ist und ein- oder beidseitig sein kann. Kinder mit dieser Erkrankung sind meist asymptomatisch, da ein Kollateralkreislauf vorhanden ist. Mit zunehmendem Alter steigt das Risiko von zerebrovaskulären Ereignissen. Die Patienten können sich mit Kopfschmerzen, Krampfanfällen oder transitorischen ischämischen Attacken vorstellen. Im Zusammenhang mit der Erkrankung können sich zerebrale Aneurysmen bilden."},"es":{"name":"Ausencia de la carótida interna","definition":"Es una anomalía vascular caracterizada por agenesia (ausencia total del canal carotídeo), aplasia (restos de la arteria permanecen) o hipoplasia (desarrollo embrionario incompleto) de la arteria carótida interna, que puede ser uni- o bilateral. La mayoría de pacientes pediátricos permanecen asintomáticos debido a la presencia de la circulación colateral. Con la edad, aumenta el riesgo de sufrir eventos cerebrovasculares. Los pacientes pueden presentar cefalea, crisis epilépticas o ataques isquémicos transitorios. También es posible la formación de aneurismas cerebrales en el contexto de la afección."},"it":{"name":"Agenesia della carotide interna"},"nl":{"name":"Afwezigheid van arteria carotis interna","synonyms":["Agenesie van arteria carotis interna","Agenesie van binnenste halsslagader","Aplasie van binnenste halsslagader","Dysgenesie van binnenste halsslagader","Hypoplasie van binnenste halsslagader"],"definition":"Een zeldzame vasculaire anomalie, gekenmerkt door agenesie (volledige afwezigheid van canalis caroticus), aplasie (een rest van de arterie blijft over) of hypoplasie (onvolledige embryonale ontwikkeling) van de arteria carotis interna (binnenste halsslagader), die unilateraal of bilateraal kan zijn. Kinderen met de aandoening zijn overwegend asymptomatisch vanwege de aanwezigheid van collaterale circulatie. Met het ouder worden, stijgt het risico op cerebrovasculaire gebeurtenissen. Patiënten kunnen zich presenteren met hoofdpijn, insulten, of transiënte ischemische aanvallen. In de context van deze aandoening kunnen zich cerebrale aneurysmata vormen."},"pt":{"name":"Ausência de carótida interna","definition":"Anomalia vascular rara caracterizada por agenesia (ausência completa do canal carotídeo), aplasia (um remanescente da artéria permanece) ou hipoplasia (desenvolvimento embrionário incompleto) da artéria carótida interna, que pode ser unilateral ou bilateral. As crianças com a condição são, na sua maioria, assintomáticas devido à presença de circulação colateral. Com o aumento da idade, o risco de eventos cerebrovasculares aumenta. Os doentes podem apresentar cefaleia, convulsões ou ataques isquémicos transitórios. Aneurismas cerebrais podem formar-se no contexto da condição."},"pl":{"name":"Agnezja tętnicy szyjnej wewnętrznej","definition":"Rzadka anomalia naczyniowa charakteryzująca się agenezją (całkowitym brakiem kanału tętnicy szyjnej), aplazją (obecna tętnica resztkowa) lub hipoplazją (niekompletnym rozwojem embrionalnym) tętnicy szyjnej wewnętrznej, która może być jednostronna lub obustronna. Dzieci z tą chorobą w większości nie mają objawów ze względu na obecność krążenia obocznego. Wraz z wiekiem wzrasta ryzyko zdarzeń naczyniowo-mózgowych. Mogą występować bóle głowy, drgawki, przemijające ataki niedokrwienne lub tworzyć się tętniaki mózgu."},"cs":{"name":"Ageneze vnitřních karotid"},"uk":{"name":"Відсутність внутрішньої сонної артерії","definition":"Internal carotid artery (ICA) agenesis (uni or bilateral) is a developmental defect that may be asymptomatic or lead to cerebrovascular lesions. It is a rare malformation, with only around hundred cases reported in the literature. When symptoms are present, they are caused by cerebrovascular insufficiency, compression of the brain by vessels that dilate to compensate for the absence of the ICA, or the presence of an aneurysm. Associated intracranial aneurysms occur in 25 to 35% of patients and are often responsible for intracranial hemorrhage, which may present as the initial symptom. The absence of the ICA is the result of either agenesis or aplasia. The term agenesis is used when both the ICA and its bony canal are absent, whereas there is some evidence of carotid canals in cases of aplasia. The absence of the ICA can be detected by angiography or by computerised tomography."},"zh":{"name":"颈内动脉发育不全"},"tr":{"name":"İnternal karotis agenezi"}},"xrefs":[{"source":"ICD-10","code":"Q28.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA90.4Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"368564890"},{"source":"MONDO","code":"0020048","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4302907","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3012","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":102006,"name":"Neurovascular malformation","classifications":[181]},{"orpha":458844,"name":"Rare vascular malformation of major vessels","classifications":[147,198]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["All ages"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":100.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]_22851490[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-29","source":"27332518[PMID]_12601459[PMID]","terms":[{"hpo":"HP:0002637","label":"Cerebral ischemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004944","label":"Dilatation of the cerebral artery","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002138","label":"Subarachnoid hemorrhage","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100702","label":"Arachnoid cyst","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Occasional (29-5%)","criteria":null}]}}