{"orpha":231160,"name":"Familial cerebral saccular aneurysm","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Familial berry aneurysm","Familial intracranial saccular aneurysm"],"definition":"A rare genetic neurovascular malformation characterized by sac-like bulging of cerebral arteries due to weakening of the endothelial layer. Familial occurrence is suspected when two or more affected first- to third-degree relatives are present in a family. Aneurysms may remain asymptomatic throughout life, or rupture and thereby cause potentially life-threatening subarachnoid hemorrhage. Patients with familial cerebral saccular aneurysm are more likely to develop more than one brain aneurysm, are at greater risk of rupture, and tend to have poorer outcome after rupture than patients with sporadic cerebral aneurysms.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-231160/","orphanet_url":"https://www.orpha.net/en/disease/detail/231160","names":{"fr":{"name":"Anévrysme intracrânien sacculaire, forme familiale","synonyms":["Anévrysme cérébral sacculaire familial","Anévrysme en baies familial"],"definition":"Malformation neurovasculaire génétique rare caractérisée par un renflement des artères cérébrales en forme de sac, dû à l'affaiblissement de la couche de cellules endothéliales. Une forme familiale de la maladie est suspectée lorsqu'au moins deux apparentés au premier à troisième degré sont atteints. Les anévrysmes peuvent rester asymptomatiques tout au long de la vie du patient, ou peuvent se rompre et ainsi entraîner une hémorragie sous-arachnoïdienne potentiellement fatale. Les patients présentant un anévrysme intracrânien sacculaire de forme familiale sont davantage susceptibles de développer plus d'un anévrysme cérébral, sont à plus haut risque de rupture et leur pronostic après rupture est moins bon que celui des patients atteints d'anévrysmes cérébraux sporadiques."},"de":{"name":"Familiäres zerebrales sakkuläres Aneurysma","synonyms":["Aneurysma, intrakranielles sakkuläres, familiäre Form","Beerenaneurysma, familiäres"],"definition":"Eine seltene genetisch bedingte neurovaskuläre Fehlbildung, die durch eine ballonartige Erweiterung der Hirnarterien aufgrund einer Schwächung der Endothelschicht gekennzeichnet ist. Ein familiäres Auftreten wird vermutet, wenn es in einer Familie zwei oder mehr betroffene Verwandte ersten bis dritten Grades gibt. Aneurysmen können ein Leben lang asymptomatisch bleiben oder reißen und eine potenziell lebensbedrohliche Subarachnoidalblutung verursachen. Bei Patienten mit familiären sakkulären Aneurysmen ist die Wahrscheinlichkeit größer, dass sie mehr als ein Hirnaneurysma entwickeln, das Risiko einer Ruptur ist höher, und sie haben nach einer Ruptur tendenziell ein schlechteres Ergebnis als Patienten mit sporadischen Hirnaneurysmen."},"es":{"name":"Aneurisma cerebral sacular familiar","synonyms":["Aneurisma en baya familiar","Aneurisma sacular intracraneal familiar"],"definition":"Es una malformación neurovascular de origen genético y poco frecuente caracterizada por una dilatación en forma de saco de las arterias cerebrales debido a un debilitamiento de la pared del vaso. La forma familiar se sospecha cuando se presentan dos o más miembros afectados con parentesco de primer a tercer grado. Los aneurismas pueden permanecer asintomáticos durante toda la vida o romperse, causando una hemorragia subaracnoidea potencialmente mortal. Los pacientes con aneurisma cerebral sacular familiar presentan una probabilidad más elevada de desarrollar más de un aneurisma cerebral, así como un mayor riesgo de ruptura y suelen tener un pronóstico más desfavorable después de la ruptura que los pacientes con aneurismas cerebrales esporádicos."},"it":{"name":"Aneurisma sacculare cerebrale familiare","synonyms":["Aneurisma familiare a bacca","Aneurisma sacculare intracranico familiare"],"definition":"Si tratta di una malformazione neurovascolare genetica rara, caratterizzata dalla sporgenza sacculare delle arterie cerebrali, causata dall'indebolimento dello strato endoteliale. La ricorrenza familiare viene sospettata in base alla presenza di due o più consanguinei di primo, secondo o terzo grado affetti. Gli aneurismi possono restare asintomatici per tutta la vita, oppure andare incontro a rottura, causando un'emorragia subaracnoidea potenzialmente letale. I pazienti con un aneurisma sacculare cerebrale familiare sono maggiormente predisposti a sviluppare uno o più aneurismi cerebrali, con un maggiore rischio di rottura, e con esiti tendenzialmente più sfavorevoli dopo la rottura rispetto ai pazienti con aneurismi cerebrali sporadici."},"nl":{"name":"Familiaal cerebraal sacculair aneurysma","synonyms":["Familiaal besaneurysma","Familiaal intracranieel sacculair aneurysma"],"definition":"Een zeldzame, genetische neurovasculaire malformatie, gekarakteriseerd door zak-achtige uitpuiling van cerebrale arteriën als gevolg van verzwakking van het endotheel. Familiaal voorkomen wordt vermoed wanneer twee of meer getroffen eerste- tot derdegraadsverwanten aanwezig zijn in een familie. Aneurysmata kunnen levenslang asymptomatisch blijven, of ze kunnen scheuren en zo potentieel levensbedreigende subarachnoïdale hemorragie veroorzaken. Patiënten met familiaal cerebraal sacculair aneurysma hebben meer kans om meer dan een hersenaneurysma te ontwikkelen, lopen groter risico op ruptuur, en hebben eerder een slechtere uitkomst dan patiënten met sporadisch cerebraal aneurysma."},"pt":{"name":"Aneurisma sacular familiar"},"pl":{"name":"Rodzinny tętniak woreczkowaty mózgu","synonyms":["Rodzinny tętniak w kształcie jagody","Rodzinny wewnatrzczaszkowy tetniak woreczkowaty"]},"cs":{"name":"Familiární cerebrální sakulární aneuryzma","synonyms":["Familiární bobulovité aneuryzma","Familiární intrakraniální sakulární aneuryzma"]},"uk":{"name":"Сімейна мішкоподібна аневризма головного мозку","synonyms":["Сімейна ягідна аневризма","Сімейна внутрішньочерепна мішкоподібна аневризма"],"definition":"A rare genetic neurovascular malformation characterized by sac-like bulging of cerebral arteries due to weakening of the endothelial layer. Familial occurrence is suspected when two or more affected first- to third-degree relatives are present in a family. Aneurysms may remain asymptomatic throughout life, or rupture and thereby cause potentially life-threatening subarachnoid hemorrhage. Patients with familial cerebral saccular aneurysm are more likely to develop more than one brain aneurysm, are at greater risk of rupture, and tend to have poorer outcome after rupture than patients with sporadic cerebral aneurysms."},"zh":{"name":"家族性大脑囊状动脉瘤","synonyms":["家族性颅内囊状动脉瘤"],"definition":"一种罕见的遗传性神经血管畸形，其特征是由于内皮薄弱而导致脑动脉囊状隆起。当一个家庭中有两个或两个以上一级至三级亲属受影响时，可怀疑该病具有家族性。动脉瘤可能终生无症状表现，或破裂导致蛛网膜下腔出血，可能危及生命。家族性脑囊状动脉瘤患者比散发性脑动脉瘤患者更容易发生多发性脑动脉瘤，破裂风险更大，发生破裂后预后更差。"},"tr":{"name":"Ailesel serebral saküler anevrizma","synonyms":["Ailesel berry anevrizması","Ailesel intrakraniyal sakküler anevrizma"]}},"xrefs":[{"source":"OMIM","code":"105800","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"300870","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"608542","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"609122","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"610213","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"611892","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"612161","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"612162","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"612586","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"612587","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614252","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618734","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"I67.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8B22.6","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"59881644"},{"source":"MONDO","code":"16483","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3839866","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":371436,"name":"Genetic neurovascular malformation","classifications":[156]},{"orpha":102006,"name":"Neurovascular malformation","classifications":[181]}],"children":[],"genes":[{"symbol":"COL3A1","name":"collagen type III alpha 1 chain","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"22241462[PMID]","hgnc":"2201","ensembl":"ENSG00000168542","omim":"120180","loci":["2q32.2"]},{"symbol":"TGFBR3","name":"transforming growth factor beta receptor 3","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"19299629[PMID]","hgnc":"11774","ensembl":"ENSG00000069702","omim":"600742","loci":["1p22.1"]},{"symbol":"ANGPTL6","name":"angiopoietin like 6","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"29304371[PMID]","hgnc":"23140","ensembl":"ENSG00000130812","omim":"609336","loci":["19p13.2"]},{"symbol":"THSD1","name":"thrombospondin type 1 domain containing 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"27895300[PMID]","hgnc":"17754","ensembl":"ENSG00000136114","omim":"616821","loci":["13q14.3"]},{"symbol":"ENG","name":"endoglin","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"19299629[PMID]","hgnc":"3349","ensembl":"ENSG00000106991","omim":"131195","loci":["9q34.11"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Annual incidence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-01-15","source":"16736093[PMID]_24646873[PMID]_23054244[PMID]","terms":[{"hpo":"HP:0007029","label":"Cerebral berry aneurysm","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0002363","label":"Abnormal brainstem morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012518","label":"Abnormality of circle of Willis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002621","label":"Atherosclerosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001269","label":"Hemiparesis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002326","label":"Transient ischemic attack","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001123","label":"Visual field defect","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002647","label":"Aortic dissection","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002616","label":"Aortic root aneurysm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040197","label":"Encephalomalacia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002170","label":"Intracranial hemorrhage","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012246","label":"Oculomotor nerve palsy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002138","label":"Subarachnoid hemorrhage","frequency":"Occasional (29-5%)","criteria":null}]}}