{"orpha":46724,"name":"Brain arteriovenous malformation, nidus type","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["Cerebral arteriovenous malformation"],"definition":"Cerebral arteriovenous malformation (AVM) is a congenital malformative communication between the veins and the arteries in the brain in the form of a nidus, an anatomical structure composed of dilated and tangled supplying arterioles and drainage veins with no intervening capillary bed, that can be asymptomatic or cause, depending on the location and the size of the AVM, headaches of varying severity, generalized or focal seizures, focalneurological defects (weakness, numbness, speech difficulties, vision loss) or potentially fatal intracranial hemorrhage in case the AVM ruptures.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-46724/","orphanet_url":"https://www.orpha.net/en/disease/detail/46724","names":{"fr":{"name":"Malformation artério-veineuse cérébrale, type nidus","definition":"Une anomalie rare du développement embryonnaire avec une communication malformative congénitale entre les veines et les artères du cerveau sous la forme d'un nidus, une structure anatomique composée d'artérioles et de veines de drainage dilatées et emmêlées sans lit capillaire intermédiaire. La maladie peut être asymptomatique ou provoquer, selon l'emplacement et la taille de la malformation, des maux de tête de gravité variable, des crises généralisées ou focales, des défauts focaux neurologiques (faiblesse, engourdissement, difficultés d'élocution, perte de vision) ou une hémorragie intra crânienne potentiellement mortelle en cas de rupture de la malformation artérioveineuse cérébrale."},"de":{"name":"Arteriovenöse Malformation des Gehirns vom Nidus-Typ","synonyms":["Fehlbildung, arteriovenöse zerebrale, Nidus-Typ","Zerebrale Gefäßmalformation","cAVM"]},"es":{"name":"Malformación arteriovenosa del cerebro, tipo nido","synonyms":["Malformación arteriovenosa cerebral"],"definition":"Es una comunicación congénita anómala entre las venas y las arterias cerebrales en forma de nido, una estructura anatómica compuesta de arteriolas aferentes dilatadas y enredadas y venas de drenaje sin lecho capilar intermedio, que puede ser asintomática o producir, según la localización y el tamaño de la malformación, cefaleas de gravedad variable, convulsiones generalizadas o focales, deficiencias neurológicas focales (debilidad, adormecimiento, dificultad en el habla, pérdida de visión) o, en caso de rotura, hemorragia intracraneal potencialmente mortal."},"it":{"name":"Malformazione arterovenosa cerebrale a nido","synonyms":["Malformazione arterovenosa cerebrale"],"definition":"La malformazione arterovenosa cerebrale (AVM) è una malformazione congenita che consiste nella comunicazione tra le vene e le arterie del cervello e si presenta sotto forma di nido, una struttura anatomica composta da arteriole afferenti e vene di drenaggio dilatate e aggrovigliate, non intervallate da un letto capillare. La malformazione può essere asintomatica, oppure causare, a seconda della localizzazione e delle dimensioni, cefalee di grado variabile, crisi epilettiche generalizzate o focali, deficit neurologici focali (debolezza, insensibilità, difficoltà di linguaggio e perdita della vista) ed emorragie intracraniche potenzialmente letali in caso di rottura della malformazione."},"nl":{"name":"Arterioveneuze malformatie van hersenen, nidus-type","synonyms":["Cerebrale arterioveneuze malformatie, nidus-type","AVM van hersenen, nidus-type","Cerebrale AVM, nidus-type"],"definition":"Cerebrale arterioveneuze malformatie (AVM) is een congenitale malformatieve communicatie tussen de aders en de slagaders in de hersenen in de vorm van een nidus (nestje), een anatomische structuur bestaande uit gedilateerde en verstrikte aanvoerende arteriolen en afvoerende aderen zonder tussenliggend capillair netwerk, en kan asymptomatisch zijn of leiden tot, afhankelijk van de locatie en omvang van de AVM, hoofdpijn met variabele gradaties van ernst, gegeneraliseerde of focale insulten, focale neurologische defecten (zwakte, gevoelloosheid, moeilijkheden met spraak, functieverlies van het zicht) of potentieel fatale intracraniële hemorragie in geval van scheuren van de AVM."},"pt":{"name":"Malformação arterio-venosa cerebral"},"pl":{"name":"Malformacja tętniczo-żylna mózgu","synonyms":["Przetoka tętniczo-żylna mózgu","Wewnątrzczaszkowe malformacje tętniczo-żylne"]},"cs":{"name":"Arteriovenózní malformace v mozku","synonyms":["Cerebrální arteriovenózní shunt","Intrakraniální arteriovenózní malformace","Arteriovenózní píštěl v mozku"]},"uk":{"name":"Церебральна артеріовенозна мальформація","synonyms":["Внутрішньочерепна артеріовенозна мальформація"],"definition":"Cerebral arteriovenous malformation (AVM) is a congenital malformative communication between the veins and the arteries in the brain in the form of a nidus, an anatomical structure composed of dilated and tangled supplying arterioles and drainage veins with no intervening capillary bed, that can be asymptomatic or cause, depending on the location and the size of the AVM, headaches of varying severity, generalized or focal seizures, focalneurological defects (weakness, numbness, speech difficulties, vision loss) or potentially fatal intracranial hemorrhage in case the AVM ruptures."},"zh":{"name":"脑动静脉畸形","synonyms":["颅内动静脉畸形"]},"tr":{"name":"Serebral arteriyovenöz malformasyon","synonyms":["İntrakraniyal arteriyovenöz malformasyon"]}},"xrefs":[{"source":"OMIM","code":"108010","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q28.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8B22.40","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"153256729"},{"source":"MONDO","code":"0007154","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D002538","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0917804","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3020","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10056371","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":371436,"name":"Genetic neurovascular malformation","classifications":[156]},{"orpha":211240,"name":"Genetic vascular anomaly","classifications":[156]},{"orpha":715750,"name":"Intracranial fast-flow vascular malformation","classifications":[147,181,198]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["No data available"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":6.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-10-18","source":"31465157[PMID]_25175445[PMID]_25465120[PMID]","terms":[{"hpo":"HP:0100659","label":"Abnormality of the cerebral vasculature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100784","label":"Peripheral arteriovenous fistula","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100761","label":"Visceral angiomatosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001342","label":"Cerebral hemorrhage","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030746","label":"Intraventricular hemorrhage","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002354","label":"Memory impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:5200044","label":"Reduced attention regulation","frequency":"Occasional (29-5%)","criteria":null}]}}