{"orpha":1053,"name":"Vein of Galen malformation","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["VOGM","Vein of Galen arteriovenous malformation"],"definition":"A rare intracranial congenital high-flow vascular malformation characterized by arteriovenous shunts draining into the median prosencephalic vein of Markowski, embryonic precursor of the vein of Galen, typically presenting in neonates or infants.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1053/","orphanet_url":"https://www.orpha.net/en/disease/detail/1053","names":{"fr":{"name":"Malformation de la veine de Galien","synonyms":["Malformation atério-veineuse de la veine de Galien","VGAM","VOGM"],"definition":"Malformation vasculaire intracrânienne congénitale rare à haut débit caractérisée par des shunts artérioveineux se drainant dans la veine médiane prosencéphalique de Markowski, précurseur embryonnaire de la veine de Galien, se présentant généralement chez le nouveau-né ou le nourrisson."},"de":{"name":"Vena Galeni-Malformation","synonyms":["Aneurysmatische Fehlbildung der Vena Galeni","VOGM"],"definition":"Eine seltene angeborene intrakranielle Fehlbildung mit hohem Gefäßdurchfluss, die durch arteriovenöse Shunts gekennzeichnet ist. Diese münden typischerweise bei Neugeborenen oder Säuglingen in die Vena prosencephalica mediana (Vena Markowski), einer embryonalen Vorstufe der Vena Galeni."},"es":{"name":"Malformación de la vena de Galeno","synonyms":["MAVG","Malformaciones arteriovenosas de la vena de Galeno"],"definition":"Es una malformación vascular cerebral de alto flujo congénita y poco frecuente caracterizada por derivaciones arteriovenosas que drenan en la vena prosencefálica media de Markowski, precursora embrionaria de la vena de Galeno, que se presenta típicamente en recién nacidos o lactantes."},"it":{"name":"Malformazione della vena di Galeno","synonyms":["VOGM","Malformazioni arterovenose della vena di Galeno","Malformazione artero-venosa della vena di Galeno"]},"nl":{"name":"Malformatie van vena Galeni","synonyms":["Arterioveneuze malformatie van vena Galeni","Malformatie van ader van Galenus","VOGM"],"definition":"Een zeldzame intracraniale congenitale vasculaire malformatie met hoge flow, die wordt gekenmerkt door arterioveneuze fistels die uitmonden in de mediane ader van het prosencefalon of de ader van Markowski, een embryonale voorloper van de ader van Galenus, en die zich doorgaans presenteert bij neonaten of zuigelingen."},"pt":{"name":"Malformação da veia Galeno","synonyms":["VOGM","Malformação arteriovenosa da veia Galeno"],"definition":"Malformação vascular congénita rara intracraniana de alto fluxo caracterizada por derivações arteriovenosas que drenam para a veia prosencefálica mediana Markowski, precursora embrionária da veia Galeno, geralmente presente em recém-nascidos ou crianças."},"pl":{"name":"Malformacja żyły Galena","synonyms":["Malformacje tętniczo-żylne żyły Galena"]},"cs":{"name":"Aneuryzma Galénovy žíly","synonyms":["Arteriovenózní malformace Galénovy žíly"]},"uk":{"name":"Аневризматична мальформація вени Галена","synonyms":["Артеріовенозні мальформації Галена"],"definition":"A congenital vascular malformation characterized by dilation of the embryonic precursor of the vein of Galen. It is a sporadic lesion that occurs during embryogenesis."},"zh":{"name":"静脉Galen动脉瘤样畸形","synonyms":["静脉Galen动脉瘤样畸形"]},"tr":{"name":"Galen veni anevrizmal malformasyonu","synonyms":["Galen arteriyovenöz malformasyonların toplar damarı"]}},"xrefs":[{"source":"ICD-10","code":"Q28.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA90.20","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1884295064"},{"source":"MONDO","code":"0015196","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536535","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0431420","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5467","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10077889","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":[{"symbol":"EPHB4","name":"EPH receptor B4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"29444212[PMID]","hgnc":"3395","ensembl":"ENSG00000196411","omim":"600011","loci":["7q22.1"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET_1997895[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0100659","label":"Abnormality of the cerebral vasculature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002617","label":"Dilatation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100784","label":"Peripheral arteriovenous fistula","frequency":"Frequent (79-30%)","criteria":null}]}}