{"orpha":693815,"name":"Uterine arteriovenous malformation","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Arteriovenous malformation of the uterus","UAVM","UVM","Uterine vascular malformation"],"definition":"A rare visceral arteriovenous malformation characterized by abnormal connections between uterine arteries and veins. Vaginal bleeding is the most common clinical feature, may be very severe, and is refractory to conventional treatments. Variable clinical features may include abdominal pulsatile masses, frequent urination or urinary incontinence, dyspareunia, and hematuria. Some patients remain asymptomatic.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-693815/","orphanet_url":"https://www.orpha.net/en/disease/detail/693815","names":{"fr":{"name":"Malformation artérioveineuse utérine","synonyms":["MAV utérine","MAVU","Malformation artérioveineuse de l'uterus"],"definition":"Malformation artérioveineuse viscérale rare caractérisée par des connexions anormales entre les artères et les veines utérines. Les saignements vaginaux sont le signe clinique le plus courant. Ils peuvent être très abondants et résistent aux traitements conventionnels. Les signes cliniques inconstants peuvent inclure des masses pulsatiles abdominales, des mictions fréquentes ou une incontinence urinaire, une dyspareunie et une hématurie. Certaines patientes restent asymptomatiques."},"de":{"name":"Arteriovenöse Fehlbildung des Uterus","synonyms":["UAVM","UVM","Vaskuläre Malformation des Uterus"],"definition":"Eine seltene viszerale arteriovenöse Fehlbildung, die durch abnormale Verbindungen zwischen Gebärmutterarterien und -venen gekennzeichnet ist. Vaginale Blutungen sind das häufigste klinische Symptom, können sehr stark sein und sprechen auf herkömmliche Behandlungen nicht an. Zu den variablen klinischen Symptomen können pulsierende Raumforderungen im Bauchraum, häufiges Wasserlassen oder Harninkontinenz, Dyspareunie und Hämaturie gehören. Einige Patientinnen bleiben symptomfrei."},"es":{"name":"Malformación arteriovenosa uterina","synonyms":["Malformación arteriovenosa del útero","Malformación vascular uterina","UAVM","UVM"],"definition":"Es una malformación arteriovenosa visceral poco frecuente caracterizada por conexiones anómalas entre las arterias y las venas uterinas. El sangrado vaginal es la manifestación clínica más común, puede ser muy grave y es refractario a los tratamientos convencionales. Las características clínicas variables pueden incluir masas pulsátiles abdominales, micción frecuente o incontinencia urinaria, dispareunia y hematuria. Algunas pacientes permanecen asintomáticas."},"it":{"name":"Malformazione arterovenosa uterina","synonyms":["Malformazione arterovenosa dell'utero","UAVM","UVM","Malformazione vascolare uterina"]},"nl":{"name":"Arterioveneuze malformatie van uterus","synonyms":["Arterioveneuze malformatie van baarmoeder","UAVM","UVM","Uteriene arterioveneuze malformatie","Uteriene vasculaire malformatie"],"definition":"Een zeldzame viscerale arterioveneuze malformatie, gekenmerkt door abnormale verbindingen tussen slagaders en aders van de baarmoeder. Vaginale bloeding is het meest voorkomende klinische kenmerk, kan zeer ernstig zijn, en is refractair tegen conventionele behandelingen. Mogelijke variabele klinische kenmerken zijn onder meer pulsatiele massa in abdomen, frequente mictie of urinaire incontinentie, dyspareunie, en hematurie. Sommige patiënten blijven asymptomatisch."},"pt":{"name":"Malformação arteriovenosa uterina","synonyms":["Malformação arteriovenosa do útero","Malformação vascular uterina","UAVM","UVM"]},"pl":{"name":"Malformacja tętniczo-żylna macicy","synonyms":["Arteriovenous malformation of the uterus","UAVM","UVM","Uterine vascular malformation"]},"cs":{"name":"Uterine arteriovenous malformation","synonyms":["Arteriovenous malformation of the uterus","UAVM","UVM","Uterine vascular malformation"]}},"xrefs":[{"source":"ICD-10","code":"Q27.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA90.32","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1384447605"}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":101433,"name":"Rare urogenital disease","classifications":[185]},{"orpha":693855,"name":"Visceral fast-flow vascular malformation","classifications":[147,198]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":150.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}