{"orpha":65681,"name":"Vaginal atresia","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare vaginal malformation characterized by congenital uterovaginal outflow tract obstruction due to failure of the urogenital sinus to form the caudal aspect of the vagina, which is then replaced by fibrous tissue. The malformation may occur as an isolated developmental defect or in association with other anomalies, such as cervical agenesis, imperforate hymen, and bicornuate bicervical uterus. Presenting signs and symptoms include primary amenorrhea, cyclic pelvic pain, abdominal pain, dyspareunia, pelvic mass, menstrual disorder, and periodic fever.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-65681/","orphanet_url":"https://www.orpha.net/en/disease/detail/65681","names":{"fr":{"name":"Atrésie du vagin","synonyms":["Atrésie vaginale"],"definition":"Malformation vaginale rare, caractérisée par l'obstruction congénitale du canal utérovaginal en raison de l'absence de transformation du sinus urogénital en partie caudale du vagin, qui est alors remplacé par des tissus fibreux. La malformation peut se manifester par un défaut de développement isolé ou en association avec d'autres anomalies, telles qu'une agénésie cervicale, un hymen imperforé et un utérus bicorne bicervical. Les signes et symptômes initiaux comprennent une aménorrhée primaire, des douleurs pelviennes cycliques, des douleurs abdominales, une dyspareunie, une masse pelvienne, un trouble menstruel et une fièvre périodique."},"de":{"name":"Vaginalatresie","definition":"Eine seltene vaginale Fehlbildung, die durch eine angeborene Obstruktion des uterovaginalen Ausflusstrakts gekennzeichnet ist, da der Sinus urogenitalis den kaudalen Aspekt der Vagina nicht ausbildet, der dann durch fibröses Gewebe ersetzt wird. Die Fehlbildung kann als isolierte Entwicklungsstörung oder in Verbindung mit anderen Anomalien auftreten, wie z. B. Zervixagenesie, imperforiertes Hymen und Uterus bicornis. Zu den Anzeichen und Symptomen gehören primäre Amenorrhoe, zyklische Beckenschmerzen, Unterleibsschmerzen, Dyspareunie, Gewebeverdichtung im Becken, Menstruationsstörungen und periodisches Fieber."},"es":{"name":"Atresia vaginal","definition":"Es una malformación vaginal poco frecuente caracterizada por la obstrucción congénita del tracto de salida uterovaginal debido al fracaso del seno urogenital para formar el aspecto caudal de la vagina, que es sustituido por tejido fibroso. La malformación puede ocurrir como un defecto de desarrollo aislado o en asociación con otras anomalías, como la agenesia cervical, el himen imperforado y el útero bicorne bicervical. Los signos y síntomas de presentación incluyen amenorrea primaria, dolor pélvico cíclico, dolor abdominal, dispareunia, masa pélvica, trastorno menstrual y fiebre periódica."},"it":{"name":"Atresia vaginale","definition":"Si tratta di una malformazione rara della vagina, caratterizzata da un'ostruzione congenita del tratto di deflusso utero-vaginale, secondaria alla mancata trasformazione del seno urogenitale nella porzione caudale della vagina, che viene quindi sostituita da tessuto fibroso. La malformazione può rappresentare un difetto isolato dello sviluppo, oppure associarsi ad altre anomalie, come l'agenesia cervicale, l'imene imperforato e l'utero bicorne bicervicale. I sintomi d'esordio comprendono l'amenorrea primaria, il dolore pelvico ciclico, il dolore addominale, la dispareunia, la presenza di una massa pelvica, le anomalie del ciclo mestruale e la febbre periodica."},"nl":{"name":"Vaginale atresie","definition":"Een zeldzame malformatie van vagina, gekenmerkt door congenitale obstructie van uterovaginale uitstroombaan door gefaalde vorming van urogenitale sinus als caudale zijde van de vagina, die vervangen wordt door fibreus weefsel. De malformatie kan voorkomen als een geïsoleerd ontwikkelingsdefect of in associatie met andere anomalieën, zoals agenesie van cervix, hymen imperforatus, en bicervicale uterus bicornis. Presenterende verschijnselen en symptomen zijn onder meer primaire amenorroe, cyclische pijn in bekken, abdominale pijn, dyspareunie, pelviene massa, menstruatiestoornis, en periodieke koorts."},"pt":{"name":"Atresia da vagina"},"pl":{"name":"Atrezja pochwy"},"cs":{"name":"Atrezie pochvy"},"uk":{"name":"Атрезія піхви","definition":"A rare vaginal malformation characterized by congenital uterovaginal outflow tract obstruction due to failure of the urogenital sinus to form the caudal aspect of the vagina, which is then replaced by fibrous tissue. The malformation may occur as an isolated developmental defect or in association with other anomalies, such as cervical agenesis, imperforate hymen, and bicornuate bicervical uterus. Presenting signs and symptoms include primary amenorrhea, cyclic pelvic pain, abdominal pain, dyspareunia, pelvic mass, menstrual disorder, and periodic fever."},"zh":{"name":"阴道闭锁"},"tr":{"name":"Vajinal atrezi"}},"xrefs":[{"source":"ICD-10","code":"Q52.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LB42.5","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1126562070"},{"source":"MONDO","code":"0019007","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1321884","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10046879","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":180151,"name":"Rare vaginal malformation","classifications":[147,185,201,205,233]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-09-14","source":"28915489[PMID]","terms":[{"hpo":"HP:0000148","label":"Vaginal atresia","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0031500","label":"Abdominal mass","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000130","label":"Abnormality of the uterus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030011","label":"Imperforate hymen","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031501","label":"Pelvic mass","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000786","label":"Primary amenorrhea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030160","label":"Cervicitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003762","label":"Uterus didelphys","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100674","label":"Vaginal hematocele","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000813","label":"Bicornuate uterus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000145","label":"Transverse vaginal septum","frequency":"Very rare (<4-1%)","criteria":null}]}}