{"orpha":247775,"name":"Mayer-Rokitansky-Küster-Hauser syndrome type 1","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Congenital absence of uterus and vagina","MRKH syndrome type 1","Rokitansky sequence"],"definition":"Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1, a form of MRKH syndrome, is an isolated form of congenital aplasia of the uterus and 2/3 of the vagina occurring in otherwise phenotypically normal females.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-247775/","orphanet_url":"https://www.orpha.net/en/disease/detail/247775","names":{"fr":{"name":"Syndrome de Mayer-Rokitansky-Küster-Hauser type 1","synonyms":["Aplasie utéro-vaginale","Syndrome MRKH type 1","Séquence de Rokitansky"],"definition":"Forme du syndrome MRKH qui est une forme isolée d'aplasie congénitale de l'utérus et des 2/3 du vagin survenant chez des femmes par ailleurs phénotypiquement normales."},"de":{"name":"Mayer-Rokitansky-Küster-Hauser-Syndrom Typ 1","synonyms":["Kongenitales Fehler von Uterus und Vagina","MRKH-Syndrom Typ 1","Rokitansky-Sequenz"],"definition":"Das Mayer-Rokitansky-Küster-Hauser (MRKH)-Syndrom Typ 1 ist ein Subtyp des MRKH-Syndroms (siehe dort). Es bezeichnet eine isolierte Form der angeborenen Aplasie von Uterus und 2/3 der Vagina, die bei ansonsten phänotypisch normalen Frauen auftritt."},"es":{"name":"Síndrome de Mayer-Rokitansky-Küster-Hauser tipo 1","synonyms":["Ausencia congénita de útero y vagina","Secuencia de Rokitansky","Síndrome MRKH tipo 1"],"definition":"El síndrome de Mayer-Rokitansky-Küster-Hauser (MRKH) tipo 1, una variante del síndrome de MRKH (consulte este término), es una forma aislada de aplasia congénita del útero y de los 2/3 superiores de la vagina que ocurre en mujeres que por lo demás son fenotípicamente normales."},"it":{"name":"Sindrome di Mayer-Rokitansky-Küster-Hauser tipo 1","synonyms":["Assenza congenita di utero e vagina","Sequenza di Rokitansky","Sindrome MRKH, tipo 1"],"definition":"La sindrome di Mayer-Rokitansky-Küster-Hauser (MRKH) tipo 1 è una forma della sindrome MRKH (si veda questo termine), che consiste in un'aplasia congenita isolata dell'utero e dei due terzi della vagina nelle femmine con un fenotipo per il resto normale."},"nl":{"name":"Syndroom van Mayer-Rokitansky-Küster-Hauser type 1","synonyms":["Congenitale afwezigheid van uterus en vagina","MRKH-syndroom type 1","Rokitansky-sequentie"],"definition":"Syndroom van Mayer-Rokitansky-Küster-Hauser (MRKH) type 1, een vorm van MRKH-syndroom (zie deze term), is een geïsoleerde vorm van congenitale aplasie van de uterus en 2/3 van de vagina die voorkomt bij vrouwen die verder fenotypisch normaal zijn."},"pt":{"name":"Síndrome Mayer-Rokitansky-Küster-Hauser clássico","synonyms":["Ausência congénita de útero e vagina","Sequência Rokitansky","Síndrome MRKH tipo 1"]},"pl":{"name":"Zespół Mayera, Rokitansky'ego, Küstera i Hausera typu 1","synonyms":["Sekwencja Rokitansky'ego","Wrodzony brak macicy i pochwy","Zespół MRKH typu 1"]},"cs":{"name":"Mayerův-Rokitanského-Küster Hauserův syndrom, typ 1","synonyms":["MRKH syndrom, typ 1","Rokitanského sekvence","Vrozená aplázie dělohy a pochvy","Mayer-Rokitansky-Küster Hauserův syndrom, typ 1"]},"uk":{"name":"Синдром Майєра-Рокітанського-Кюстера-Хаузера, тип 1","synonyms":["Вроджена відсутність матки та піхви","Синдром MRKH, тип 1","Послідовність Рокитанського"],"definition":"Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1, a form of MRKH syndrome (see this term), is an isolated form of congenital aplasia of the uterus and 2/3 of the vagina occurring in otherwise phenotypically normal females."},"zh":{"name":"Mayer-Rokitansky-K³ster-Hauser综合征1型","synonyms":["先天性无子宫阴道"],"definition":"Mayer-Rokitansky-K³ster-Hauser（MRKH）综合征1型，是MRKH综合征（见该词条）的一种，一种孤立性先天性子宫发育不全和2/3阴道发育不全，发生在其他表型正常的女性中。"},"tr":{"name":"Mayer-Rokitansky-Küster-Hauser sendromu tip 1","synonyms":["Rokitansky dizisi","MRKH sendromu tip 1","Doğumsal uterus ve vajina yokluğu"]}},"xrefs":[{"source":"OMIM","code":"277000","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q51.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LB44.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0010173","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5566555","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4737","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":3109,"name":"Mayer-Rokitansky-Küster-Hauser syndrome","classifications":[147,156,185,188,201,205,233]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Not applicable"],"onset":["Adolescent","Antenatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}