{"orpha":2578,"name":"Mayer-Rokitansky-Küster-Hauser syndrome type 2","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Atypical MRKH syndrome","MRKH syndrome type 2","MURCS association","Müllerian duct aplasia-renal dysplasia-cervical somite anomalies syndrome"],"definition":"A form of Mayer-Rokitansky-Küster-Hauser syndrome, characterized by congenital aplasia of the uterus and upper two-thirds of the vagina that is associated with at least one other malformation such as renal, vertebral, or, less commonly, auditory and cardiac defects.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2578/","orphanet_url":"https://www.orpha.net/en/disease/detail/2578","names":{"fr":{"name":"Syndrome de Mayer-Rokitansky-Küster-Hauser type 2","synonyms":["Association MURCS","Syndrome MRKH atypique","Syndrome MRKH type 2","Syndrome d'aplasie müllérienne-aplasie rénale-anomalies cervicothoraciques"],"definition":"Une anomalie rare du développement embryonnaire caractérisée par une aplasie congénitale de l'utérus et des 2/3 supérieurs du vagin qui est associée à au moins une autre malformation telles que les défauts rénaux, vertébraux ou moins fréquemment, auditifs et cardiaques. L'acronyme MURCS (aplasie des canaux de Müller, dysplasie rénale, dysplasie des vertèbres cervicales) est également utilisé."},"de":{"name":"Mayer-Rokitansky-Küster-Hauser-Syndrom Typ 2","synonyms":["Atypisches MRKH-Syndrom","MRKH-Syndrom Typ 2","MURCS-Assoziation","Müller-Gang-Aplasie - Nierenaplasie - Dysplasie der zerviko-thorakalen Somiten"],"definition":"Das Mayer-Rokitansky-Küster-Hauser-Syndrom (MRKH-Syndrom) Typ 2 ist ein Subtyp des MRKH-Syndroms (siehe diesen Begriff). Es ist gekennzeichnet durch eine angeborene Aplasie von Uterus und oberen 2/3 der Vagina, die mit mindestens einer weiteren Fehlbildung wie Nieren-, Wirbelsäulen- oder, seltener, Hör- und Herzfehler einhergeht. Auch das Akronym MURCS (<i>MÜllerian duct aplasia, Renal dysplasia, Cervical Somite anomalies</i>) ist im Sprachgebrauch verbreitet."},"es":{"name":"Síndrome de Mayer-Rokitansky-Küster-Hauser tipo 2","synonyms":["Asociación MURCS","Síndrome MRKH tipo 2","Síndrome de MRKH atípico","Síndrome de aplasia del conducto mülleriano-displasia renal-anomalías de los somitas cervicales"],"definition":"El síndrome de Mayer-Rokitansky-Küster-Hauser (MRKH) tipo 2, una forma del síndrome de MRKH (consulte este término), se caracteriza por aplasia congénita del útero y de los 2/3 superiores de la vagina, estando asociado además con al menos otra malformación ya sea renal, vertebral, u ocasionalmente, defectos auditivos y cardiacos. El acrónimo MURCS (aplasia del conducto MUlleriano, displasia Renal, anomalías de los Somitas Cervicales) también se utiliza."},"it":{"name":"Sindrome di Mayer-Rokitansky-Küster-Hauser, tipo 2","synonyms":["Associazione MURCS","Sindrome MRKH atipica","Sindrome MRKH, tipo 2","Sindrome aplasia dei dotti mülleriani-displasia renale-anomalie dei somiti cervicali"]},"nl":{"name":"Syndroom van Mayer-Rokitansky-Küster-Hauser type 2","synonyms":["Aplasie van gang van Müller - nierdysplasie - anomalieën van cervicale somieten-syndroom","Atypisch MRKH-syndroom","MRKH-syndroom type 2","MURCS-associatie"],"definition":"Syndroom van Mayer-Rokitansky-Küster-Hauser (MRKH) type 2, een vorm van MRKH-syndroom (zie deze term), wordt gekarakteriseerd door congenitale aplasie van de uterus en het bovenste 2/3 van de vagina, geassocieerd met minstens één andere malformatie zoals renale, vertebrale, of, minder vaak voorkomend, auditieve en cardiale defecten. Het acroniem MURCS (aplasie van het kanaal van Müller (MU), renale dysplasie (R), cervicale somietanomalieën (CS)) wordt ook gebruikt."},"pt":{"name":"Síndrome Mayer-Rokitansky-Küster-Hauser tipo 2","synonyms":["Associação MURCS","Síndrome MRKH tipo 2","Síndrome de aplasia dos ducto müllerianos-displasia renal-anomalias dos sómitos cervicais"]},"pl":{"name":"Zespół Mayera, Rokitansky'ego, Küstera i Hausera typu 2","synonyms":["Asocjacja MURCS","Atypowy zespół MRKH","Zespół aplazji przewodów Mulleria, dysplazji nerek i anomalii somitów szyjnych","Zespół MRKH typu 2"]},"cs":{"name":"Mayerův-Rokitanského-Küsterův-Hauserův syndrom, typ 2","synonyms":["Atypický MRKH syndrom","MRKH syndrom, typ 2","MURCS asociace","Syndrom zahrnující aplázii Mulleriánského duktu, renální dysplázii a anomálii krčních somitů","Mayer-Rokitansky-Küster-Hauserův syndrom, typ 2"]},"uk":{"name":"Синдром Майєра-Рокітанського-Кюстера-Хаузера, тип 2","synonyms":["Атиповий синдром МРКГ","Синдром MRKH типу 2","Аплазія Мюллерової протоки - дисплазія нирок - синдром аномалій сомітів шийки матки","Асоціація MURCS"],"definition":"A form of Mayer-Rokitansky-Küster-Hauser syndrome, characterized by congenital aplasia of the uterus and upper two-thirds of the vagina that is associated with at least one other malformation such as renal, vertebral, or, less commonly, auditory and cardiac defects."},"zh":{"name":"Mayer-Rokitansky-Küster-Hauser综合征2型","synonyms":["Müllerian小管发育不良-肾脏发育异常-颈节异常综合征"]},"tr":{"name":"Mayer-Rokitansky-Küster-Hauser sendromu tip 2","synonyms":["MURCS asosiasyonu","MRKH sendromu tip 2","Atipik MRKH sendromu","Müllerian kanal aplazisi-renal displazi-servikal somit anomalileri sendromu"]}},"xrefs":[{"source":"OMIM","code":"601076","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2F.14","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1521808255"},{"source":"MONDO","code":"0010989","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4305568","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5513","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":1092,"name":"Renal-genital-middle ear anomalies","status":"inactive"}],"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]},{"orpha":117573,"name":"Syndromic anorectal malformation","classifications":[147,156,182,233]}],"children":[],"genes":[{"symbol":"HNF1B","name":"HNF1 homeobox B","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"36282544[PMID]","hgnc":"11630","ensembl":"ENSG00000275410","omim":"189907","loci":["17q12"]},{"symbol":"WNT4","name":"Wnt family member 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"18182450[PMID]","hgnc":"12783","ensembl":"ENSG00000162552","omim":"603490","loci":["1p36.12"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Not applicable"],"onset":["Adolescent","Antenatal","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.0,"area":"Europe","status":"Not yet validated","source":"19821675[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0008684","label":"Aplasia/hypoplasia of the uterus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000027","label":"Azoospermia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000813","label":"Bicornuate uterus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000086","label":"Ectopic kidney","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002162","label":"Low posterior hairline","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000104","label":"Renal agenesis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000110","label":"Renal dysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000772","label":"Abnormal rib morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003422","label":"Vertebral segmentation defect","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional (29-5%)","criteria":null}]}}