{"orpha":3109,"name":"Mayer-Rokitansky-Küster-Hauser syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["MRKH syndrome","Rokitansky syndrome"],"definition":"A rare spectrum of Mullerian duct anomalies characterized by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3109/","orphanet_url":"https://www.orpha.net/en/disease/detail/3109","names":{"fr":{"name":"Syndrome de Mayer-Rokitansky-Küster-Hauser","synonyms":["Syndrome MRKH","Syndrome de Rokitansky"],"definition":"Spectre rare d'anomalies des canaux de Muller caractérisées par une aplasie congénitale de l'utérus et des deux tiers supérieurs du vagin chez des femmes par ailleurs phénotypiquement normales. Le syndrome de Mayer-Rokitansky-Küster-Hauser (MRKH) peut être classé en type&nbsp;1 (correspondant à une aplasie utérovaginale isolée) ou en type&nbsp;2 (correspondant à une aplasie utérovaginale associée à d'autres malformations)."},"de":{"name":"Mayer-Rokitansky-Küster-Hauser-Syndrom","synonyms":["MRKH-Syndrom","Rokitansky Sequenz","Rokitansky-Syndrom"],"definition":"Das Mayer-Rokitansky-Küster-Hauser (MRKH)-Syndrom beschreibt ein Spektrum von Anomalien der Müllerschen Gänge, die durch eine kongenitale Aplasie des Uterus und der oberen 2/3 der Vagina bei ansonsten phänotypisch normalen Frauen gekennzeichnet sind. Es kann entweder als MRKH-Syndrom Typ 1 (entspricht einer isolierten utero-vaginalen Aplasie) oder als MRKH-Syndrom Typ 2 (utero-vaginale Aplasie assoziiert mit anderen Fehlbildungen) klassifiziert werden (siehe diese Begriffe)."},"es":{"name":"Síndrome de Mayer-Rokitansky-Küster-Hauser","synonyms":["Síndrome MRKH","Síndrome de Rokitansky"],"definition":"El síndrome de Mayer-Rokitansky-Küster-Hauser (MRKH) describe un espectro de anomalías del conducto mulleriano caracterizado por aplasia congénita del útero y de los 2/3 superiores de la vagina en mujeres que por lo demás son fenotípicamente normales. Se clasifica bien como síndrome de MRKH tipo 1 (correspondiente a aplasia uterovaginal aislada) o como síndrome de MRKH de tipo 2 (aplasia uterovaginal asociada con otras malformaciones) (consulte estos términos)."},"it":{"name":"Sindrome di Mayer-Rokitansky-Küster-Hauser","synonyms":["Sindrome MRKH","Sindrome di Rokitansky"]},"nl":{"name":"Syndroom van Mayer-Rokitansky-Küster-Hauser","synonyms":["MRKH-syndroom","Syndroom van Rokitansky"],"definition":"Syndroom van Mayer-Rokitansky-Küster-Hauser (MRKH) beschrijft een spectrum van anomalieën van het kanaal van Müller dat wordt gekarakteriseerd door congenitale aplasie van de uterus en van het bovenste 2/3 van de vagina bij voor het overige fenotypisch normale vrouwen. Het kan geclassificeerd worden als MRKH-syndroom type 1 (dat overeenkomt met geïsoleerde utero-vaginale aplasie) of MRKH-syndroom type 2 (utero-vaginale aplasie geassocieerd met andere malformaties) (zie deze termen)."},"pt":{"name":"Síndrome Mayer-Rokitansky-Küster-Hauser","synonyms":["Síndrome MRKH","Síndrome Rokitansky"]},"pl":{"name":"Zespół Mayera,Rokitansky'ego,Küstera i Hausera","synonyms":["Zespół MRKH","Zespół Rokitansky'ego"]},"cs":{"name":"Mayerův-Rokitanského-Küsterův-Hauserův syndrom","synonyms":["MRKH syndrom","Rokitanského syndrom","Mayer-Rokitansky-Küster-Hauserův syndrom","Mayerův-Rokitanského-Küsterův syndrom","Mayer-Rokitansky-Küsterův syndrom"],"definition":"Mayerův-Rokitanského-Küsterův-Hauserův syndrom (MRKH) označuje širší spektrum poruch vývoje Mulleriánských vývodů charakterizovaných vrozenou aplázií (chyběním) dělohy a horních dvou třetin pochvy u jinak zdravých žen. Rozlišují se dva hlavní typy tohoto syndromu – typ 1 odpovídá samotné aplázii dělohy a části pochvy, typ 2 je pak spojen s dalšími vadami."},"uk":{"name":"Синдром Майєра-Рокітанського-Кюстера-Хаузера","synonyms":["Синдром MRKH","Синдром Рокітанського"],"definition":"A rare spectrum of Mullerian duct anomalies characterized by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations)."},"zh":{"name":"MRKH综合征","synonyms":["Rokitansky综合征"]},"tr":{"name":"Mayer-Rokitansky-Küster-Hauser sendromu","synonyms":["MRKH sendromu","Rokitansky sendromu"]}},"xrefs":[{"source":"OMIM","code":"277000","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"601076","qualifier":"BTNT","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":"index","validated":true,"icd11_uri":"1098660435"},{"source":"MONDO","code":"0017771","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0431648","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10065148","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":400025,"name":"Female infertility due to an implantation defect of genetic origin","classifications":[156]},{"orpha":180068,"name":"Partial bilateral aplasia of the Müllerian ducts","classifications":[147,156,185,205,233]},{"orpha":399882,"name":"Rare female infertility due to an implantation defect","classifications":[201]},{"orpha":93547,"name":"Syndromic renal or urinary tract malformation","classifications":[147,156,188,233]}],"children":[{"orpha":247775,"name":"Mayer-Rokitansky-Küster-Hauser syndrome type 1","type":"Clinical subtype"},{"orpha":2578,"name":"Mayer-Rokitansky-Küster-Hauser syndrome type 2","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"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"],"via":{"orpha":2578,"name":"Mayer-Rokitansky-Küster-Hauser syndrome type 2"}},{"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"],"via":{"orpha":2578,"name":"Mayer-Rokitansky-Küster-Hauser syndrome type 2"}}],"inheritance":["Autosomal dominant","Not applicable"],"onset":["Adolescent","Antenatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":11.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]_22740494[PMID]_17359527[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"1-5 / 10 000","value":0.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2025-12-01","source":"32819397[PMID]_39391975[PMID]","terms":[{"hpo":"HP:0000151","label":"Aplasia of the uterus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008726","label":"Hypoplasia of the vagina","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000786","label":"Primary amenorrhea","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000077","label":"Abnormality of the kidney","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000716","label":"Depression","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030016","label":"Dyspareunia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031703","label":"Abnormal ear morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003312","label":"Abnormal form of the vertebral bodies","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005107","label":"Abnormal sacrum morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0033511","label":"Addictive substance use","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010463","label":"Aplasia of the ovary","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007302","label":"Bipolar affective disorder","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000086","label":"Ectopic kidney","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031086","label":"Ectopic ovary","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030127","label":"Endometriosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000085","label":"Horseshoe kidney","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000122","label":"Unilateral renal agenesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002948","label":"Vertebral fusion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003422","label":"Vertebral segmentation defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001642","label":"Pulmonic stenosis","frequency":"Very rare (<4-1%)","criteria":null}]}}