{"orpha":2856,"name":"Persistent Müllerian duct syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["PMDS","Persistent Müllerian derivatives"],"definition":"A rare disorder/difference of sex development (DSD) characterized by the persistence of Müllerian derivatives, the uterus and/or fallopian tubes, in otherwise normally virilized boys.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2856/","orphanet_url":"https://www.orpha.net/en/disease/detail/2856","names":{"fr":{"name":"Syndrome de persistance des canaux de Müller","synonyms":["Dérivés müllériens persistants","Homme à utérus","PMDS"],"definition":"Maladie rare/différence du développement sexuel (DSD) caractérisée par la persistance de dérivés müllériens, de l'utérus et/ou des trompes de Fallope, chez des garçons par ailleurs normalement virilisés."},"de":{"name":"Müller-Gang-Persistenzsyndrom","synonyms":["Müller-Gang, persistierender","Müllersche Derivative, persistierende","PMDS"],"definition":"Eine seltene Störung/Abweichung der Geschlechtsentwicklung (DSD), die durch das Fortbestehen Müllerschen Derivate, der Gebärmutter und/oder Eileitern bei ansonsten normal virilisierten Jungen gekennzeichnet ist."},"es":{"name":"Síndrome de los conductos de Müller persistentes","synonyms":["Derivados mullerianos persistentes","PMDS","Síndrome del conducto mülleriano persistente"],"definition":"Es un síndrome de desarrollo sexual diferente (DSD) poco frecuente caracterizado por la persistencia de derivados müllerianos (útero y/o trompas de Falopio), en niños varones por lo demás normalmente virilizados."},"it":{"name":"Sindrome da persistenza dei dotti mülleriani","synonyms":["Derivati mülleriani persistenti","PMDS"]},"nl":{"name":"Persisterende gang van Müller-syndroom","synonyms":["PMDS","Persisterende Mülleriaanse derivaten"],"definition":"Een zeldzame geslachtsontwikkelingsstoornis (DSD), gekenmerkt door persistentie van Mülleriaanse derivaten, uterus en/of eileiders bij voor het overige normaal geviriliseerde jongens."},"pt":{"name":"Síndrome de canal de Müller persistente","synonyms":["Derivados mullerianos persistentes"],"definition":"A síndrome do canal de Müller persistente (PMDS) é uma doença rara do desenvolvimento sexual caracterizada pela persistência de derivativos müllerianos, útero e/ou trompas de Falópio, em rapazes normalmente virilizados."},"pl":{"name":"Zespół przetrwałego przewodu Mullera","synonyms":["PMDS","Przetrwałe struktury Mullera"]},"cs":{"name":"Syndrom perzistujícího Müllerova vývodu","synonyms":["PMDS","Perzistující Müllerovy deriváty"]},"uk":{"name":"Синдром персистуючої Мюллерової протоки","synonyms":["Стійкі похідні Мюллера","PMDS"],"definition":"Persistent Müllerian duct syndrome (PMDS) is a rare disorder of sex development (DSD) characterized by the persistence of Müllerian derivatives, the uterus and/or fallopian tubes, in otherwise normally virilized boys."},"zh":{"name":"苗勒管持续存在综合征","synonyms":["苗勒管衍生物持续存在"]},"tr":{"name":"Kalıcı Müllerian kanal sendromu","synonyms":["PMDS","Kalıcı Müllerian türevleri"]}},"xrefs":[{"source":"OMIM","code":"261550","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q55.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2A.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"697796373"},{"source":"MONDO","code":"0009857","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536665","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1849930","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"8435","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10081352","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":325351,"name":"46,XY difference of sex development of endocrine origin","classifications":[147,185,193]},{"orpha":399824,"name":"Rare disorder with obstructive azoospermia","classifications":[201]},{"orpha":400003,"name":"Rare genetic disorder with obstructive azoospermia","classifications":[156]}],"children":[],"genes":[{"symbol":"AMH","name":"anti-Mullerian hormone","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23295284[PMID]","hgnc":"464","ensembl":"ENSG00000104899","omim":"600957","loci":["19p13.3"]},{"symbol":"AMHR2","name":"anti-Mullerian hormone receptor type 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23295284[PMID]","hgnc":"465","ensembl":"ENSG00000135409","omim":"600956","loci":["12q13.13"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":300.0,"area":"Worldwide","status":"Validated","source":"35386545[PMID]"},{"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":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000037","label":"Male pseudohermaphroditism","frequency":"Frequent (79-30%)","criteria":null}]}}