{"orpha":2138,"name":"46,XX ovotesticular difference of sex development","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["46,XX ovotesticular DSD","46,XX ovotesticular disorder of sex development"],"definition":"A rare difference of sex development (DSD) characterized by histologically confirmed testicular and ovarian tissue in an individual with a 46,XX karyotype.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2138/","orphanet_url":"https://www.orpha.net/en/disease/detail/2138","names":{"fr":{"name":"Différence ovotesticulaire du développement sexuel 46,XX","synonyms":["ADS ovotesticulaire 46,XX","Anomalie ovotesticulaire du développement sexuel 46,XX","DSD 46,XX ovotesticulaire"],"definition":"Anomalie rare du développement sexuel (ADS) caractérisée par la présence de tissu testiculaire et ovarien confirmée par l'examen histologique chez un individu de caryotype 46,XX."},"de":{"name":"Störung der Geschlechtsentwicklung 46,XX, ovotestikuläre","synonyms":["46,XX-DSD, ovotestikuläre"],"definition":"Eine seltene Variante der Geschlechtsentwicklung ((<i>disorder of sex development</i>, DSD), die gekennzeichnet ist durch histologisch gesichertes Testis- und Ovarialgewebe bei einem Individuum mit dem Karyotyp 46, XX."},"es":{"name":"Desarrollo sexual diferente 46,XX ovotesticular","synonyms":["DSD 46,XX ovotesticular","Trastorno del desarrollo sexual 46,XX ovotesticular"],"definition":"Es una forma poco frecuente de desarrollo sexual diferente (DSD) poco frecuente caracterizado por la presencia de tejido testicular y ovárico, histológicamente confirmado, en un individuo con un cariotipo 46,XX."},"it":{"name":"Disturbo ovotesticolare dello sviluppo sessuale 46,XX","synonyms":["DSD ovotesticolare 46,XX","Ermafroditismo vero"],"definition":"Si tratta di una malattia rara dello sviluppo sessuale (DSD) caratterizzata dalla presenza di tessuto testicolare e ovarico, confermata con gli esami istologici, in un soggetto a cariotipo 46,XX."},"nl":{"name":"46,XX ovotesticulaire geslachtsontwikkelingsstoornis","synonyms":["46,XX ovotesticulaire DSD"],"definition":"Een zeldzame variatie in geslachtsontwikkeling (DSD), gekenmerkt door histologisch bevestigd testiculair en ovarieel weefsel bij een individu met een 46,XX-karyotype."},"pt":{"name":"Doença do desenvolvimento sexual 46,XX ovotesticular","synonyms":["Hermafroditismo verdadeiro"],"definition":"Diferença de desenvolvimento sexual (DDS) rara, caracterizada por tecido testicular e ovárico confirmado histologicamente num indivíduo com cariótipo 46,XX."},"pl":{"name":"Jajnikowo-jądrowe zaburzenie różnicowania płci z kariotypem 46,XX","synonyms":["46,XX jajnikowo-jądrowe ZRP","Hermafrodytyzm prawdziwy"],"definition":"Rzadkie zaburzenie różnicowania płci, charakteryzująca się obecnością histologicznie potwierdzonej tkanki jąder i jajników u osoby z kariotypem 46,XX."},"cs":{"name":"46,XX ovotestikulární poruchy sexuálního vývoje","synonyms":["46, XX ovotestikulární DSD","Pravý hermafroditismus"]},"uk":{"name":"46,XX овотестикулярне порушення статевої диференціації","synonyms":["46,XX овотестикулярний розлад статевого розвитку","46,XX овотестикулярна DSD"],"definition":"A rare difference of sex development (DSD) characterized by histologically confirmed testicular and ovarian tissue in an individual with a 46,XX karyotype."},"zh":{"name":"46,XX 卵睾两性畸形","synonyms":["46,XX卵睾型DSD"]},"tr":{"name":"46, XX ovotestiküler cinsiyet gelişim bozukluğu","synonyms":["46, XX ovotestiküler DSD"]}},"xrefs":[{"source":"OMIM","code":"400045","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617480","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618901","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q56.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2A.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1395652673"},{"source":"MONDO","code":"0016281","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D050090","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679613","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":325055,"name":"46,XX disorder of gonadal development","classifications":[147,156,185,193]},{"orpha":98074,"name":"Gonadal dysgenesis of gynecological interest","classifications":[156,205]},{"orpha":506213,"name":"Rare disorder potentially indicated for kidney transplant","classifications":[233]},{"orpha":399877,"name":"Rare female infertility due to gonadal dysgenesis","classifications":[156,201]}],"children":[],"genes":[{"symbol":"NR5A1","name":"nuclear receptor subfamily 5 group A member 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"27490115[PMID]","hgnc":"7983","ensembl":"ENSG00000136931","omim":"184757","loci":["9q33.3"]},{"symbol":"SOX9","name":"SRY-box transcription factor 9","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22051515[PMID]","hgnc":"11204","ensembl":"ENSG00000125398","omim":"608160","loci":["17q24.3"]},{"symbol":"SRY","name":"sex determining region Y","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"1740318[PMID]_11912443[PMID]","hgnc":"11311","ensembl":"ENSG00000184895","omim":"480000","loci":["Yp11.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Adolescent","Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":500.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]_23926413[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":2.5,"area":"Worldwide","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Europe","status":"Validated","source":"ORPHANET_[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000008","label":"Abnormal morphology of female internal genitalia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012856","label":"Abnormal scrotal rugation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000022","label":"Abnormality of male internal genitalia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000130","label":"Abnormality of the uterus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000062","label":"Ambiguous genitalia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000048","label":"Bifid scrotum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000144","label":"Decreased fertility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008736","label":"Hypoplasia of penis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000147","label":"Polycystic ovaries","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000046","label":"Small scrotum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010459","label":"True hermaphroditism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100779","label":"Urogenital sinus anomaly","frequency":"Very frequent (99-80%)","criteria":null}]}}