{"orpha":443087,"name":"46,XY difference of sex development due to testicular 17,20-desmolase deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["46,XY disorder of sex development due to testicular 17,20-desmolase deficiency"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-443087/","orphanet_url":"https://www.orpha.net/en/disease/detail/443087","names":{"fr":{"name":"Différence du développement sexuel 46,XY par déficit en 17,20-desmolase testiculaire","synonyms":["Anomalie du développement sexuel 46,XY par déficit en 17,20-desmolase testiculaire"]},"de":{"name":"Störung der Geschlechtsentwicklung 46,XY, durch testikulären 17,20-Desmolase-Mangel"},"es":{"name":"Desarrollo sexual diferente 46,XY por deficiencia testicular de 17,20-desmolasa","synonyms":["DSD 46,XY por deficiencia testicular de 17,20-desmolasa","Trastorno del desarrollo sexual 46,XY por deficiencia testicular de 17,20-desmolasa"]},"it":{"name":"Disturbo 46,XY dello sviluppo sessuale da deficit testicolare di 17,20-desmolasi"},"nl":{"name":"46,XY-geslachtsontwikkelingsstoornis door testiculaire deficiëntie van 17,20-desmolase"},"pt":{"name":"Doença do desenvolvimento sexual 46,XY devida a deficiência da enzima 17,20-desmolase testicular"},"pl":{"name":"Zaburzenie róznicowania płci z kariotypem 46,XY z powodu niedoboru 17,20-desmolazy jądrowej","synonyms":["46,XY disorder of sex development due to testicular 17,20-desmolase deficiency"]},"cs":{"name":"46,XY porucha pohlavního vývoje způsobená deficitem testikulární 17,20-desmolázy","synonyms":["46,XY disorder of sex development due to testicular 17,20-desmolase deficiency"]},"uk":{"name":"46,XY порушення статевої диференціації, зумовлене дефіцитом 17,20-десмолази яєчок","synonyms":["46,XY порушення статевого розвитку внаслідок дефіциту 17,20-десмолази яєчок"]},"zh":{"name":"睾丸17,20-碳链裂解酶缺乏所致的46,XY 性发育障碍"},"tr":{"name":"46, testis 17,20-desmolaz eksikliğine bağlı cinsiyet gelişiminde XY bozukluğu"}},"xrefs":[{"source":"OMIM","code":"614279","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E29.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0013664","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0342473","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":443090,"name":"46,XY difference of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect","classifications":[147,156,185,193,233]}],"children":[],"genes":[{"symbol":"AKR1C2","name":"aldo-keto reductase family 1 member C2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"21802064[PMID]","hgnc":"385","ensembl":"ENSG00000151632","omim":"600450","loci":["10p15.1"]},{"symbol":"AKR1C4","name":"aldo-keto reductase family 1 member C4","gene_type":"gene with protein product","association":"Modifying germline mutation in","status":"Assessed","source":"21802064[PMID]","hgnc":"387","ensembl":"ENSG00000198610","omim":"600451","loci":["10p15.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"21802064[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_21802064[PMID]"}],"phenotypes":null}