{"orpha":242,"name":"46,XY complete gonadal dysgenesis","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["46,XY CGD","46,XY pure gonadal dysgenesis","Swyer syndrome"],"definition":"A rare disorder/difference of sex development (DSD) associated with absence in gonadal development that results in the presence of female appearing external and internal genitalia in presence of a 46,XY karyotype.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-242/","orphanet_url":"https://www.orpha.net/en/disease/detail/242","names":{"fr":{"name":"Dysgénésie gonadique complète 46,XY","synonyms":["Dysgénésie gonadique pure 46,XY","Syndrome de Swyer"],"definition":"Anomalie/variation du développement sexuel rare (VDS) associée à une absence de développement gonadique, qui se traduit par la présence d'organes génitaux externes et internes féminins malgré un caryotype 46,XY."},"de":{"name":"46,XY-Gonadendysgenesie, vollständige","synonyms":["46,XY reine Gonadendysgenesie","46,XY-CGD","Swyer-Syndrom"],"definition":"Eine seltene Störung/Besonderheit der Geschlechtsentwicklung (DSD), die mit einer fehlenden Gonadenentwicklung einhergeht und bei einem Karyotyp von 46,XY zu weiblich erscheinenden äußeren und inneren Genitalien führt."},"es":{"name":"Disgenesia gonadal completa 46,XY","synonyms":["CGD 46,XY","Disgenesia gonadal pura 46,XY","Síndrome de Swyer"],"definition":"Es una anomalía del desarrollo sexual o desarrollo sexual diferente (DSD) poco frecuente asociado con ausencia de desarrollo gonadal que resulta en la presencia de genitales externos e internos aparentemente femeninos en personas con un cariotipo 46,XY."},"it":{"name":"Disgenesia gonadica completa 46,XY","synonyms":["CGD 46,XY","Disgenesia gonadica pura 46,XY","PGD 46,XY","Sindrome di Swyer"]},"nl":{"name":"46,XY totale gonadale dysgenesie","synonyms":["46,XY CGD","46,XY zuivere gonadale dysgenesie","Syndroom van Swyer"],"definition":"Een zeldzame geslachtsontwikkelingsstoornis (DSD), geassocieerd met afwezigheid van ontwikkeling van gonaden, met als gevolg aanwezigheid van vrouwelijk uitziende uitwendige en inwendige geslachtsorganen in aanwezigheid van 46,XY-karyotype."},"pt":{"name":"Disgenesia gonadal completa 46,XY","synonyms":["CGD 46,XY"],"definition":"Doença/anomalia rara do desenvolvimento sexual (DDS) associada à ausência no desenvolvimento gonadal que resulta na presença de genitália externa e interna de aparência feminina na presença de um cariótipo 46,XY."},"pl":{"name":"Całkowita dysgenezja gonad 46,XY","synonyms":["46,XY CGD","46,XY czysta dysgenezja gonad","Zespół Swyera"],"definition":"Rzadkie zaburzenie/zaburzenie różnicowania płci związane z brakiem rozwoju gonad, które skutkuje obecnością żeńskich zewnętrznych i wewnętrznych narządów płciowych w obecności kariotypu 46,XY."},"cs":{"name":"46,XY kompletní gonadální dysgeneze","synonyms":["46,XY CGD","46,XY syndrom čisté gonadální dysgeneze","Swyerův syndrom"]},"uk":{"name":"46,XY повна дисгенезія гонад","synonyms":["46,XY CGD","46,XY чиста дисгенезія гонад","Синдром Свейєра"],"definition":"A rare disorder/difference of sex development (DSD) associated with absence in gonadal development that results in the presence of female appearing external and internal genitalia in presence of a 46,XY karyotype."},"zh":{"name":"46，XY完全性腺发育不全","synonyms":["46,XY单纯性性腺发育不全"]},"tr":{"name":"46, XY tam gonadal disgenezi","synonyms":["46, XY CGD","Swyer sendromu","46, XY saf gonadal disgenezi"]}},"xrefs":[{"source":"OMIM","code":"154230","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"233420","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"300018","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"400044","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"612965","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613080","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613762","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616425","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q99.1","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"LD2A.1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2109073646"},{"source":"MONDO","code":"0010765","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2936694","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5068","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10084327","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":325118,"name":"46,XY 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]}],"children":[],"genes":[{"symbol":"WT1","name":"WT1 transcription factor","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"25613702[PMID]_21384108[PMID]_21314844[PMID]","hgnc":"12796","ensembl":"ENSG00000184937","omim":"607102","loci":["11p13"]},{"symbol":"CBX2","name":"chromobox 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"19361780[PMID]","hgnc":"1552","ensembl":"ENSG00000173894","omim":"602770","loci":["17q25.3"]},{"symbol":"SRY","name":"sex determining region Y","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"20301714[PMID]","hgnc":"11311","ensembl":"ENSG00000184895","omim":"480000","loci":["Yp11.2"]},{"symbol":"DHH","name":"desert hedgehog signaling molecule","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301714[PMID]","hgnc":"2865","ensembl":"ENSG00000139549","omim":"605423","loci":["12q13.12"]},{"symbol":"DHX37","name":"DEAH-box helicase 37","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"31337883[PMID]","hgnc":"17210","ensembl":"ENSG00000150990","omim":"617362","loci":["12q24.31"]},{"symbol":"MAP3K1","name":"mitogen-activated protein kinase kinase kinase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21129722[PMID]","hgnc":"6848","ensembl":"ENSG00000095015","omim":"600982","loci":["5q11.2"]},{"symbol":"NR0B1","name":"nuclear receptor subfamily 0 group B member 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"30879272[PMID]","hgnc":"7960","ensembl":"ENSG00000169297","omim":"300473","loci":["Xp21.2"]},{"symbol":"NR5A1","name":"nuclear receptor subfamily 5 group A member 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301714[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":"DMRT1","name":"doublesex and mab-3 related transcription factor 1","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"20685758[PMID]","hgnc":"2934","ensembl":"ENSG00000137090","omim":"602424","loci":["9p24.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive","X-linked recessive","Y-linked"],"onset":["Adolescent","Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"18410658[PMID]_27603905[PMID]_ORPHANET"},{"type":"Prevalence at birth","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"18410658[PMID]_27603905[PMID]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000044","label":"Hypogonadotropic hypogonadism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000037","label":"Male pseudohermaphroditism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000147","label":"Polycystic ovaries","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008715","label":"Testicular dysgenesis","frequency":"Very frequent (99-80%)","criteria":null}]}}