{"orpha":1772,"name":"45,X/46,XY mixed gonadal dysgenesis","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["45,X/46,XY MGD","45,X0/46,XY MGD","45,X0/46,XY mixed gonadal dysgenesis"],"definition":"A rare disorder/difference of sex development (DSD) associated with a numerical sex chromosome abnormality resulting from Y-chromosome mosaicism and associated to abnormal gonadal development and features of Turner-Syndrome.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1772/","orphanet_url":"https://www.orpha.net/en/disease/detail/1772","names":{"fr":{"name":"Dysgénésie gonadique mixte 45,X/46,XY","synonyms":["Dysgénésie gonadique mixte 45,X0/46,XY"],"definition":"Anomalie/variation du développement sexuel rare (VDS) associée à une anomalie numérique des chromosomes sexuels résultant d'un mosaïcisme du chromosome Y et associée à des anomalies du développement gonadique et à des signes du syndrome de Turner."},"de":{"name":"45,X/46,XY-Gonadendysgenesie, gemischte","synonyms":["45,X/46,XY MGD","45,X0/46,XY MGD","Gonadendysgenesie, gemischte, 45,X0/46,XY"],"definition":"Eine seltene Störung/Besonderheit der Geschlechtsentwicklung (DSD), die mit einer numerischen Geschlechtschromosomenanomalie einhergeht, die aus einem Y-Chromosomen- Mosaik resultiert und mit einer abnormen Gonadenentwicklung und Merkmalen des Turner-Syndroms verbunden ist."},"es":{"name":"Disgenesia gonadal mixta 45,X/46,XY","synonyms":["Disgenesia gonadal mixta 45,X0/46,XY","MGD 45,X/46,XY","MGD 45,X0/46,XY"],"definition":"Es una anomalía del desarrollo sexual o desarrollo sexual diferente (DSD) poco frecuente asociada a una anomalía numérica de los cromosomas sexuales resultante del mosaicismo del cromosoma Y y asociada a un desarrollo gonadal anómalo y a características del síndrome de Turner."},"it":{"name":"Disgenesia gonadica mista 45,X/46,XY","synonyms":["Disgenesia gonadica mista 45,X0/46,XY","MGD 45,X/46,XY","MGD 45,X0/46,XY"],"definition":"La disgenesia gonadica mista 45,X/46,XY (MGD 45,X/46,XY) è un disturbo dello sviluppo sessuale (DSD) associato a un'anomalia numerica dei cromosomi sessuali, dovuta a mosaicismo del cromosoma Y, che causa difetti dello sviluppo gonadico."},"nl":{"name":"45,X/46,XY gemengde gonadale dysgenesie","synonyms":["45,X/46,XY MGD","45,X0/46,XY MGD","45,X0/46,XY gemengde gonadale dysgenesie"],"definition":"Een zeldzame geslachtsontwikkelingsstoornis (DSD), geassocieerd met een afwijkend aantal geslachtschromosomen als gevolg van mozaïcisme van Y-chromosoom, en geassocieerd met abnormale ontwikkeling van gonaden en kenmerken van syndroom van Turner."},"pt":{"name":"Disgenesia gonadal mista 45,X/46,XY","definition":"Doença/anomalia rara do desenvolvimento sexual (DDS) associada a uma anormalia numérica dos cromossomas sexuais resultante do mosaicismo do cromossoma Y e associada ao desenvolvimento gonadal anómalo e características da síndrome Turner."},"pl":{"name":"Mieszana dysgenezja gonad z kariotypem 45,X/46,XY","synonyms":["45,X/46,XY MDG","45,X0/46,XY MDG","45,X0/46,XY mieszana dysgenezja gonad"],"definition":"Rzadka choroba / zaburzenie różnicowania płci (DSD) związana z nieprawidłową liczbą chromosomów płciowych, wynikającą z mozaikowatości chromosomu Y, oraz nieprawidłowym rozwojem gonad i cechami zespołu Turnera."},"cs":{"name":"45,X/46,XY smíšená gonadální dysgeneze","synonyms":["45,X/46,XY MGD","45,X0/46,XY MGD","45,X0/46,XY smíšená gonadální dysgeneze"]},"uk":{"name":"45,X/46,XY змішана дисгенезія гонад","synonyms":["45,X/46,XY MGD","45,X0/46,XY МГД","45,X0/46,XY змішаний дисгенезій гонад"],"definition":"A rare disorder/difference of sex development (DSD) associated with a numerical sex chromosome abnormality resulting from Y-chromosome mosaicism and associated to abnormal gonadal development and features of Turner-Syndrome."},"zh":{"name":"45,X/46,XY混合性腺发育不全","synonyms":["45,X/46,XY混合性腺发育不全"]},"tr":{"name":"45,X/46,XY karma gonadal disgenezi","synonyms":["45, X/46, XY MGD","45, X0/46, XY MGD","45, X0/46, XY karma gonadal disgenezi"]}},"xrefs":[{"source":"ICD-10","code":"Q98.7","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2A.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"451241641"},{"source":"MONDO","code":"0015779","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D006060","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0018055","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98074,"name":"Gonadal dysgenesis of gynecological interest","classifications":[156,205]},{"orpha":98313,"name":"Male infertility due to gonadal dysgenesis","classifications":[156,201]},{"orpha":325546,"name":"Sex chromosome difference of sex development","classifications":[147,156,185,193]},{"orpha":263746,"name":"Y chromosome number anomaly syndrome","classifications":[147,156]}],"children":[],"genes":[{"symbol":"SRY","name":"sex determining region Y","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"20699606[PMID]","hgnc":"11311","ensembl":"ENSG00000184895","omim":"480000","loci":["Yp11.2"]}],"genes_via_subtypes":[],"inheritance":["Not applicable","Unknown"],"onset":["All ages"],"prevalence":[{"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":"2015-09-28","source":"25860218[PMID]_22605431[PMID]_10429013[PMID]_9135271[PMID]_23457457[PMID]_23422775[PMID]_10786990[PMID]_3631129[PMID]_3595646[PMID]_25351753[PMID]_21508138[PMID]_16735607[PMID]_22605431[PMID]_2621740[PMID]_25022812[PMID]","terms":[{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008968","label":"Muscle hypertrophy of the lower extremities","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012741","label":"Unilateral cryptorchidism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000812","label":"Abnormal internal genitalia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000062","label":"Ambiguous genitalia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000061","label":"Ambiguous genitalia, female","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000033","label":"Ambiguous genitalia, male","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000027","label":"Azoospermia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008689","label":"Bilateral cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000837","label":"Increased circulating gonadotropin level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003251","label":"Male infertility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000054","label":"Micropenis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000808","label":"Penoscrotal hypospadias","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100779","label":"Urogenital sinus anomaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000077","label":"Abnormality of the kidney","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000045","label":"Abnormality of the scrotum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001647","label":"Bicuspid aortic valve","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000048","label":"Bifid scrotum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030079","label":"Cervix cancer","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000041","label":"Chordee","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001680","label":"Coarctation of aorta","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002967","label":"Cubitus valgus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040171","label":"Decreased serum testosterone concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000823","label":"Delayed puberty","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001087","label":"Developmental glaucoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002442","label":"Dyscalculia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000039","label":"Epispadias","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000150","label":"Gonadoblastoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000771","label":"Gynecomastia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001822","label":"Hallux valgus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000085","label":"Horseshoe kidney","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000821","label":"Hypothyroidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002162","label":"Low posterior hairline","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002164","label":"Nail dysplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001513","label":"Obesity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012887","label":"Ovarian serous cystadenoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012861","label":"Ovotestis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001657","label":"Prolonged QT interval","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000403","label":"Recurrent otitis media","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010044","label":"Short 4th metacarpal","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010743","label":"Short metatarsal","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010464","label":"Streak ovary","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001649","label":"Tachycardia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000465","label":"Webbed neck","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006610","label":"Wide intermamillary distance","frequency":"Occasional (29-5%)","criteria":null}]}}