{"orpha":251510,"name":"46,XY partial gonadal dysgenesis","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["46,XY PGD","46,XY partial testicular dysgenesis"],"definition":"A rare disorder/difference of sex development (DSD) characterized by atypical gonadal development that results in genital ambiguity of variable degree ranging from almost female phenotype to almost male phenotype in a patient carrying a 46,XY karyotype.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-251510/","orphanet_url":"https://www.orpha.net/en/disease/detail/251510","names":{"fr":{"name":"Dysgénésie gonadique partielle 46,XY","synonyms":["Dysgénésie testiculaire partielle 46, XY"],"definition":"Anomalie/variation du développement sexuel rare (VDS) caractérisée par des anomalies du développement gonadique qui se traduit par une ambiguïté génitale de degré variable allant du phénotype presque féminin au phénotype presque masculin chez un caryotype masculin 46,XY."},"de":{"name":"46,XY-Gonadendysgenesie, partielle","synonyms":["46,XY PGD","46,XY partielle testikuläre Dysgenese"],"definition":"Eine seltene Störung/Besonderheit der Geschlechtsentwicklung (DSD), die durch eine atypische Entwicklung der Keimdrüsen gekennzeichnet ist und bei Patienten mit einem 46,XY-Karyotyp zu einer genitalen Uneindeutigkeit unterschiedlichen Ausmaßes führt, die von einem fast weiblichen Phänotyp bis zu einem fast männlichen Phänotyp reicht."},"es":{"name":"Disgenesia gonadal parcial 46,XY","synonyms":["46,XY PGD","Disgenesia testicular parcial 46,XY","PGD 46,XY"],"definition":"Es una anomalía del desarrollo sexual/ desarrollo sexual diferente (DSD) poco frecuente que se caracteriza por un desarrollo gonadal atípico que resulta en ambigüedad genital de grado variable que va desde un fenotipo casi femenino hasta un fenotipo prácticamente masculino en un paciente con un cariotipo 46,XY."},"it":{"name":"Disgenesia gonadica parziale 46,XY","synonyms":["Disgenesia testicolare parziale 46,XY","PGD 46,XY"],"definition":"La disgenesia gonadica parziale 46,XY (PGD 46,XY) è un disturbo dello sviluppo sessuale (DSD) da difetti dello sviluppo gonadico, caratterizzato da ambiguità sessuale variabile (da un fenotipo pressoché femminile a un fenotipo quasi del tutto maschile, in un portatore del cariotipo maschile 46,XY)."},"nl":{"name":"46,XY partiële gonadale dysgenesie","synonyms":["46,XY PGD","46,XY partiële testiculaire dysgenesie"],"definition":"Een zeldzame geslachtsontwikkelingsstoornis (DSD), gekenmerkt door atypische ontwikkeling van gonaden die resulteert in variabele gradaties van ambigue geslachtsorganen, gaande van nagenoeg volledig vrouwelijk fenotype tot bijna helemaal mannelijk fenotype bij een patiënt met karyotype 46,XY."},"pt":{"name":"Disgenesia gonadal parcial 46,XY","synonyms":["PGD 46,XY"],"definition":"Doença/anomalia rara do desenvolvimento sexual (DDS) caracterizada por desenvolvimento gonadal atípico que resulta em ambiguidade genital de grau variável, variando de fenótipo quase feminino a fenótipo quase masculino num doente com cariótipo 46,XY."},"pl":{"name":"Częściowa dysgenezja gonad z kariotypem 46,XY","synonyms":["46,XY PGD","Częściowa dysgenezja jąder z kariotypem 46,XY"]},"cs":{"name":"46,XY parciální gonadální dysgeneze","synonyms":["46,XY PGD","46,XY parciální testikulární dysgeneze"]},"uk":{"name":"46,XY часткова дисгенезія гонад","synonyms":["46,XY часткова дисгенезія яєчок","46,XY PGD"],"definition":"A rare disorder/difference of sex development (DSD) characterized by atypical gonadal development that results in genital ambiguity of variable degree ranging from almost female phenotype to almost male phenotype in a patient carrying a 46,XY karyotype."},"zh":{"name":"46XY部分性性腺发育不全","synonyms":["46,XY部分性睾丸发育不全"],"definition":"46，XY部分性腺发育不全(46，XY PGD)是一种伴性腺发育异常的性发育疾病，在携带男性46，XY核型的患者中，可导致不同程度的两性畸形，从完全女性表型到完全男性表型不等。"},"tr":{"name":"46, XY kısmi gonadal disgenezi","synonyms":["46, XY PGD","46, XY kısmi testis disgenezi"]}},"xrefs":[{"source":"OMIM","code":"154230","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"300018","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"612965","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613762","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615542","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616067","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616425","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q56.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2A.1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1658995864"},{"source":"MONDO","code":"0016674","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4510744","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":98313,"name":"Male infertility due to gonadal dysgenesis","classifications":[156,201]},{"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":"WT1","name":"WT1 transcription factor","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"25613702[PMID]","hgnc":"12796","ensembl":"ENSG00000184937","omim":"607102","loci":["11p13"]},{"symbol":"GATA4","name":"GATA binding protein 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"21220346[PMID]","hgnc":"4173","ensembl":"ENSG00000136574","omim":"600576","loci":["8p23.1"]},{"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":"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":"25580123[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":"17493621[PMID]","hgnc":"11311","ensembl":"ENSG00000184895","omim":"480000","loci":["Yp11.2"]},{"symbol":"WWOX","name":"WW domain containing oxidoreductase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22071891[PMID]","hgnc":"12799","ensembl":"ENSG00000186153","omim":"605131","loci":["16q23.1-q23.2"]},{"symbol":"ZFPM2","name":"zinc finger protein, FOG family member 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24549039[PMID]","hgnc":"16700","ensembl":"ENSG00000169946","omim":"603693","loci":["8q23"]},{"symbol":"NR0B1","name":"nuclear receptor subfamily 0 group B member 1","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"18384427[PMID]","hgnc":"7960","ensembl":"ENSG00000169297","omim":"300473","loci":["Xp21.2"]},{"symbol":"VAMP7","name":"vesicle associated membrane protein 7","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"24880616[PMID]","hgnc":"11486","ensembl":"ENSG00000124333","omim":"300053","loci":["Xq28 and Yq12"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive","X-linked recessive","Y-linked"],"onset":["Infancy","Neonatal"],"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":"2016-06-01","source":"25247647[PMID]_23044873[PMID]_20595937[PMID]_17973056[PMID]_16437021[PMID]_8240973[PMID]_9143505[PMID]_567843[PMID]_19246354[PMID]_10369247[PMID]_12786760[PMID]_21220346[PMID]_24549039[PMID]_22051515[PMID]","terms":[{"hpo":"HP:0000812","label":"Abnormal internal genitalia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012244","label":"Abnormal sex determination","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000058","label":"Abnormality of the labia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000045","label":"Abnormality of the scrotum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000142","label":"Abnormality of the vagina","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000062","label":"Ambiguous genitalia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000027","label":"Azoospermia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008665","label":"Clitoral hypertrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000868","label":"Decreased fertility in females","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008214","label":"Decreased serum estradiol","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0040171","label":"Decreased serum testosterone concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008734","label":"Decreased testicular size","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008232","label":"Elevated circulating follicle stimulating hormone level","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011969","label":"Elevated circulating luteinizing hormone level","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008730","label":"Female external genitalia in individual with 46,XY karyotype","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000133","label":"Gonadal dysgenesis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000771","label":"Gynecomastia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000815","label":"Hypergonadotropic hypogonadism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008736","label":"Hypoplasia of penis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008726","label":"Hypoplasia of the vagina","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000837","label":"Increased circulating gonadotropin level","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003251","label":"Male infertility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000054","label":"Micropenis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000939","label":"Osteoporosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000786","label":"Primary amenorrhea","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002215","label":"Sparse axillary hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002225","label":"Sparse pubic hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010464","label":"Streak ovary","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100779","label":"Urogenital sinus anomaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012870","label":"Vanishing testis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000823","label":"Delayed puberty","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000150","label":"Gonadoblastoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008187","label":"Absence of secondary sex characteristics","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000846","label":"Adrenal insufficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000149","label":"Ovarian gonadoblastoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008193","label":"Primary gonadal insufficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000030","label":"Testicular gonadoblastoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002667","label":"Nephroblastoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000100","label":"Nephrotic syndrome","frequency":"Very rare (<4-1%)","criteria":null}]}}