{"orpha":243,"name":"46,XX gonadal dysgenesis","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["46,XX complete gonadal dysgenesis","46,XX ovarian dysgenesis","46,XX pure gonadal dysgenesis","Hypergonadotropic ovarian dysgenesis","XX female gonadal dysgenesis","XX-GD"],"definition":"A rare disorder/difference of sex development characterized by a primary ovarian defect, either a failure of the gonads to develop or resistance to gonadotrophin stimulation which leads to premature ovarian failure (POF) in otherwise phenotypically female 46,XX individuals.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-243/","orphanet_url":"https://www.orpha.net/en/disease/detail/243","names":{"fr":{"name":"Dysgénésie gonadique 46,XX","synonyms":["Dysgénésie gonadique complète 46,XX","Dysgénésie gonadique de phénotype féminin","Dysgénésie gonadique pure 46,XX","Dysgénésie ovarienne 46,XX","Dysgénésie ovarienne hypergonadotrope","XX-GD"],"definition":"Anomalie/variations du développement sexuel caractérisée par une anomalie ovarienne primitive, soit un défaut de développement des ovaires, soit une résistance à la stimulation par les gonadotrophines, entraînant une insuffisance ovarienne prématurée (IOP) chez des personnes 46,XX de phénotype par ailleurs féminin."},"de":{"name":"Gonadendysgenesie, 46, XX-Typ","synonyms":["46,XX reine Gonadendysgenesie","46,XX-Gonadendysgenesie, vollständige","Ovarialdysgenesie, hypergonadotrope","XX Gonadendysgenesie, weibliche","XX-GD"],"definition":"Eine seltene Störung/Besonderheit der Geschlechtsentwicklung (DSD), die durch einen primären Ovarialdefekt gekennzeichnet ist, d. h. entweder eine fehlende Entwicklung der Keimdrüsen oder eine Resistenz gegen die Stimulation mit Gonadotropin, was bei ansonsten phänotypisch weiblichen 46,XX-Personen zu einem vorzeitigen Versagen der Eierstöcke (POF) führt."},"es":{"name":"Disgenesia gonadal 46,XX","synonyms":["Disgenesia gonadal completa 46,XX","Disgenesia gonadal femenina XX","Disgenesia gonadal pura 46,XX","Disgenesia ovárica 46,XX","Disgenesia ovárica hipergonadotrópica","XX-GD"],"definition":"Es una forma de desarrollo sexual diferente caracterizado por un defecto ovárico primario, ya sea por un fallo del desarrollo de las gónadas o por resistencia a la estimulación con gonadotrofinas que conduce a insuficiencia ovárica prematura (IOP) en individuos fenotípicamente femeninos 46,XX."},"it":{"name":"Disgenesia gonadica 46,XX","synonyms":["Disgenesia gonadica completa 46,XX","Disgenesia gonadica nelle femmine XX","Disgenesia gonadica pura 46,XX","Disgenesia ipergonadotropica delle ovaie","Disgenesia ovarica 46,XX","XX-GD"],"definition":"La disgenesia gonadica 46,XX (GD 46,XX) è un difetto ovarico primitivo con insufficienza ovarica precoce (POF; si veda questo termine), presente nelle femmine 46,XX, per il resto normali, caratterizzato dal mancato sviluppo delle gonadi e dalla resistenza alla stimolazione da parte delle gonadotropine."},"nl":{"name":"46,XX gonadale dysgenesie","synonyms":["46,XX complete gonadale dysgenesie","46,XX ovariële dysgenesie","46,XX zuivere gonadale dysgenesie","Hypergonadotrope ovariële dysgenesie","XX vrouwelijke gonadale dysgenesie","XX-GD"],"definition":"Een zeldzame aandoening/variatie van geslachtsontwikkeling, gekenmerkt door een primair defect van ovarium, hetzij gefaalde ontwikkeling van gonaden, hetzij resistentie tegen stimulatie met gonadotropine, dat leidt tot prematuur ovariumfalen (POF) bij voor het overige fenotypisch vrouwelijke 46,XX-individuen."},"pt":{"name":"Disgenesia gonadal 46,XX","synonyms":["Disgenésia gonadal completa 46,XX","Disgenésia gonadal feminina XX","Disgenésia gonadal pura 46,XX","Disgenésia ovárica 46,XX","Disgenésia ovárica hipergonadotrópica","XX-GD"],"definition":"Diferença do desenvolvimento sexual/anomalia rara no desenvolvimento sexual caracterizada por um defeito ovárico primário, através de uma falha no desenvolvimento das gónadas ou resistência à estimulação de gonadotrofinas que leva à falência ovariana prematura (FOP) em indivíduos 46,XX fenotipicamente femininos."},"pl":{"name":"Dysgenezja gonad 46,XX","synonyms":["46,XX całkowita dysgenezja gonad","46,XX czysta dysgenezja gonad","46,XX dysgenezja jajników","FSH-RO","Hipergonadotropowa dysgenezja jajników","Jajniki niewrażliwe na działanie hormonu folikulotropowego","XX dysgenezja gonad żeńskich","XX-GD"]},"cs":{"name":"46,XX gonadální dysgeneze","synonyms":["46,XX kompletní gonadální dysgeneze","46,XX ovariální dysgeneze","FSH-RO","FSH-rezistentní ovária","Hypergonadotropní ovariální dysgeneze","XX ženská gonadální dysgeneze","XX-GD","46,XX čistá forma gonadální dysgeneze"]},"uk":{"name":"46,XX дисгенезія гонад","synonyms":["46,XX повна дисгенезія гонад","46,XX дисгенезія яєчників","46,XX чиста дисгенезія гонад","Гіпергонадотропна дисгенезія яєчників","XX дисгенезія жіночих гонад","XX-GD"],"definition":"A rare disorder/difference of sex development characterized by a primary ovarian defect, either a failure of the gonads to develop or resistance to gonadotrophin stimulation which leads to premature ovarian failure (POF) in otherwise phenotypically female 46,XX individuals."},"zh":{"name":"46,XX性腺发育不全","synonyms":["卵泡刺激素不敏感性卵巢"]},"tr":{"name":"46, XX gonadal disgenezi","synonyms":["XX-GD","FSH-RO","46, XX yumurtalık disgenezi","XX kadın gonadal disgenezi","46, XX saf gonadal disgenezi","46, XX tam gonadal disgenezi","Hipergonadotropik over disgenezisi","Foliküler uyarıcı hormona dirençli overler"]}},"xrefs":[{"source":"OMIM","code":"233300","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"300510","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614324","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617442","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618078","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618117","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618723","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619665","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619834","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q99.1","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"LB45.1","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1742528605"},{"source":"MONDO","code":"0009299","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D023961","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0949595","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5671","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]},{"orpha":485382,"name":"Rare genetic premature ovarian failure","classifications":[156]},{"orpha":95710,"name":"Rare non-acquired premature ovarian failure","classifications":[193,205]}],"children":[],"genes":[{"symbol":"FSHR","name":"follicle stimulating hormone receptor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"7553856[PMID]_11889179[PMID]_12571157[PMID]","hgnc":"3969","ensembl":"ENSG00000170820","omim":"136435","loci":["2p16.3"]},{"symbol":"POLR3H","name":"RNA polymerase III subunit H","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"30830215[PMID]","hgnc":"30349","ensembl":"ENSG00000100413","omim":"619801","loci":["22q13.2"]},{"symbol":"SPIDR","name":"scaffold protein involved in DNA repair","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"27967308[PMID]","hgnc":"28971","ensembl":"ENSG00000164808","omim":"615384","loci":["8q11.21"]},{"symbol":"BMP15","name":"bone morphogenetic protein 15","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"15136966[PMID]","hgnc":"1068","ensembl":"ENSG00000130385","omim":"300247","loci":["Xp11.22"]},{"symbol":"BNC1","name":"basonuclin zinc finger protein 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"30010909[PMID]","hgnc":"1081","ensembl":"ENSG00000169594","omim":"601930","loci":["15q25.2"]},{"symbol":"FIGLA","name":"folliculogenesis specific bHLH transcription factor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"18499083[PMID]","hgnc":"24669","ensembl":"ENSG00000183733","omim":"608697","loci":["2p13.3"]},{"symbol":"MRPS22","name":"mitochondrial ribosomal protein S22","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"29566152[PMID]","hgnc":"14508","ensembl":"ENSG00000175110","omim":"605810","loci":["3q23"]},{"symbol":"MSH4","name":"mutS homolog 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"28541421[PMID]","hgnc":"7327","ensembl":"ENSG00000057468","omim":"602105","loci":["1p31.1"]},{"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":null,"hgnc":"7983","ensembl":"ENSG00000136931","omim":"184757","loci":["9q33.3"]},{"symbol":"NUP107","name":"nucleoporin 107","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"26485283[PMID]","hgnc":"29914","ensembl":"ENSG00000111581","omim":"607617","loci":["12q15"]},{"symbol":"PSMC3IP","name":"PSMC3 interacting protein","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21963259[PMID]","hgnc":"17928","ensembl":"ENSG00000131470","omim":"608665","loci":["17q21.2"]},{"symbol":"ZSWIM7","name":"zinc finger SWIM-type containing 7","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"34402903[PMID]","hgnc":"26993","ensembl":"ENSG00000214941","omim":"614535","loci":["17p12"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive","Not applicable","X-linked recessive"],"onset":["Adolescent","Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"8178824[PMID]_16877870[PMID]_ORPHANET"},{"type":"Prevalence at birth","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"8178824[PMID]_16877870[PMID]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"7553856[PMID]_9769327[PMID]_20087398[PMID]_11129329[PMID]_15136966[PMID]_21963259[PMID]_7553856[PMID]","terms":[{"hpo":"HP:0000133","label":"Gonadal dysgenesis","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0008209","label":"Premature ovarian insufficiency","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0009888","label":"Abnormality of secondary sexual hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000144","label":"Decreased fertility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008214","label":"Decreased serum estradiol","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000823","label":"Delayed puberty","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000837","label":"Increased circulating gonadotropin level","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000786","label":"Primary amenorrhea","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010311","label":"Aplasia/Hypoplasia of the breasts","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008684","label":"Aplasia/hypoplasia of the uterus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000938","label":"Osteopenia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005625","label":"Osteoporosis of vertebrae","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004349","label":"Reduced bone mineral density","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002225","label":"Sparse pubic hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010464","label":"Streak ovary","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001939","label":"Abnormality of metabolism/homeostasis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000869","label":"Secondary amenorrhea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001166","label":"Arachnodactyly","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002206","label":"Pulmonary fibrosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000062","label":"Ambiguous genitalia","frequency":"Excluded (0%)","criteria":null}]}}