{"orpha":206484,"name":"Gonadoblastoma","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Gonadoblastoma is a rare benign neoplasm of mixed sex cord and germ cells, arising mostly in the dysgenic gonads of young women with a chromosome Y anomaly, presenting with abdominal enlargement, variable feminization or virilization or, in some cases, being asymptomatic. It is often associated with dysgerminoma.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-206484/","orphanet_url":"https://www.orpha.net/en/disease/detail/206484","names":{"fr":{"name":"Gonadoblastome","definition":"Le gonadoblastome est un néoplasme rare et bénin constitué de cellules mixtes des cordons sexuels et germinales, survenant le plus souvent dans les gonades dysgéniques de jeunes femmes possédant une anomalie du chromosome Y. Il se présente par un élargissement abdominal, une féminisation ou une virilisation variable, ou est asymptomatique dans certains cas. Il est souvent associé à un dysgerminome."},"de":{"name":"Gonadoblastom"},"es":{"name":"Gonadoblastoma","definition":"El gonadoblastoma de ovario es una neoplasia benigna mixta de cordones sexuales y células germinales poco frecuente que surge principalmente en las gónadas disgenéticas de mujeres jóvenes con una anomalía en el cromosoma Y. Se presenta con un aumento del perímetro abdominal, feminización o virilización variable o, en algunos casos, siendo asintomático. Se asocia a menudo con un disgermimoma (consulte este término)."},"it":{"name":"Gonadoblastoma ovarico","definition":"Il gonadoblastoma dell'ovaio è una neoplasia mista benigna rara delle cellule germinali e dei tubuli seminiferi primitivi, che origina, per lo più, nelle gonadi disgenetiche delle donne giovani che presentano anomalie del cromosoma Y, manifestando distensione addominale, femminilizzazione o virilizzazione variabile. In alcuni casi le pazienti sono asintomatiche. Si associa spesso a disgerminoma (si veda questo termine)."},"nl":{"name":"Gonadoblastoom","definition":"Ovariumgonadoblastoom is een zeldzaam goedaardig neoplasma van gemengde 'sex cord' en kiemcellen dat meestal ontstaat in de dysgenetische gonaden van jonge vrouwen met een chromosoom Y-afwijking en uit zich door uitzetting van de buik, variabele feminisatie of virilisatie, of, in sommige gevallen, zonder symptomen. De ziekte is vaak geassocieerd met dysgerminoom (zie deze term)."},"pt":{"name":"Gonadoblastoma"},"pl":{"name":"Gonadoblastoma"},"cs":{"name":"Ovariální gonadoblastom"},"uk":{"name":"Гонадобластома","definition":"Gonadoblastoma is a rare benign neoplasm of mixed sex cord and germ cells, arising mostly in the dysgenic gonads of young women with a chromosome Y anomaly, presenting with abdominal enlargement, variable feminization or virilization or, in some cases, being asymptomatic. It is often associated with dysgerminoma."},"zh":{"name":"性腺母细胞瘤","definition":"性腺母细胞瘤是一种罕见的性索细胞和生殖细胞混合构成的良性肿瘤，主要发生在Y染色体异常的年轻女性的性腺中，表现为腹部膨隆、男性患者女性化或女性患者男性化，有时无症状。该病常与无性细胞瘤有关。"},"tr":{"name":"Gonadoblastom"}},"xrefs":[{"source":"OMIM","code":"424500","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D39.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0002697","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D018238","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0206661","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":398940,"name":"Malignant non-epithelial tumor of ovary","classifications":[202,205]},{"orpha":363472,"name":"Tumor of testis and paratestis","classifications":[185,202]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Adolescent"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-01-20","source":"10999808[PMID]_24826988[PMID]_23933507[PMID]_25535833[PMID]_17504899[PMID]_15973330[PMID]_14149008[PMID]_16735607[PMID]_1326038[PMID]_3548944[PMID]_4193741[PMID]","terms":[{"hpo":"HP:0000137","label":"Abnormality of the ovary","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:0000149","label":"Ovarian gonadoblastoma","frequency":"Very frequent (99-80%)","criteria":"Pathognomonic sign"},{"hpo":"HP:0100621","label":"Dysgerminoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008703","label":"Gonadal calcification","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008723","label":"Gonadal dysgenesis with female appearance, male","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003270","label":"Abdominal distention","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000062","label":"Ambiguous genitalia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001007","label":"Hirsutism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030088","label":"Increased serum testosterone level","frequency":"Occasional (29-5%)","criteria":null}]}}