{"orpha":457083,"name":"Isolated splenogonadal fusion","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["SGF"],"definition":"A rare, non-syndromic visceral malformation characterized by an abnormal, continuous or discontinuous attachment of the spleen to the gonad, epididymis or vas. Continuous type has a direct connection between spleen and the gonad, whereas discontinuous type indicates gonadal tissue fused with an accessory spleen or ectopic spleen tissue without connection to the principal spleen. Males typically present with a scrotal mass or as an incidental finding during the management of cryptorchidism, testicular tumors or inguinal hernia. In females this is usually an incidental finding during laparotomy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-457083/","orphanet_url":"https://www.orpha.net/en/disease/detail/457083","names":{"fr":{"name":"Fusion splénogonadique isolée","synonyms":["SGF"],"definition":"Malformation viscérale non syndromique rare caractérisée par une adhérence anormale, continue ou discontinue de la rate à la gonade, à l'épididyme ou au canal déférent. La malformation de type continu est caractérisée par une connexion directe entre la rate et la gonade, alors qu'en cas de type discontinu, on observe une fusion du tissu gonadique et de la rate accessoire ou un tissu de la rate ectopique dépourvu de connexion avec la rate principale. Chez l'homme, la malformation se manifeste généralement par une masse scrotale ou est découverte de manière fortuite lors de la prise en charge d'une cryptorchidie, de tumeurs testiculaires ou d'une hernie inguinale. Chez la femme, elle est généralement découverte de manière fortuite lors d'une laparotomie."},"de":{"name":"Splenogonadale Fusion, isolierte","synonyms":["SGF"],"definition":"Eine seltene, nicht-syndromale viszerale Fehlbildung, die durch eine abnorme, kontinuierliche oder diskontinuierliche Anheftung der Milz an die Gonade, den Nebenhoden oder des Vas deferens gekennzeichnet ist. Beim kontinuierlichen Typ besteht eine direkte Verbindung zwischen Milz und Gonade, während beim diskontinuierlichen Typ Gonadengewebe mit einer akzessorischen Milz oder ektopem Milzgewebe ohne Verbindung zur Hauptmilz verschmolzen ist. Männer präsentieren sich typischerweise mit einer skrotalen Masse oder als Zufallsbefund bei der Behandlung von Kryptorchismus, Hodentumoren oder Leistenbrüchen. Bei Frauen ist dies meist ein Zufallsbefund bei der Laparotomie."},"es":{"name":"Fusión esplenogonadal aislada","synonyms":["SGF"],"definition":"Es una malformación visceral no sindrómica poco frecuente caracterizada por una fijación anómala, continua o discontinua, del bazo a la gónada, al epidídimo o al vaso deferente . El tipo continuo consiste en una conexión directa entre el bazo y la gónada, mientras que el tipo discontinuo indica que tejido gonadal está fusionado a un bazo accesorio o al tejido esplénico ectópico sin conexión con el bazo principal. Típicamente, los varones se presentan con una masa escrotal, pudiendo ésta ser un hallazgo incidental durante el manejo de la criptorquidia, tumores testiculares o una hernia inguinal. En mujeres suele ser un hallazgo incidental durante una laparoscopia."},"it":{"name":"Fusione splenogonadica isolata","definition":"Si tratta di una malformazione viscerale rara non sindromica, caratterizzata da un'aderenza anomala, continua o discontinua, della milza alla gonade, all'epididimo o a un vaso. Quando l'aderenza è continua, si osserva una connessione diretta tra la milza e la gonade, mentre se è discontinua il tessuto gonadico è fuso con una milza accessoria o con un tessuto splenico ectopico, senza connessione con la milza principale. Di solito i maschi presentano una massa scrotale, che può essere individuata casualmente durante la presa in carico del criptorchidismo, di tumori testicolari o di un'ernia inguinale. In genere, nelle femmine la massa viene individuata casualmente nel corso di una laparotomia."},"nl":{"name":"Geïsoleerde splenogonadale fusie","synonyms":["SGF"],"definition":"Een zeldzame, niet-syndromale viscerale malformatie gekarakteriseerd door een abnormale, continue of discontinue aanhechting van de milt aan de gonade, epididymis (bijbal) of zaadleider. Het continue type heeft een directe verbinding tussen milt en gonade, terwijl het discontinue type fusie van gonadaal weefsel met een accessoire milt of ectopisch miltweefsel vertoont, zonder verbinding met de eigenlijke milt. Mannen presenteren zich doorgaans met een scrotale massa of het wordt toevallig ontdekt tijdens behandeling van cryptorchisme, testiculaire tumoren of liesbreuk. Bij vrouwen wordt het meestal toevallig ontdekt tijdens een laparotomie."},"pt":{"name":"Fusão esplenogonadal isolada"},"pl":{"name":"Izolowane połączenie śledzionowo-mosznowe","synonyms":["SGF"]},"cs":{"name":"Izolovaná splenogonadální fúze","synonyms":["SGF"]},"uk":{"name":"Ізольоване спленогонадальне зєднання","synonyms":["SGF"],"definition":"A rare, non-syndromic visceral malformation characterized by an abnormal, continuous or discontinuous attachment of the spleen to the gonad, epididymis or vas. Continuous type has a direct connection between spleen and the gonad, whereas discontinuous type indicates gonadal tissue fused with an accessory spleen or ectopic spleen tissue without connection to the principal spleen. Males typically present with a scrotal mass or as an incidental finding during the management of cryptorchidism, testicular tumors or inguinal hernia. In females this is usually an incidental finding during laparotomy."},"zh":{"name":"单发脾生殖腺融合","synonyms":["SGF"],"definition":"一种罕见的、非综合征性的内脏畸形，其特征是脾脏与性腺、附睾或输精管的异常、连续或不连续的粘连。连续型表示脾脏与性腺直接粘连，而不连续型则表示性腺组织与附属脾脏融合或异位脾脏组织与主脾脏不粘连。男性通常表现为阴囊肿块或在处理隐睾、睾丸肿瘤或腹股沟疝气时偶然发现。在女性中，通常是在腹腔手术中偶然发现。"},"tr":{"name":"İzole splenogonadal füzyon","synonyms":["SGF"]}},"xrefs":[{"source":"ICD-10","code":"Q89.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018703","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0266636","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":108971,"name":"Non-syndromic visceral malformation of the liver, biliary tract, pancreas or spleen","classifications":[147,182,233]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["No data available"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":145.0,"area":"Worldwide","status":"Validated","source":"15349548[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_15349548[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-05-26","source":"26952691[PMID]_18971159[PMID]_32063996[PMID]","terms":[{"hpo":"HP:0000045","label":"Abnormality of the scrotum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0032404","label":"Testicular mass","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012741","label":"Unilateral cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009714","label":"Abnormality of the epididymis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008689","label":"Bilateral cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010452","label":"Ectopia of the spleen","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000034","label":"Hydrocele testis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001748","label":"Polysplenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000036","label":"Abnormality of the penis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0045040","label":"Abnormal lactate dehydrogenase activity","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0006254","label":"Elevated alpha-fetoprotein","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0000837","label":"Increased circulating gonadotropin level","frequency":"Excluded (0%)","criteria":null}]}}