{"orpha":568056,"name":"Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Disseminated warts-impaired cell-mediated immunity-primary lymphedema-anogenital dysplasia syndrome","WILD syndrome"],"definition":"A rare primary lymphedema characterized by extensive, multisegmental lymphedema, associated with persistent, widespread infections with various genital high- and low-risk human papillomaviruses, resulting in multifocal anogenital dysplasia. Laboratory examination shows abnormalities in lymphocyte subsets, in particular CD4+ T-cells. Epidermal nevi and capillary malformations have also been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-568056/","orphanet_url":"https://www.orpha.net/en/disease/detail/568056","names":{"fr":{"name":"Syndrome de verrues multiples-déficit immunitaire-lymphoedème-dysplasies anogénitales","synonyms":["Syndrome WILD","Syndrome de verrues multiples-immunodéficience-lymphoedème-dysplasies anogénitales"],"definition":"Lymphoedème primaire rare caractérisé par un lymphoedème multisegmentaire étendu, associé à des infections généralisées persistantes à divers papillomavirus humains à faible et haut risque cancérigène (cancer génital), entraînant une dysplasie anogénitale multifocale. Les examens biologiques mettent en évidence des anomalies des sous-populations de lymphocytes, notamment des lymphocytes T CD4+. Des cas de nævus épidermique et de malformations capillaires ont été rapportés."},"de":{"name":"Warzen-Immundefekt-Lymphödem-anogenitale Dysplasie-Syndrom","synonyms":["Disseminierte Warzen-gestörte zellvermittelte Immunität-primäres Lymphödem-anogenitale Dysplasie-Syndrom","WILD-Syndrom"],"definition":"Ein seltenes primäres Lymphödem, das durch ein ausgedehntes, multisegmentales Lymphödem gekennzeichnet ist, das mit persistierenden, weit verbreiteten Infektionen mit verschiedenen genitalen Hoch- und Niedrigrisiko-Papillomviren einhergeht und zu einer multifokalen anogenitalen Dysplasie führt. Die Laboruntersuchung zeigt Anomalien bei den Lymphozytenuntergruppen, insbesondere bei den CD4+ T-Zellen. Es wurde auch über epidermale Nävi und kapillare Fehlbildungen berichtet."},"es":{"name":"Síndrome de verrugas-inmunodeficiencia-linfedema-displasia anogenital","synonyms":["Síndrome WILD","Síndrome de verrugas diseminadas-alteración de la inmunidad celular-linfedema primario-displasia anogenital"],"definition":"Es un linfedema primario poco frecuente caracterizado por linfedema multisegmentado extenso, asociado a infecciones persistentes y generalizadas de varios papilovirus genitales de alto y bajo riesgo, resultando en displasia anogenital multifocal. Las pruebas de laboratorio muestran anomalías en subconjuntos de linfocitos, especialmente de las células-T CD4+. También se ha descrito nevos epidérmicos y malformaciones capilares."},"it":{"name":"Sindrome ondilomi-immunodeficienza-linfedema-displasia ano-genitale","synonyms":["Sindrome WILD","Sindrome da condilomi disseminati, compromissione dell'immunità cellulo-mediata, linfedema primitivo e displasia ano-genitale"],"definition":"Si tratta di un linfedema primitivo raro, caratterizzato da un linfedema esteso e multisegmentale, associato ad infezioni persistenti e diffuse da diversi papillomavirus umani genitali ad alto e basso rischio, che esitano nella displasia anogenitale multifocale. Gli esami di laboratorio evidenziano anomalie dei sottogruppi di linfociti, in particolare delle cellule T CD4+. I pazienti possono presentare anche nevi epidermici e malformazioni dei capillari."},"nl":{"name":"Wratten - immuundeficiëntie - lymfoedeem - anogenitale dysplasie-syndroom","synonyms":["Gedissemineerde wratten - verstoorde celgemedieerde immuniteit - primair lymfoedeem - anogenitale dysplasie-syndroom","WILD-syndroom"],"definition":"Een zeldzaam primair lymfoedeem, gekarakteriseerd door uitgebreid, multisegmentaal lymfoedeem, geassocieerd met persisterende, wijdverspreide infecties met verschillende genitale hoog- en laag-risico humane papillomavirussen, en resulterend in multifocale anogenitale dysplasie. Laboratoriumonderzoeken tonen afwijkingen van bepaalde lymfocyten, vooral CD4+ T-cellen. Epidermale naevi en capillaire malformaties werden ook reeds gerapporteerd."},"pt":{"name":"Síndrome de displasia anogenital-linfedema-imunodeficiência-Warts"},"pl":{"name":"Zespół brodawek, niedoboru odporności, obrzęku limfatycznego oraz dysplazji odbytu i narządów płciowych zewnętrznych","synonyms":["Zespół WILD"]},"cs":{"name":"Syndrom zahrnující bradavice, imunodeficienci, lymfedém a anogenitální dysplázii","synonyms":["Disseminated warts-impaired cell-mediated immunity-primary lymphedema-anogenital dysplasia syndrome","WILD syndrome"]},"uk":{"name":"Бородавки-імунодефіцит-лімфедема-аногенітальна дисплазія синдром","synonyms":["Синдром дисемінованих бородавок - порушення клітинного імунітету - первинної лімфедеми - аногенітальної дисплазії","Синдром WILD"],"definition":"A rare primary lymphedema characterized by extensive, multisegmental lymphedema, associated with persistent, widespread infections with various genital high- and low-risk human papillomaviruses, resulting in multifocal anogenital dysplasia. Laboratory examination shows abnormalities in lymphocyte subsets, in particular CD4+ T-cells. Epidermal nevi and capillary malformations have also been reported."},"zh":{"name":"疣-免疫缺陷-淋巴水肿-肛门生殖器发育不良综合征","synonyms":["Disseminated warts-impaired cell-mediated immunity-primary lymphedema-anogenital dysplasia syndrome","WILD syndrome"]},"tr":{"name":"Siğiller-immün yetmezlik-lenfödem-anogenital displazi sendromu","synonyms":["Yaygın siğiller-bozulmuş hücre aracılı bağışıklık-primer lenfödem-anogenital displazi sendromu","WILD sendromu"]}},"xrefs":[{"source":"ICD-10","code":"Q82.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0035473","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5568569","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":183494,"name":"Genetic immune deficiency with skin involvement","classifications":[156]},{"orpha":79391,"name":"Immune deficiency with skin involvement","classifications":[187]},{"orpha":140162,"name":"Inherited cancer-predisposing syndrome","classifications":[156,202]},{"orpha":331193,"name":"Other immunodeficiency syndromes due to defects in innate immunity","classifications":[156,195]},{"orpha":568044,"name":"Primary lymphedema with systemic or visceral involvement","classifications":[147,156,187,198]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"18347293[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_18347293[PMID]"}],"phenotypes":null}