{"orpha":664726,"name":"EBV-induced lymphoproliferative disease due to CD137 deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Epstein-Barr virus-induced lymphoproliferative disease due to Cell differentiation 137 protein deficiency"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-664726/","orphanet_url":"https://www.orpha.net/en/disease/detail/664726","names":{"fr":{"name":"Maladie lymphoproliférative associée à l'EBV par déficit en CD137","synonyms":["Maladie lymphoproliférative associée au virus Epstein-Barr par déficit en protéine Cell differentiation 137"]},"de":{"name":"EBV-induzierte lymphoproliferative Erkrankung durch CD137-Mangel","synonyms":["Epstein-Barr-Virus assoziierte lymphoproliferative Erkrankung aufgrund CD137-Defizienz"]},"es":{"name":"Enfermedad linfoproliferativa inducida por EBV por deficiencia de CD137","synonyms":["Enfermedad linfoproliferativa inducida por el virus de Epstein-Barr por deficiencia de la proteína de diferenciación celular 137"]},"it":{"name":"Malattia linfoproliferativa indotta da EBV da deficit di CD137","synonyms":["Malattia linfoproliferativa indotta dal virus di Epstein-Barr da deficit della proteina 137 di differenziazione cellulare"]},"nl":{"name":"EBV-geïnduceerde lymfoproliferatieve aandoening door CD137-deficiëntie","synonyms":["Epstein-Barrvirus-geïnduceerde lymfoproliferatieve aandoening door deficiëntie van celdifferentiatie 137-proteïne"]},"pt":{"name":"Doença linfoproliferativa EBV-induzida por deficiência de CD137","synonyms":["Doença linfoproliferativa Epstein-Barr virus-induzida por deficiência da proteína 137 da diferenciação celular"]},"pl":{"name":"Choroba limfoproliferacyjna wywołana EBV spowodowana niedoborem CD137","synonyms":["Epstein-Barr virus-induced lymphoproliferative disease due to Cell differentiation 137 protein deficiency"]},"cs":{"name":"EBV indukované lymfoproliferativní onemocnění způsobené deficitem CD137","synonyms":["Epstein-Barr virus-induced lymphoproliferative disease due to Cell differentiation 137 protein deficiency"]},"uk":{"name":"EBV-індуковане лімфопроліферативне захворювання, зумовлене дефіцитом CD137","synonyms":["Індуковане вірусом Епштейна-Барр лімфопроліферативне захворювання, спричинене дефіцитом білка клітинної диференціації 137"]}},"xrefs":[{"source":"OMIM","code":"620282","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D82.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"859526","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5925064","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":664456,"name":"Immune dysregulation disease with immunodeficiency associated with EBV susceptibility","classifications":[156,195]},{"orpha":664450,"name":"Inherited cancer-predisposing lymphoproliferative syndrome","classifications":[156,202]}],"children":[],"genes":[{"symbol":"TNFRSF9","name":"TNF receptor superfamily member 9","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"30872117[PMID]","hgnc":"11924","ensembl":"ENSG00000049249","omim":"602250","loci":["1p36.23"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"30872117[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"30872117[PMID]_ORPHANET"}],"phenotypes":null}