{"orpha":664729,"name":"EBV-induced lymphoproliferative disease due to TET2 deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Epstein-Barr virus-induced lymphoproliferative disease due to tet methylcytosine dioxygenase 2 deficiency"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-664729/","orphanet_url":"https://www.orpha.net/en/disease/detail/664729","names":{"fr":{"name":"Maladie lymphoproliférative associée à l'EBV par déficit en TET2","synonyms":["Maladie lymphoproliférative associée au virus Epstein-Barr par déficit en protéine tet methylcytosine dioxygenase 2"]},"de":{"name":"EBV-induzierte lymphoproliferative Erkrankung durch TET2-Mangel","synonyms":["Epstein-Barr-Virus assoziierte lymphoproliferative Erkrankung aufgrund Tet-Methylcytosin-Dioxygenase 2-Defizienz"]},"es":{"name":"Enfermedad linfoproliferativa inducida por EBV por deficiencia de TET2","synonyms":["Enfermedad linfoproliferativa inducida por el virus de Epstein-Barr por deficiencia de tet metilcitosina dioxigenasa 2"]},"it":{"name":"Malattia linfoproliferativa indotta da EBV da deficit di TET2","synonyms":["Malattia linfoproliferativa indotta dal virus di Epstein-Barr da deficit di Tet metilcitosina diossigenasi 2"]},"nl":{"name":"EBV-geïnduceerde lymfoproliferatieve aandoening door TET2-deficiëntie","synonyms":["Epstein-Barrvirus-geïnduceerde lymfoproliferatieve aandoening door deficiëntie van tet-methylcytosine-dioxygenase 2"]},"pt":{"name":"Doença linfoproliferativa EBV-induzida por deficiência TET2","synonyms":["Doença linfoproliferativa Epstein-Barr virus-induzida por deficiência de tet metilcitosina dioxigenase 2"]},"pl":{"name":"Choroba limfoproliferacyjna wywołana EBV z powodu niedoboru TET2","synonyms":["Epstein-Barr virus-induced lymphoproliferative disease due to tet methylcytosine dioxygenase 2 deficiency"]},"cs":{"name":"EBV indukované lymfoproliferativní onemocnění způsobené deficitem TET2","synonyms":["Epstein-Barr virus-induced lymphoproliferative disease due to tet methylcytosine dioxygenase 2 deficiency"]},"uk":{"name":"EBV-індуковане лімфопроліферативне захворювання, зумовлене дефіцитом TET2","synonyms":["Індуковане вірусом Епштейна-Барр лімфопроліферативне захворювання, спричинене дефіцитом тет-метилцитозиндіоксигенази 2"]}},"xrefs":[{"source":"OMIM","code":"619126","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D82.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"30858","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5925062","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":"TET2","name":"tet methylcytosine dioxygenase 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"32518946[PMID]","hgnc":"25941","ensembl":"ENSG00000168769","omim":"612839","loci":["4q24"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"32518946[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"32518946[PMID]_ORPHANET"}],"phenotypes":null}