{"orpha":664711,"name":"EBV-induced lymphoproliferative disease due to PRKCD deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["EBV-induced lymphoproliferative disease due to protein kinase C delta deficiency"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-664711/","orphanet_url":"https://www.orpha.net/en/disease/detail/664711","names":{"fr":{"name":"Maladie lymphoproliférative associée à l'EBV par déficit en PRKCD","synonyms":["Maladie lymphoproliférative associée au virus Epstein-Barr par déficit en protéine kinase C delta"]},"de":{"name":"EBV-induzierte lymphoproliferative Erkrankung durch PRKCD-Mangel","synonyms":["Epstein-Barr-Virus assoziierte lymphoproliferative Erkrankung aufgrund Proteinkinase C-delta-Defizienz","PRKCD-Defizienz"]},"es":{"name":"Enfermedad linfoproliferativa inducida por EBV por deficiencia de PRKCD","synonyms":["Enfermedad linfoproliferativa inducida por EBV por deficiencia de la proteína quinasa C delta"]},"it":{"name":"Malattia linfoproliferativa indotta da EBV da deficit PRKCD","synonyms":["Malattia linfoproliferativa indotta da EBV da deficit di protein-chinasi C delta"]},"nl":{"name":"EBV-geïnduceerde lymfoproliferatieve aandoening door PRKCD-deficiëntie","synonyms":["Epstein-Barrvirus-geïnduceerde lymfoproliferatieve aandoening door deficiëntie van proteïnekinase C delta"]},"pt":{"name":"Doença linfoproliferativa EBV-induzida por deficiência PRKCD","synonyms":["Doença linfoproliferativa EBV-induzida por deficiência da proteína cinase C delta"]},"pl":{"name":"Choroba limfoproliferacyjna wywołana EBV z powodu niedoboru PRKCD","synonyms":["EBV-induced lymphoproliferative disease due to protein kinase C delta deficiency"]},"cs":{"name":"EBV indukované lymfoproliferativní onemocnění způsobené deficitem PRKCD","synonyms":["EBV-induced lymphoproliferative disease due to protein kinase C delta deficiency"]},"uk":{"name":"EBV-індуковане лімфопроліферативне захворювання, зумовлене дефіцитом PRKCD","synonyms":["Лімфопроліферативне захворювання, спричинене EBV, внаслідок дефіциту протеїнкінази С дельта"]}},"xrefs":[{"source":"OMIM","code":"615559","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D82.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"8000024","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5925065","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]},{"orpha":717757,"name":"Rare immune disease with inflammatory bowel disease","classifications":[152,156,233]}],"children":[],"genes":[{"symbol":"PRKCD","name":"protein kinase C delta","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"23430113[PMID]","hgnc":"9399","ensembl":"ENSG00000163932","omim":"176977","loci":["3p21.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":null}