{"orpha":664699,"name":"EBV-induced lymphoproliferative disease due to RASGRP1 deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Epstein-Barr virus-induced lymphoproliferative disease due to Ras guanyl nucleotide-releasing protein 1 deficiency"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-664699/","orphanet_url":"https://www.orpha.net/en/disease/detail/664699","names":{"fr":{"name":"Maladie lymphoproliférative associée à l'EBV par déficit en RASGRP1","synonyms":["Maladie lymphoproliférative associée au virus Epstein-Barr par déficit en protéine Ras guanyl nucleotide-releasing protein 1"]},"de":{"name":"EBV-induzierte lymphoproliferative Erkrankung durch RASGPR1-Mangel","synonyms":["Epstein-Barr-Virus assoziierte lymphoproliferative Erkrankung aufgrund RASGPR1-Defizienz"]},"es":{"name":"Enfermedad linfoproliferativa inducida por EBV por deficiencia de RASGPR1","synonyms":["Enfermedad linfoproliferativa inducida por el virus de Epstein-Barr por deficiencia del factor intercambiador de nucleótidos de Ras-guanina"]},"it":{"name":"Malattia linfoproliferativa indotta da EBV da deficit di RASGPR1","synonyms":["Malattia linfoproliferativa indotta dal virus di Epstein-Barr da deficit della proteina Ras 1 di rilascio del nucleotide guanilico"]},"nl":{"name":"EBV-geïnduceerde lymfoproliferatieve aandoening door RASGPR1-deficiëntie","synonyms":["Epstein-Barrvirus-geïnduceerde lymfoproliferatieve aandoening door deficiëntie van Ras-guanylnucleotide-releasing proteïne 1"]},"pt":{"name":"Doença linfoproliferativa EBV-induzida por deficiência RASGPR1","synonyms":["Doença linfoproliferativa Epstein-Barr virus-induzida por deficiência de proteína liberadora 1 de nucleotídeo Ras-guanil"]},"pl":{"name":"Choroba limfoproliferacyjna wywołana EBV z powodu niedoboru RASGPR1","synonyms":["Epstein-Barr virus-induced lymphoproliferative disease due to Ras guanyl nucleotide-releasing protein 1 deficiency"]},"cs":{"name":"EBV indukované lymfoproliferativní onemocnění způsobené deficitem RASGRP1","synonyms":["Epstein-Barr virus-induced lymphoproliferative disease due to Ras guanyl nucleotide-releasing protein 1 deficiency"]},"uk":{"name":"EBV-індуковане лімфопроліферативне захворювання, зумовлене дефіцитом RASGRP1","synonyms":["Індуковане вірусом Епштейна-Барр лімфопроліферативне захворювання, спричинене дефіцитом Ras гуанілнуклеотид-рилізинг протеїну 1"]}},"xrefs":[{"source":"ICD-10","code":"D82.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"UMLS","code":"C5925066","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":"RASGRP1","name":"RAS guanyl releasing protein 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"28822832[PMID]_29282224[PMID]","hgnc":"9878","ensembl":"ENSG00000172575","omim":"603962","loci":["15q14"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":null}