{"orpha":268114,"name":"RAS-associated autoimmune leukoproliferative disease","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["RALD"],"definition":"RAS-associated autoimmune leukoproliferative disease (RALD) is a rare genetic disorder characterized by monocytosis, autoimmune cytopenias, lymphoproliferation, hepatosplenomegaly, and hypergammaglobulinemia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-268114/","orphanet_url":"https://www.orpha.net/en/disease/detail/268114","names":{"fr":{"name":"Maladie leucoproliférative auto-immune associée à RAS","synonyms":["RALD"],"definition":"La maladie leucoproliférative auto-immune associée à RAS (RALD) est une maladie génétique rare caractérisée par une monocytose, une cytopénie auto-immune, une lymphoprolifération, une hépatosplénomégalie et une hypergammaglobulinémie."},"de":{"name":"RAS-assoziierte autoimmun-lymphoproliferative Krankheit","synonyms":["RALD"]},"es":{"name":"Enfermedad leucoproliferativa autoinmune asociada a RAS","synonyms":["RALD"],"definition":"La enfermedad leucoproliferativa autoinmune asociada a RAS (RALD, por sus siglas en inglés) es un trastorno genético poco frecuente caracterizado por monocitosis, citopenias autoinmunes, linfoproliferación, hepatoesplenomegalia e hipergammaglobulinemia."},"it":{"name":"Malattia autoimmune da proliferazione leucocitaria associata a RAS","synonyms":["ALPS, tipo 4","ALPS, tipo IV","RALD","Sindrome linfoproliferativa autoimmune, tipo 4","Sindrome linfoproliferativa autoimmune, tipo IV"]},"nl":{"name":"RAS-geassocieerde auto-immune leukoproliferatieve ziekte","synonyms":["RALD"],"definition":"RAS-geassocieerde auto-immune lymfoproliferatieve ziekte (RALD) is een zeldzame genetische aandoening die wordt gekarakteriseerd door monocytose, auto-immune cytopenieën, lymfoproliferatie, hepatosplenomegalie, en hypergammaglobulinemie."},"pt":{"name":"Doença linfoproliferativa autoimune associada a RAS","synonyms":["ALPS tipo 4","ALPS tipo IV","RALD","Síndrome linfoproliferativo autoimune tipo 4","Síndrome linfoproliferativo autoimune tipo IV"]},"pl":{"name":"Autoimmunologiczna choroba leukoproliferacyjna związana z RAS","synonyms":["ALPS typu 4","ALPS typu IV","Autoimmunologiczny zespół limfoproliferacyjny typu 4","Autoimmunologiczny zespół limfoproliferacyjny typu IV","RALD"]},"cs":{"name":"RAS-asociované autoimunitní leukoproliferativní onemocnění","synonyms":["ALPS typ 4","ALPS typ IV","Autoimunitní lymfoproliferativní syndrom, typ 4","Autoimunitní lymfoproliferativní syndrom, typ IV","RALD"]},"uk":{"name":"RAS-асоційоване аутоімунне лейкопроліферативне захворювання","synonyms":["RALD"],"definition":"RAS-associated autoimmune leukoproliferative disease (RALD) is a rare genetic disorder characterized by monocytosis, autoimmune cytopenias, lymphoproliferation, hepatosplenomegaly, and hypergammaglobulinemia."},"zh":{"name":"RAS相关自身免疫性白血病","synonyms":["RALD"],"definition":"RAS相关自身免疫性白质增生性疾病(RAD)是一种罕见的遗传性疾病，以单核细胞增多、自身免疫性细胞减少、淋巴组织增生、肝脾肿大和高丙种球蛋白血症为特征。"},"tr":{"name":"RAS -ilişkili otoimmün lökoproliferatif hastalık","synonyms":["RALD"]}},"xrefs":[{"source":"OMIM","code":"614470","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"621582","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D72.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0013767","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2674723","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":169355,"name":"Immunodeficiency syndrome with autoimmunity","classifications":[156,195,233]},{"orpha":664450,"name":"Inherited cancer-predisposing lymphoproliferative syndrome","classifications":[156,202]},{"orpha":171898,"name":"Lymphoid hemopathy","classifications":[194,202,233]}],"children":[],"genes":[{"symbol":"KRAS","name":"KRAS proto-oncogene, GTPase","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"21079152[PMID]","hgnc":"6407","ensembl":"ENSG00000133703","omim":"190070","loci":["12p12.1"]},{"symbol":"NRAS","name":"NRAS proto-oncogene, GTPase","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"17517660[PMID]_21079152[PMID]","hgnc":"7989","ensembl":"ENSG00000213281","omim":"164790","loci":["1p13.2"]}],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":20.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]"}],"phenotypes":null}