{"orpha":695807,"name":"Immunodeficiency-systemic inflammation-lymphoma predisposition syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Immunodeficiency-multi-organ inflammation-lymphoma predisposition syndrome"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-695807/","orphanet_url":"https://www.orpha.net/en/disease/detail/695807","names":{"fr":{"name":"Syndrome d'immunodéficience-inflammation systémique-prédisposition au lymphome","synonyms":["Syndrome d'immunodéficience-inflammation multi-organique-prédisposition au lymphome"]},"de":{"name":"Syndromaler Immundefekt mit systemischer Inflammation und Lymphom-Prädisposition","synonyms":["SYK-assoziierte Immunregulationsstörung mit systemischer Inflammation"]},"es":{"name":"Síndrome de predisposición a inmunodeficiencia-inflamación sistémica-linfoma","synonyms":["Síndrome de predisposición a inmunodeficiencia-inflamación multiorgánica-linfoma"]},"it":{"name":"Sindrome immunodeficienza-infiammazione sistemica- predisposizione al linfoma","synonyms":["Sindrome immunodeficienza-infiammazione multiorgano-predisposizione al linfoma"]},"nl":{"name":"Immuundeficiëntie - systemische inflammatie - lymfoom-predispositiesyndroom","synonyms":["Immuundeficiëntie - multiorgaan-inflammatie - lymfoom-predispositiesyndroom"]},"pt":{"name":"Immunodeficiency-systemic inflammation-lymphoma predisposition syndrome"},"pl":{"name":"Immunodeficiency-systemic inflammation-lymphoma predisposition syndrome","synonyms":["Immunodeficiency-multi-organ inflammation-lymphoma predisposition syndrome"]},"cs":{"name":"Immunodeficiency-systemic inflammation-lymphoma predisposition syndrome","synonyms":["Immunodeficiency-multi-organ inflammation-lymphoma predisposition syndrome"]}},"xrefs":[{"source":"OMIM","code":"619381","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":290839,"name":"Autoinflammatory syndrome with immune deficiency","classifications":[156,195]},{"orpha":664450,"name":"Inherited cancer-predisposing lymphoproliferative syndrome","classifications":[156,202]},{"orpha":324933,"name":"Mixed autoinflammatory and autoimmune syndrome","classifications":[156,196,231]},{"orpha":717757,"name":"Rare immune disease with inflammatory bowel disease","classifications":[152,156,233]}],"children":[],"genes":[{"symbol":"SYK","name":"spleen associated tyrosine kinase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"33782605[PMID]","hgnc":"11491","ensembl":"ENSG00000165025","omim":"600085","loci":["9q22.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":6.0,"area":"Worldwide","status":"Validated","source":"33782605[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"33782605[PMID]_ORPHANET"}],"phenotypes":null}