{"orpha":696874,"name":"NFKB1-related immune dysregulation","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Nuclear factor kappa B subunit 1-related immune dysregulation"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-696874/","orphanet_url":"https://www.orpha.net/en/disease/detail/696874","names":{"fr":{"name":"Dérégulation immunitaire associée à NFKB1","synonyms":["Dérèglement immunitaire associé à la protéine nuclear factor kappa B subunit 1"]},"de":{"name":"Immundysregulation, NFKB1-assoziierte"},"es":{"name":"Desregulación inmunológica asociada a NFKB1","synonyms":["Desregulación inmunológica asociada a la subunidad 1 del factor nuclear kappa B"]},"it":{"name":"Disregolazione immunitaria correlata a NFKB1","synonyms":["Disregolazione immunitaria correlata alla subunità 1 del fattore nucleare kappa B"]},"nl":{"name":"NFKB1-gerelateerde immuundisregulatie","synonyms":["Immuundisregulatie gerelateerd aan nucleaire factor kappa B subeenheid 1"]},"pt":{"name":"NKFB1-related immune dysregulation"},"pl":{"name":"NFKB1-related immune dysregulation","synonyms":["Nuclear factor kappa B subunit 1-related immune dysregulation"]},"cs":{"name":"NFKB1-related immune dysregulation","synonyms":["Nuclear factor kappa B subunit 1-related immune dysregulation"]}},"xrefs":[{"source":"OMIM","code":"616576","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D81.8","qualifier":"NTBT","icd_relation":"attributed","validated":false},{"source":"ICD-11","code":"4A01.2Y","qualifier":"NTBT","icd_relation":"attributed","validated":false}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":696870,"name":"Common variable immunodeficiency phenotype due to germinal monogenic mutation","classifications":[156,195]},{"orpha":169361,"name":"Immune dysregulation disease with immunodeficiency","classifications":[156,195]},{"orpha":664450,"name":"Inherited cancer-predisposing lymphoproliferative syndrome","classifications":[156,202]}],"children":[],"genes":[{"symbol":"NFKB1","name":"nuclear factor kappa B subunit 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"36356849[PMID]","hgnc":"7794","ensembl":"ENSG00000109320","omim":"164011","loci":["4q24"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult","Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":173.0,"area":"Worldwide","status":"Validated","source":"29477724[PMID]_32278790[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"29477724[PMID]_32278790[PMID]_ORPHANET"}],"phenotypes":null}