{"orpha":658946,"name":"Early-onset immune dysregulation with autoimmunity due to DOCK11 partial deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Early-onset immune dysregulation with autoimmunity due to partial dedicator of cytokinesis 11 protein deficiency"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-658946/","orphanet_url":"https://www.orpha.net/en/disease/detail/658946","names":{"fr":{"name":"Dérèglement immunitaire à début précoce avec autoimmunité par déficit partiel en DOCK11","synonyms":["Dérèglement immunitaire à début précoce avec autoimmunité par déficit précoce en dedicator of cytokinesis 11"]},"de":{"name":"Früh einsetzende Immundysregulation mit Autoimmunität durch partiellen DOCK11-Mangel","synonyms":["DOCK11-Defizienz, partielle"]},"es":{"name":"Desregulación inmunológica de inicio precoz por deficiencia parcial de DOCK11","synonyms":["Desregulación inmunológica de inicio precoz asociada a la proteína dedicada a la citocinesis 11"]},"it":{"name":"Disregolazione immunitaria a esordio precoce con autoimmunità da deficit parziale di DOCK11","synonyms":["Disregolazione immunitaria a esordio precoce con autoimmunità da deficit parziale della proteina dedicatore della citochinesi 11","Malattia autoimmune ad esordio precoce correlata alla proteina della citocinesi 11"]},"nl":{"name":"Vroeg-optredende immuundisregulatie met auto-immuniteit door partiële DOCK11-deficiëntie","synonyms":["Vroeg-optredende immuundisregulatie met auto-immuniteit door partiële deficiëntie van 'dedicator of cytokinesis 11'-proteïne"]},"pt":{"name":"Disregulação imune de início precoce com autoimunidade por deficiência parcial de DOCK11","synonyms":["Disregulação imune de início precoce com autoimunidade devido a deficiência parcial da proteína dedicadora da citocinese 11"]},"pl":{"name":"Choroba autoimmunologiczna o wczesnym początku spowodowana częściowym niedoborem DOCK11","synonyms":["Zaburzenia regulacji immunologicznej o wczesnym początku z zaburzeniami autoimmunologicznymi wskutek częściowego niedoboru DOCK11"]},"cs":{"name":"Časná autoimunitní porucha způsobená částečným deficitem DOCK11","synonyms":["Early-onset immune dysregulation with autoimmunity due to partial dedicator of cytokinesis 11 protein deficiency"]},"uk":{"name":"Рання імунна дисрегуляція з аутоімунним захворюванням, зумовленим частковим дефіцитом DOCK11","synonyms":["Рання імунна дисрегуляція з аутоімунними захворюваннями внаслідок часткового дефіциту білка 11 десикатора цитокінезу"]}},"xrefs":[{"source":"OMIM","code":"301109","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D89.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A01.21","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0958137","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"958137","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5925146","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":183494,"name":"Genetic immune deficiency with skin involvement","classifications":[156]},{"orpha":79391,"name":"Immune deficiency with skin involvement","classifications":[187]},{"orpha":529974,"name":"Immune dysregulation with inflammatory bowel disease","classifications":[152,156,195,233]},{"orpha":169355,"name":"Immunodeficiency syndrome with autoimmunity","classifications":[156,195,233]},{"orpha":324933,"name":"Mixed autoinflammatory and autoimmune syndrome","classifications":[156,196,231]}],"children":[],"genes":[{"symbol":"DOCK11","name":"dedicator of cytokinesis 11","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"36952639[PMID]","hgnc":"23483","ensembl":"ENSG00000147251","omim":"300681","loci":["Xq24"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":8.0,"area":"Worldwide","status":"Validated","source":"36952639[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"36952639[PMID]_ORPHANET"}],"phenotypes":null}