{"orpha":658951,"name":"Early-onset immune dysregulation due to DOCK11 complete deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Early-onset immune dysregulation due to dedicator of cytokinesis 11 protein complete deficiency"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-658951/","orphanet_url":"https://www.orpha.net/en/disease/detail/658951","names":{"fr":{"name":"Dérèglement immunitaire à début précoce par déficit complet en DOCK11","synonyms":["Dérèglement immunitaire à début précoce par déficit complet en dedicator of cytokinesis 11"]},"de":{"name":"Früh einsetzende Immundysregulation durch vollständigen DOCK11-Mangel"},"es":{"name":"Desregulación inmunológica de inicio precoz por deficiencia completa de DOCK11","synonyms":["Desregulación inmunológica de inicio precoz por deficiencia completa de la proteína dedicada a la citocinesis 11"]},"it":{"name":"Disregolazione immunitaria ad esordio precoce da deficit completo di DOCK11","synonyms":["Disregolazione immunitaria ad esordio precoce da deficit completo della proteina DOCK11"]},"nl":{"name":"Vroeg-optredende immuundisregulatie door volledige DOCK11-deficiëntie","synonyms":["Vroeg-optredende immuundisregulatie door volledige deficiëntie van 'dedicator of cytokinesis 11'-proteïne"]},"pt":{"name":"Desregulação imune de início precoce devida a deficiência completa de DOCK11","synonyms":["Desregulação imune de início precoce devida a deficiência completa do dedicador proteína citocinese 11"]},"pl":{"name":"Dysregulacja immunologiczna o wczesnym początku spowodowana całkowitym niedoborem DOCK11","synonyms":["Early-onset immune dysregulation due to dedicator of cytokinesis 11 protein complete deficiency"]},"cs":{"name":"Časná imunitní dysregulace způsobená úplným deficitem DOCK11","synonyms":["Early-onset immune dysregulation due to dedicator of cytokinesis 11 protein complete deficiency"]},"uk":{"name":"Рання імунна дисрегуляція, зумовлена повним дефіцитом DOCK11","synonyms":["Рання імунна дисрегуляція внаслідок повної недостатності 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":"4A01.2Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0958138","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"958138","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5925136","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98004,"name":"Rare immune disease"},"parents":[{"orpha":529974,"name":"Immune dysregulation with inflammatory bowel disease","classifications":[152,156,195,233]},{"orpha":506219,"name":"Rare disorder potentially indicated for hematopoietic stem cell transplant","classifications":[233]},{"orpha":271870,"name":"Rare genetic systemic or rheumatologic disease","classifications":[156]},{"orpha":182231,"name":"Rare rheumatologic disease","classifications":[196]}],"children":[],"genes":[{"symbol":"DOCK11","name":"dedicator of cytokinesis 11","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"37342957[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":12.0,"area":"Worldwide","status":"Validated","source":"36952639[PMID]_37342957[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"36952639[PMID]_37342957[PMID]_ORPHANET"}],"phenotypes":null}