{"orpha":676125,"name":"X-linked immune dysregulation with inflammatory bowel disease due to ELF4 deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["DEX","Deficiency in ELF4, X-linked","X-AIDE","X-linked autoinflammatory and immunodeficiency disease associated with ELF4","X-linked immune dysregulation with inflammatory bowel disease due to E74 like ETS transcription factor 4 deficiency"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-676125/","orphanet_url":"https://www.orpha.net/en/disease/detail/676125","names":{"fr":{"name":"Dérèglement immunitaire avec maladie inflammatoire de l'intestin par déficit en ELF4","synonyms":["Dérèglement immunitaire avec maladie inflammatoire de l'intestin par déficit en protéine E74 like ETS transcription factor 4"]},"de":{"name":"X-chromosomale Immundysregulation mit entzündlicher Darmerkrankung durch ELF4-Mangel","synonyms":["DEX","X-AIDE","X-chromosomale ELF4-Defizienz","X-chromosomale Immundysregulation mit entzündlicher Darmerkrankung durch E74-ähnlichen ETS-Transkriptionsfaktor-4-Mangel"]},"es":{"name":"Desregulación inmunológica con enfermedad inflamatoria intestinal por deficiencia de ELF4 ligada al cromosoma X","synonyms":["Deficiencia en el gen ELF4 ligada al cromosoma X","Desregulación inmunológica con enfermedad inflamatoria intestinal por deficiencia del factor de transcripción ETS-4 similar a E74 ligada al cromosoma X","Enfermedad autoinflamatoria e inmunodeficiencia asociada a ELF4 ligada al cromosoma X","X-AIDE"]},"it":{"name":"Disregolazione immunitaria legata all'X con malattia infiammatoria intestinale da deficit di ELF4","synonyms":["X-AIDE","Malattia autoinfiammatoria e immunodeficenza legata all'X correlata a ELF4","Deficit di ELF4 legato all'X","Malattia autoinfiammatoria e immunodeficienza legata all'X correlata a ELF4","Deficit di ELF4, legato all'X","Disregolazione immunitaria legata all'X con malattia infiammatoria dell'intestino da deficit del fattore di trascrizione ETS 4 simile a E74","DEX","Disregolazione immunitaria legata all’X con malattia infiammatoria intestinale da deficit del fattore di trascrizione 4 ETS simil-E74"]},"nl":{"name":"X-gebonden immuundisregulatie met inflammatoire darmziekte door ELF4-deficiëntie","synonyms":["DEX","X-AIDE","X-gebonden ELF4-deficiëntie","X-gebonden auto-inflammatoire en immuundeficiënte aandoening geassocieerd met ELF4","X-gebonden immuundisregulatie met inflammatoire darmziekte door deficiëntie van E74-achtige ETS-transcriptiefactor 4"]},"pt":{"name":"Disfunção imune com doença inflamatória intestinal devido a deficiência ELF4","synonyms":["AIDE-X","DEX","Deficiência em ELF4, ligada ao X","Disfunção imune com doença inflamatória intestinal devido à deficiência do fator de transcrição 4 do ETS semelhante ao E74 ligada ao X","Disfunção imune ligada ao X com doença inflamatória intestinal por deficiência E74 like ETS factor de transcrição 4","Doença autoinflamatória e imunodeficiência associada a ELF4 ligada ao X"]},"pl":{"name":"Sprzężona z chromosomem X dysregulacja immunologiczna z chorobą zapalną jelit spowodowana niedoborem ELF4","synonyms":["DEX","Deficiency in ELF4, X-linked","X-AIDE","X-linked autoinflammatory and immunodeficiency disease associated with ELF4","X-linked immune dysregulation with inflammatory bowel disease due to E74 like ETS transcription factor 4 deficiency"]},"cs":{"name":"X-vázaná imunitní dysregulace se zánětlivým střevním onemocněním související s deficitem ELF4","synonyms":["DEX","Deficiency in ELF4, X-linked","X-AIDE","X-linked autoinflammatory and immunodeficiency disease associated with ELF4","X-linked immune dysregulation with inflammatory bowel disease due to E74 like ETS transcription factor 4 deficiency"]},"uk":{"name":"Х-зчеплена імунна дисрегуляція при запальних захворюваннях кишечника, зумовлена дефіцитом ELF4","synonyms":["Дефіцит ELF4, зчеплений з Х-хромосомою","DEX","X-AIDE","Х-зчеплене аутозапальне та імунодефіцитне захворювання, асоційоване з ELF4","Х-зчеплена імунна дисрегуляція із запальними захворюваннями кишечника, зумовлена дефіцитом транскрипційного фактора 4 E74, подібного до ETS"]}},"xrefs":[{"source":"OMIM","code":"301074","qualifier":"E","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":"0024770","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5575495","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":619238,"name":"Rare hereditary autoinflammatory disease","classifications":[156]},{"orpha":324936,"name":"Unclassified autoinflammatory syndrome","classifications":[196]}],"children":[],"genes":[{"symbol":"ELF4","name":"E74 like ETS transcription factor 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"34326534[PMID]","hgnc":"3319","ensembl":"ENSG00000102034","omim":"300775","loci":["Xq26.1"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"34326534[PMID]_35266071[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"34326534[PMID]_35266071[PMID]_ORPHANET"}],"phenotypes":null}