ORPHA:676125
X-linked immune dysregulation with inflammatory bowel disease due to ELF4 deficiency
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
- Type
- Disease
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Infancy
- Status
- active
Orphadata ships no English definition for this code.
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Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | X-linked immune dysregulation with inflammatory bowel disease due to ELF4 deficiency | 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 |
| fr | Dérèglement immunitaire avec maladie inflammatoire de l'intestin par déficit en ELF4 | Dérèglement immunitaire avec maladie inflammatoire de l'intestin par déficit en protéine E74 like ETS transcription factor 4 |
| de | X-chromosomale Immundysregulation mit entzündlicher Darmerkrankung durch ELF4-Mangel | DEX · X-AIDE · X-chromosomale ELF4-Defizienz · X-chromosomale Immundysregulation mit entzündlicher Darmerkrankung durch E74-ähnlichen ETS-Transkriptionsfaktor-4-Mangel |
| es | Desregulación inmunológica con enfermedad inflamatoria intestinal por deficiencia de ELF4 ligada al cromosoma X | 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 | Disregolazione immunitaria legata all'X con malattia infiammatoria intestinale da deficit di ELF4 | 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 allX con malattia infiammatoria intestinale da deficit del fattore di trascrizione 4 ETS simil-E74 |
| nl | X-gebonden immuundisregulatie met inflammatoire darmziekte door ELF4-deficiëntie | 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 | Disfunção imune com doença inflamatória intestinal devido a deficiência ELF4 | 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 | Sprzężona z chromosomem X dysregulacja immunologiczna z chorobą zapalną jelit spowodowana niedoborem ELF4 | = en |
| cs | X-vázaná imunitní dysregulace se zánětlivým střevním onemocněním související s deficitem ELF4 | = en |
| uk | Х-зчеплена імунна дисрегуляція при запальних захворюваннях кишечника, зумовлена дефіцитом ELF4 | 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 |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 301074 | E | validated | |
| ICD-10 | D89.8 | NTBT | attributed | validated |
| ICD-11 | 4A01.2Y | NTBT | attributed | validated |
| MONDO | 0024770 | E | validated | |
| UMLS | C5575495 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:529974Immune dysregulation with inflammatory bowel disease
rare gastroenterological diseases; rare genetic diseases; rare immunological diseases; rare transplant-related disorders - ORPHA:619238Rare hereditary autoinflammatory disease
rare genetic diseases - ORPHA:324936Unclassified autoinflammatory syndrome
rare systemic and rheumatological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ELF4 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:3319 | ENSG00000102034 | 300775 | Xq26.1 | E74 like ETS transcription factor 4 | 34326534[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 cases | Worldwide | Case(s) | Validated | 34326534[PMID]_35266071[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 34326534[PMID]_35266071[PMID]_ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/676125
- This record as JSON: /data/d/676125.json