ORPHA:658946
Early-onset immune dysregulation with autoimmunity due to DOCK11 partial deficiency
Synonyms: Early-onset immune dysregulation with autoimmunity due to partial dedicator of cytokinesis 11 protein deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Childhood, 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 | Early-onset immune dysregulation with autoimmunity due to DOCK11 partial deficiency | Early-onset immune dysregulation with autoimmunity due to partial dedicator of cytokinesis 11 protein deficiency |
| fr | Dérèglement immunitaire à début précoce avec autoimmunité par déficit partiel en DOCK11 | Dérèglement immunitaire à début précoce avec autoimmunité par déficit précoce en dedicator of cytokinesis 11 |
| de | Früh einsetzende Immundysregulation mit Autoimmunität durch partiellen DOCK11-Mangel | DOCK11-Defizienz, partielle |
| es | Desregulación inmunológica de inicio precoz por deficiencia parcial de DOCK11 | Desregulación inmunológica de inicio precoz asociada a la proteína dedicada a la citocinesis 11 |
| it | Disregolazione immunitaria a esordio precoce con autoimmunità da deficit parziale di DOCK11 | 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 | Vroeg-optredende immuundisregulatie met auto-immuniteit door partiële DOCK11-deficiëntie | Vroeg-optredende immuundisregulatie met auto-immuniteit door partiële deficiëntie van 'dedicator of cytokinesis 11'-proteïne |
| pt | Disregulação imune de início precoce com autoimunidade por deficiência parcial de DOCK11 | Disregulação imune de início precoce com autoimunidade devido a deficiência parcial da proteína dedicadora da citocinese 11 |
| pl | Choroba autoimmunologiczna o wczesnym początku spowodowana częściowym niedoborem DOCK11 | Zaburzenia regulacji immunologicznej o wczesnym początku z zaburzeniami autoimmunologicznymi wskutek częściowego niedoboru DOCK11 |
| cs | Časná autoimunitní porucha způsobená částečným deficitem DOCK11 | = en |
| uk | Рання імунна дисрегуляція з аутоімунним захворюванням, зумовленим частковим дефіцитом DOCK11 | Рання імунна дисрегуляція з аутоімунними захворюваннями внаслідок часткового дефіциту білка 11 десикатора цитокінезу |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 301109 | BTNT | validated | |
| ICD-10 | D89.8 | NTBT | attributed | validated |
| ICD-11 | 4A01.21 | NTBT | attributed | validated |
| MONDO | 0958137 | E | validated | |
| MONDO | 958137 | E | validated | |
| UMLS | C5925146 | 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 (5):
- ORPHA:183494Genetic immune deficiency with skin involvement
rare genetic diseases - ORPHA:79391Immune deficiency with skin involvement
rare skin diseases - ORPHA:529974Immune dysregulation with inflammatory bowel disease
rare gastroenterological diseases; rare genetic diseases; rare immunological diseases; rare transplant-related disorders - ORPHA:169355Immunodeficiency syndrome with autoimmunity
rare genetic diseases; rare immunological diseases; rare transplant-related disorders - ORPHA:324933Mixed autoinflammatory and autoimmune syndrome
rare genetic diseases; rare systemic and rheumatological diseases; rare systemic or rheumatologic diseases of childhood
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| DOCK11 | Disease-causing germline mutation(s) in | Assessed | HGNC:23483 | ENSG00000147251 | 300681 | Xq24 | dedicator of cytokinesis 11 | 36952639[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 8 cases | Worldwide | Case(s) | Validated | 36952639[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 36952639[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/658946
- This record as JSON: /data/d/658946.json