ORPHA:658951
Early-onset immune dysregulation due to DOCK11 complete deficiency
Synonyms: Early-onset immune dysregulation due to dedicator of cytokinesis 11 protein complete 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 due to DOCK11 complete deficiency | Early-onset immune dysregulation due to dedicator of cytokinesis 11 protein complete deficiency |
| fr | Dérèglement immunitaire à début précoce par déficit complet en DOCK11 | Dérèglement immunitaire à début précoce par déficit complet en dedicator of cytokinesis 11 |
| de | Früh einsetzende Immundysregulation durch vollständigen DOCK11-Mangel | |
| es | Desregulación inmunológica de inicio precoz por deficiencia completa de DOCK11 | Desregulación inmunológica de inicio precoz por deficiencia completa de la proteína dedicada a la citocinesis 11 |
| it | Disregolazione immunitaria ad esordio precoce da deficit completo di DOCK11 | Disregolazione immunitaria ad esordio precoce da deficit completo della proteina DOCK11 |
| nl | Vroeg-optredende immuundisregulatie door volledige DOCK11-deficiëntie | Vroeg-optredende immuundisregulatie door volledige deficiëntie van 'dedicator of cytokinesis 11'-proteïne |
| pt | Desregulação imune de início precoce devida a deficiência completa de DOCK11 | Desregulação imune de início precoce devida a deficiência completa do dedicador proteína citocinese 11 |
| pl | Dysregulacja immunologiczna o wczesnym początku spowodowana całkowitym niedoborem DOCK11 | = en |
| cs | Časná imunitní dysregulace způsobená úplným deficitem DOCK11 | = en |
| uk | Рання імунна дисрегуляція, зумовлена повним дефіцитом DOCK11 | Рання імунна дисрегуляція внаслідок повної недостатності 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 | 4A01.2Y | NTBT | attributed | validated |
| MONDO | 0958138 | E | validated | |
| MONDO | 958138 | E | validated | |
| UMLS | C5925136 | 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 (4):
- ORPHA:529974Immune dysregulation with inflammatory bowel disease
rare gastroenterological diseases; rare genetic diseases; rare immunological diseases; rare transplant-related disorders - ORPHA:506219Rare disorder potentially indicated for hematopoietic stem cell transplant
rare transplant-related disorders - ORPHA:271870Rare genetic systemic or rheumatologic disease
rare genetic diseases - ORPHA:182231Rare rheumatologic disease
rare systemic and rheumatological diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| DOCK11 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:23483 | ENSG00000147251 | 300681 | Xq24 | dedicator of cytokinesis 11 | 37342957[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 12 cases | Worldwide | Case(s) | Validated | 36952639[PMID]_37342957[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 36952639[PMID]_37342957[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/658951
- This record as JSON: /data/d/658951.json