ORPHA:696874
NFKB1-related immune dysregulation
Synonyms: Nuclear factor kappa B subunit 1-related immune dysregulation
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Adult, Childhood
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | NFKB1-related immune dysregulation | Nuclear factor kappa B subunit 1-related immune dysregulation |
| fr | Dérégulation immunitaire associée à NFKB1 | Dérèglement immunitaire associé à la protéine nuclear factor kappa B subunit 1 |
| de | Immundysregulation, NFKB1-assoziierte | |
| es | Desregulación inmunológica asociada a NFKB1 | Desregulación inmunológica asociada a la subunidad 1 del factor nuclear kappa B |
| it | Disregolazione immunitaria correlata a NFKB1 | Disregolazione immunitaria correlata alla subunità 1 del fattore nucleare kappa B |
| nl | NFKB1-gerelateerde immuundisregulatie | Immuundisregulatie gerelateerd aan nucleaire factor kappa B subeenheid 1 |
| pt | NKFB1-related immune dysregulation | |
| pl | NFKB1-related immune dysregulation | = en |
| cs | NFKB1-related immune dysregulation | = en |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616576 | E | validated | |
| ICD-10 | D81.8 | NTBT | attributed | not yet validated |
| ICD-11 | 4A01.2Y | NTBT | attributed | not yet validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:696870Common variable immunodeficiency phenotype due to germinal monogenic mutation
rare genetic diseases; rare immunological diseases - ORPHA:169361Immune dysregulation disease with immunodeficiency
rare genetic diseases; rare immunological diseases - ORPHA:664450Inherited cancer-predisposing lymphoproliferative syndrome
rare genetic diseases; rare neoplastic diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| NFKB1 | Disease-causing germline mutation(s) in | Assessed | HGNC:7794 | ENSG00000109320 | 164011 | 4q24 | nuclear factor kappa B subunit 1 | 36356849[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 173 cases | Worldwide | Case(s) | Validated | 29477724[PMID]_32278790[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 29477724[PMID]_32278790[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.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/696874
- This record as JSON: /data/d/696874.json