ORPHA:696904
Common variable immunodeficiency phenotype due to IRF2BP2 deficiency
Synonyms: CVID phenotype due to IRF2BP2 deficiency · Common variable immunodeficiency phenotype due to IFN regulatory factor-2 binding protein 2 deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Childhood
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Common variable immunodeficiency phenotype due to IRF2BP2 deficiency | CVID phenotype due to IRF2BP2 deficiency · Common variable immunodeficiency phenotype due to IFN regulatory factor-2 binding protein 2 deficiency |
| fr | Phénotype de déficit immunitaire commun variable par déficit en IRF2BP2 | Phenotype de déficit immunitaire commun variable par déficit en protéine IFN regulatory factor-2 binding protein 2 · Phénotype d'immunodéficience commune variable par déficit en IRF2BP2 · Phénotype de CVID par déficit en IRF2BP2 · Phénotype de DICV par déficit en IRF2BP2 |
| de | Variables Immundefekt-Syndrom durch IRF2BP2-Mangel | CVID durch IRF2BP2-Defizienz |
| es | Fenotipo de inmunodeficiencia común variable por deficiencia de IRF2BP2 | Fenotipo de IDCV por deficiencia de IRF2BP2 · Fenotipo de inmunodeficiencia común variable por deficiencia de la proteína 2 de unión al factor regulador del IFN-2 |
| it | Fenotipo dellimmunodeficienza comune variabile da deficit di IRF2BP2 | Fenotipo della CVID da deficit di IRF2BP2 · Fenotipo dellimmunodeficienza comune variabile da deficit della proteina 2 legante il fattore 2 di regolazione dell'IFN |
| nl | Fenotype van gewone variabele immuundeficiëntie door IRF2BP2-deficiëntie | CVID-fenotype door IRF2BP2-deficiëntie · Fenotype van gewone variabele immuundeficiëntie door deficiëntie van IFN regulatorische factor-2 bindingproteïne 2 |
| pt | Common variable immunodeficiency phenotype due to IRF2BP2 deficiency | |
| pl | Common variable immunodeficiency phenotype due to IRF2BP2 deficiency | = en |
| cs | Common variable immunodeficiency phenotype due to IRF2BP2 deficiency | = en |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 617765 | E | 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 (2):
- ORPHA:696870Common variable immunodeficiency phenotype due to germinal monogenic mutation
rare genetic diseases; rare immunological diseases - ORPHA:717757Rare immune disease with inflammatory bowel disease
rare gastroenterological diseases; rare genetic diseases; rare transplant-related disorders
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| IRF2BP2 | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:21729 | ENSG00000168264 | 615332 | 1q42.3 | interferon regulatory factor 2 binding protein 2 | 27016798[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 20 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 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/696904
- This record as JSON: /data/d/696904.json