ORPHA:696925
Adult-onset common variable immunodeficiency due to BAFF-receptor deficiency
Synonyms: Adult-onset CVID phenotype due to BAFF-receptor deficiency · Adult-onset common variable immunodeficiency phenotype due to B-cell activating factor receptor deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Adult
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Adult-onset common variable immunodeficiency due to BAFF-receptor deficiency | Adult-onset CVID phenotype due to BAFF-receptor deficiency · Adult-onset common variable immunodeficiency phenotype due to B-cell activating factor receptor deficiency |
| fr | Phénotype de déficit immunitaire commun variable de l'adulte par déficit en BAFFR | Phénotype d'immunodéficience commune variable de l'adulte par déficit en BAFFR · Phénotype de CVID de l'adulte par déficit en BAFFR · Phénotype de DICV de l'adulte par déficit en BAFFR · Phénotype de déficit immunitaire commun variable de l'adulte par déficit en protéine B-cell activating factor receptor |
| de | Variables Immundefekt-Syndrom durch BAFF-Rezeptor-Mangel mit Beginn im Erwachsenenalter | Adultes CVID durch BAFF-Rezeptor-Defizienz |
| es | Inmunodeficiencia común variable por deficiencia del receptor BAFF de inicio en el adulto | Fenotipo de IDCV de inicio en la edad adulta por deficiencia del receptor BAFF · Fenotipo de inmunodeficiencia común variable de inicio en la edad adulta por deficiencia del receptor del factor activador de células B |
| it | Immunodeficienza comune variabile ad esordio nell'età adulta da deficit del recettore BAFF | CVID ad esordio nell'età adulta da deficit del recettore BAFF · Fenotipo dellimmunodeficienza comune variabile ad esordio nell'età adulta da deficit del recettore del fattore di attivazione delle cellule B |
| nl | Fenotype van gewone variabele immuundeficiëntie door deficiëntie van BAFF-receptor met aanvang in de volwassenheid | CVID-fenotype door deficiëntie van BAFF-receptor met aanvang in de volwassenheid · Fenotype van gewone variabele immuundeficiëntie door deficiëntie van receptor van B-cel-activerende factor met aanvang in de volwassenheid |
| pt | Common variable immunodeficiency due to BAFF-receptor deficiency | |
| pl | Adult-onset common variable immunodeficiency due to BAFF-receptor deficiency | = en |
| cs | Adult-onset common variable immunodeficiency due to BAFF-receptor deficiency | = en |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 613494 | 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 (1):
- ORPHA:696870Common variable immunodeficiency phenotype due to germinal monogenic mutation
rare genetic diseases; rare immunological diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TNFRSF13C | Disease-causing germline mutation(s) in | Assessed | HGNC:17755 | ENSG00000159958 | 606269 | 22q13.2 | TNF receptor superfamily member 13C | 19666484[PMID] |
5
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | 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.
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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/696925
- This record as JSON: /data/d/696925.json