ORPHA:696931
Common variable immunodeficiency phenotype due to TWEAK deficiency
Synonyms: CVID phenotype due to TWEAK deficiency · Common variable immunodeficiency phenotype due to TNF-related weak inducer of apoptosis
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Childhood
- Status
- active
Orphadata ships no English definition for this code.
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Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Common variable immunodeficiency phenotype due to TWEAK deficiency | CVID phenotype due to TWEAK deficiency · Common variable immunodeficiency phenotype due to TNF-related weak inducer of apoptosis |
| fr | Phénotype de déficit immunitaire commun variable par déficit en TWEAK | Phénotype d'immunodéficience commune variable par déficit en TWEAK · Phénotype de CVID par déficit en TWEAK · Phénotype de DICV par déficit en TWEAK · Phénotype de déficit immunitaire commun variable par déficit en protéine TNF-related weak inducer of apoptosis |
| de | Variables Immundefekt-Syndrom durch TWEAK-Mangel | CVID durch TWEAK-Defizienz · TWEAK-Defekt |
| es | Fenotipo de inmunodeficiencia común variable por deficiencia de TWEAK | Fenotipo de IDCV por deficiencia de TWEAK · Fenotipo de inmunodeficiencia común variable por inductor débil de apoptosis similar al TNF |
| it | Fenotipo dellimmunodeficienza comune variabile da deficit di TWEAK | CVID da deficit di TWEAK · Fenotipo dellimmunodeficienza comune variabile da induttore debole dellapoptosi correlato al TNF |
| nl | Fenotype van gewone variabele immuundeficiëntie door TWEAK-deficiëntie | CVID-fenotype door TWEAK-deficiëntie · Fenotype van gewone variabele immuundeficiëntie door deficiëntie van TNF-gerelateerde zwakke inducer van apoptose |
| pt | Common variable immunodeficiency phenotype due to TWEAK deficiency | |
| pl | Common variable immunodeficiency phenotype due to TWEAK deficiency | = en |
| cs | Common variable immunodeficiency phenotype due to TWEAK deficiency | = en |
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Cross-references
qualifier = Orphanet mapping relationNo cross-references in this release.
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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.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TNFSF12 | Disease-causing germline mutation(s) in | Assessed | HGNC:11927 | ENSG00000239697 | 602695 | 17p13.1 | TNF superfamily member 12 | 23493554[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 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.
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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/696931
- This record as JSON: /data/d/696931.json