ORPHA:696857
Common variable immunodeficiency phenotype due to germinal digenic/polygenic mutations
Synonyms: CVID phenotype due to germinal digenic/polygenic mutations
- Type
- Disease
- Group
- Disorder
- Inheritance
- Multigenic/multifactorial
- Age of onset
- Adolescent, Adult, 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 germinal digenic/polygenic mutations | CVID phenotype due to germinal digenic/polygenic mutations |
| fr | Phénotype de déficit immunitaire commun variable associé à des mutations germinales digéniques/polygéniques | Phénotype d'immunodéficience commune variable associé à des mutations germinales digéniques/polygéniques · Phénotype de CVID associé à des mutations germinales digéniques/polygéniques · Phénotype de DICV associé à des mutations germinales digéniques/polygéniques |
| de | Variables Immundefekt-Syndrom durch digene/polygene Keimbahnmutationen | CVID durch digene/polygene Mutationen der Keimbahn |
| es | Fenotipo de inmunodeficiencia común variable por mutaciones digénicas/poligénicas germinales | Fenotipo de IDCV por mutaciones digénicas/poligénicas germinales |
| it | Fenotipo dellimmunodeficienza comune variabile da mutazioni germinali digeniche/poligeniche | Fenotipo della CVID da mutazioni germinali digeniche/poligeniche |
| nl | Fenotype van gewone variabele immuundeficiëntie door digene/polygene kiembaanmutaties | CVID-fenotype door digene/polygene kiembaanmutaties |
| pt | Common variable immunodeficiency phenotype due to germinal digenic/polygenic mutations | |
| pl | Common variable immunodeficiency phenotype due to germinal digenic/polygenic mutations | = en |
| cs | Common variable immunodeficiency phenotype due to germinal digenic/polygenic mutations | = 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:696851Common variable immunodeficiency and related disorders
rare genetic diseases; rare immunological diseases
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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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/696857
- This record as JSON: /data/d/696857.json