ORPHA:696870
Common variable immunodeficiency phenotype due to germinal monogenic mutation
Synonyms: CVID phenotype due to germinal monogenic mutation · Monogenic CVID phenotype · Monogenic common variable immunodeficiency phenotype
- Type
- Category
- Group
- Group of disorders
- Status
- active
This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.
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Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Common variable immunodeficiency phenotype due to germinal monogenic mutation | CVID phenotype due to germinal monogenic mutation · Monogenic CVID phenotype · Monogenic common variable immunodeficiency phenotype |
| fr | Phénotype de déficit immunitaire commun variable associé à une mutation monogénique | Phénotype d'immunodéficience commune variable monogénique · Phénotype de CVID monogénique · Phénotype de DICV monogénique · Phénotype de déficit immunitaire commun variable monogénique |
| de | Variables Immundefekt-Syndrom durch monogenetische Keimbahnmutationen | CVID durch monogenetische Mutationen der Keimbahn |
| es | Fenotipo de inmunodeficiencia común variable por mutación monogénica germinal | Fenotipo de IDCV monogénica · Fenotipo de IDCV por mutación monogénica germinal · Fenotipo de inmunodeficiencia común variable monogénica |
| it | Fenotipo dellimmunodeficienza comune variabile da mutazione germinale monogenica | Fenotipo della CVID da mutazione germinale monogenica · Fenotipo della CVID monogenica · Fenotipo dell'immunodeficienza comune variabile monogenica |
| nl | Fenotype van gewone variabele immuundeficiëntie door monogene kiembaanmutatie | CVID-fenotype door monogene kiembaanmutatie · Fenotype van monogene gewone variabele immuundeficiëntie · Monogeen CVID-fenotype |
| pt | Common variable immunodeficiency phenotype due to germinal monogenic mutation | |
| pl | Common variable immunodeficiency phenotype due to germinal monogenic mutation | = en |
| cs | Common variable immunodeficiency phenotype due to germinal monogenic mutation | = 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
Children (17):
- ORPHA:692790ATP6AP1-CDG
- ORPHA:397596Activated PI3K-delta syndrome
- ORPHA:696925Adult-onset common variable immunodeficiency due to BAFF-receptor deficiency
- ORPHA:696942Childhood-onset common variable immunodeficiency phenotype due to ARHGEF1 deficiency
- ORPHA:696881Common variable immunodeficiency phenotype due to CD19/CD81 deficiency
- ORPHA:696894Common variable immunodeficiency phenotype due to CD21 deficiency
- ORPHA:317473Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency
- ORPHA:696904Common variable immunodeficiency phenotype due to IRF2BP2 deficiency
- ORPHA:697417Common variable immunodeficiency phenotype due to SEC61A1 deficiency
- ORPHA:696931Common variable immunodeficiency phenotype due to TWEAK deficiency
- ORPHA:696907Common variable immunodeficiency phenotype due to homozygous TACI deficiency
- ORPHA:369861Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- ORPHA:293978Deficiency in anterior pituitary function-variable immunodeficiency syndrome
- ORPHA:3240Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome
- ORPHA:79330MOGS-CDG
- ORPHA:696874NFKB1-related immune dysregulation
- ORPHA:696945X-linked common variable immunodeficiency phenotype due to SH3KBP1 deficiency
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
0 recordsNo prevalence record in this release.
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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/696870
- This record as JSON: /data/d/696870.json