ORPHA:696907
Common variable immunodeficiency phenotype due to homozygous TACI deficiency
Synonyms: CVID phenotype due to homozygous TACI deficiency · Common variable immunodeficiency phenotype due to homozygous TNFRSF13B deficiency · Common variable immunodeficiency phenotype due to homozygous transmembrane activator and CAML interactor deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- 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 homozygous TACI deficiency | CVID phenotype due to homozygous TACI deficiency · Common variable immunodeficiency phenotype due to homozygous TNFRSF13B deficiency · Common variable immunodeficiency phenotype due to homozygous transmembrane activator and CAML interactor deficiency |
| fr | Phénotype de déficit immunitaire commun variable par déficit en TACI homozygote | Phénotype d'immunodéficience commune variable par déficit en TACI homozygote · Phénotype de CVID par déficit en TACI homozygote · Phénotype de DICV par déficit en TACI homozygote · Phénotype de déficit immunitaire commun variable par déficit en TNFRSF13B homozygote · Phénotype de déficit immunitaire commun variable par déficit homozygote en protéine transmembrane activator and CAML interactor |
| de | Variables Immundefekt-Syndrom durch TACI-Mangel | CVID durch TACI-Defizienz |
| es | Fenotipo de inmunodeficiencia común variable por deficiencia homocigota de TACI | Fenotipo de IDCV por deficiencia homocigota de TACI · Fenotipo de inmunodeficiencia común variable por deficiencia homocigota de TNFRSF13B · Fenotipo de inmunodeficiencia común variable por deficiencia homocigota del activador transmembrana e interactuador de CAML |
| it | Fenotipo dellimmunodeficienza comune variabile da deficit omozigote di TACI | Fenotipo della CVID da deficit omozigote di TACI · Fenotipo dellimmunodeficienza comune variabile da deficit omozigote di TNFRSF13B · Fenotipo dellimmunodeficienza comune variabile da deficit omozigote dell'attivatore transmembrana e dell'interattore CAML |
| nl | Fenotype van gewone variabele immuundeficiëntie door homozygote TACI-deficiëntie | CVID-fenotype door homozygote TACI-deficiëntie · Fenotype van gewone variabele immuundeficiëntie door homozygote TNFRSF13B-deficiëntie · Fenotype van gewone variabele immuundeficiëntie door homozygote deficiëntie van transmembranaire activator en CAML-interactor |
| pt | Common variable immunodeficiency phenotype due to homozygous TACI deficiency | |
| pl | Common variable immunodeficiency phenotype due to homozygous TACI deficiency | = en |
| cs | Common variable immunodeficiency phenotype due to homozygous TACI deficiency | = en |
2
Cross-references
qualifier = Orphanet mapping relationE 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.
Codes that Orphanet moved or referred to this one:
- ORPHA:99974OBSOLETE: TACI-related selective deficiency of IgA referred to · inactive
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TNFRSF13B | Disease-causing germline mutation(s) in | Assessed | HGNC:18153 | ENSG00000240505 | 604907 | 17p11.2 | TNF receptor superfamily member 13B | 16007086[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/696907
- This record as JSON: /data/d/696907.json