ORPHA:696881
Common variable immunodeficiency phenotype due to CD19/CD81 deficiency
Synonyms: CD19 deficiency · CVID phenotype due to CD19/CD81 deficiency · Common variable immunodeficiency phenotype due to cluster of differentiation 19/cluster or differentiation 81 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 CD19/CD81 deficiency | CD19 deficiency · CVID phenotype due to CD19/CD81 deficiency · Common variable immunodeficiency phenotype due to cluster of differentiation 19/cluster or differentiation 81 deficiency |
| fr | Phénotype de déficit immunitaire commun variable par déficit en CD19/CD81 | Déficit en CD19 · Phénotype d'immunodéficience commune variable par déficit en CD19/CD81 · Phénotype de CVID par déficit en CD19/CD81 · Phénotype de DICV par déficit en CD19/CD81 · Phénotype de déficit immunitaire commun variable par déficit en cluster of differentiation 19/cluster of differentiation 81 |
| de | Variables Immundefekt-Syndrom durch CD19/CD81-Mangel | CD19-Defizienz · CVID durch CD19/CD81-Defizienz |
| es | Fenotipo de inmunodeficiencia común variable por deficiencia de CD19/CD81 | Deficiencia de CD19 · Fenotipo de IDCV por deficiencia de CD19/CD81 · Fenotipo de inmunodeficiencia común variable por deficiencia del grupo de diferenciación 19/81 |
| it | Fenotipo dellimmunodeficienza comune variabile da deficit di CD19/CD81 | Deficit di CD19 · Fenotipo della CVID da deficit di CD19/CD81 · Fenotipo dellimmunodeficienza comune variabile da deficit del cluster di differenziazione 19/cluster di differenziazione 81 |
| nl | Fenotype van gewone variabele immuundeficiëntie door CD19/CD81-deficiëntie | CD19-deficiëntie · CVID-fenotype door CD19/CD81-deficiëntie · Fenotype van gewone variabele immuundeficiëntie door deficiëntie van cluster van differentiatie 19/cluster van differentiatie 81 |
| pt | Common variable immunodeficiency phenotype due to CD19/CD81 deficiency | |
| pl | Common variable immunodeficiency phenotype due to CD19/CD81 deficiency | = en |
| cs | Common variable immunodeficiency phenotype due to CD19/CD81 deficiency | = en |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 613493 | BTNT | validated | |
| OMIM | 613496 | BTNT | validated | |
| ICD-10 | D83.8 | NTBT | attributed | validated |
| ICD-11 | 4A01.0Y | NTBT | attributed | 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
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CD19 | Disease-causing germline mutation(s) in | Assessed | HGNC:1633 | ENSG00000177455 | 107265 | 16p11.2 | CD19 molecule | 21330302[PMID] |
| CD81 | Disease-causing germline mutation(s) in | Assessed | HGNC:1701 | ENSG00000110651 | 186845 | 11p15.5 | CD81 molecule | 21970952[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 15 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/696881
- This record as JSON: /data/d/696881.json