ORPHA:696945
X-linked common variable immunodeficiency phenotype due to SH3KBP1 deficiency
Synonyms: X-linked CVID phenotype due to SH3KBP1 deficiency · X-linked common variable immunodeficiency phenotype due to SH3-domain kinase-binding protein 1 deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Childhood, Infancy
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | X-linked common variable immunodeficiency phenotype due to SH3KBP1 deficiency | X-linked CVID phenotype due to SH3KBP1 deficiency · X-linked common variable immunodeficiency phenotype due to SH3-domain kinase-binding protein 1 deficiency |
| fr | Phénotype de déficit immunitaire commun variable lié à l'X par déficit en SH3KBP1 | Phénotype d'immunodéficience commune variable lié à l'X par déficit en SH3KBP1 · Phénotype de CVID lié à l'X par déficit en SH3KBP1 · Phénotype de DICV lié à l'X par déficit en SH3KBP1 · Phénotype de déficit imunitaire commun variable lié à l'X par déficit en protéine SH3-domain kinase-binding protein 1 |
| de | Variables Immundefekt-Syndrom durch SH3KBP1-Mangel | CVID durch SH3KBP1-Defizienz |
| es | Fenotipo de inmunodeficiencia común variable ligada al cromosoma X por deficiencia de SH3KBP1 | Fenotipo de IDCV ligada al cromosoma X por deficiencia de SH3KBP1 · Fenotipo de inmunodeficiencia común variable ligada al cromosoma X por deficiencia de la proteína 1 de unión a la cinasa del dominio SH3 |
| it | Fenotipo dellimmunodeficienza comune variabile legata all'X da deficit di SH3KBP1 | Fenotipo della CVID legata all'X da deficit di SH3KBP1 · Fenotipo dellimmunodeficienza comune variabile legata all'X da deficit della proteina 1 legante la chinasi del dominio SH3 |
| nl | Fenotype van X-gebonden gewone variabele immuundeficiëntie door SH3KBP1-deficiëntie | Fenotype van X-gebonden gewone variabele immuundeficiëntie door deficiëntie van SH3-domein kinase-bindingsproteïne 1 · X-gebonden CVID-fenotype door SH3KBP1-deficiëntie |
| pt | Common variable immunodeficiency phenotype due to SH3KBP1 deficiency | |
| pl | X-linked common variable immunodeficiency phenotype due to SH3KBP1 deficiency | = en |
| cs | X-linked common variable immunodeficiency phenotype due to SH3KBP1 deficiency | = en |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300310 | E | 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
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SH3KBP1 | Disease-causing germline mutation(s) in | Assessed | HGNC:13867 | ENSG00000147010 | 300374 | Xp22.12 | SH3 domain containing kinase binding protein 1 | 29636373[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 29636373[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 29636373[PMID]_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/696945
- This record as JSON: /data/d/696945.json