ORPHA:697417
Common variable immunodeficiency phenotype due to SEC61A1 deficiency
Synonyms: CVID due to SEC61A1 deficiency · Common variable immunodeficiency phenotype due to SEC61 complex, alpha-1 subuntit deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- 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 SEC61A1 deficiency | CVID due to SEC61A1 deficiency · Common variable immunodeficiency phenotype due to SEC61 complex, alpha-1 subuntit deficiency |
| fr | Phénotype de déficit immunitaire commun variable par déficit en SEC61A1 | Phénotype d'immunodéficience commune variable par déficit en SEC61A1 · Phénotype de CVID par déficit en SEC61A1 · Phénotype de DICV par déficit en SEC61A1 · Phénotype de déficit immunitaire commun variable par déficit en SEC61 complex, alpha 1 subunit |
| de | Variables Immundefekt-Syndrom durch SEC61A1-Mangel | CVID durch SEC61A1-Defizienz |
| es | Common variable immunodeficiency phenotype due to SEC61A1 deficiency | |
| it | Fenotipo dellimmunodeficienza comune variabile da deficit di SEC61A1 | CVID da deficit di SEC61A1 · Fenotipo dellimmunodeficienza comune variabile da deficit del complesso SEC61, subunità alfa-1 |
| nl | Fenotype van gewone variabele immuundeficiëntie door SEC61A1-deficiëntie | CVID-fenotype door SEC61A1-deficiëntie · Fenotype van gewone variabele immuundeficiëntie door deficiëntie van SEC61-complex, alfa-1 subeenheid |
| pt | Common variable immunodeficiency phenotype due to SEC61A1 deficiency | |
| pl | Common variable immunodeficiency phenotype due to SEC61A1 deficiency | = en |
| cs | Common variable immunodeficiency phenotype due to SEC61A1 deficiency | = en |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 620670 | E | validated | |
| ICD-10 | D80.8 | NTBT | attributed | not yet 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.
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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.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SEC61A1 | Disease-causing germline mutation(s) in | Assessed | HGNC:18276 | ENSG00000058262 | 609213 | 3q21.3 | SEC61 translocon subunit alpha 1 | 28782633[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 10 cases | Worldwide | Case(s) | Validated | 28782633[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 28782633[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/697417
- This record as JSON: /data/d/697417.json