ORPHA:574918
Predisposition to severe viral infection due to IRF7 deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- All ages
- Status
- active
A rare primary immunodeficiency characterized by a severe, potentially life-threatening course of influenza A infection with acute respiratory distress. Production of type I and III interferons in response to influenza virus is very low, while other immunological abnormalities are absent and no further unusual viral infections occur.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Predisposition to severe viral infection due to IRF7 deficiency | |
| fr | Prédisposition aux infections virales sévères par déficit en IRF7 | |
| de | Prädisposition zur schweren Virusinfektion durch IRF7-Defizienz | |
| es | Predisposición a infección viral grave por deficiencia de IRF7 | |
| it | Predisposizione alle infezioni virali gravi da deficit di IRF7 | |
| nl | Predispositie voor ernstige virale infectie door IRF7-deficiëntie | |
| pt | Predisposição a infecção virica grave por deficiência de IRF7 | |
| pl | Predyspozycja do ciężkiej infekcji wirusowej z powodu niedoboru IRF7 | |
| cs | Predispozice k těžké virové infekci způsobené deficitem IRF7 | |
| uk | Схильність до тяжких вірусних інфекцій через дефіцит IRF7 | |
| zh | IRF7基因缺陷诱发的严重病毒感染 | |
| tr | IRF7 eksikliği nedeniyle ağır viral enfeksiyona yatkınlık |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616345 | E | validated | |
| ICD-10 | D84.8 | NTBT | attributed | validated |
| MONDO | 0035547 | E | validated | |
| MONDO | 14597 | E | validated | |
| MONDO | 35547 | E | validated | |
| UMLS | C4225358 | E | 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:431156Primary immunodeficiency with predisposition to severe viral infection
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 |
|---|---|---|---|---|---|---|---|---|
| IRF7 | Candidate gene tested in | Not yet assessed | HGNC:6122 | ENSG00000185507 | 605047 | 11p15.5 | interferon regulatory factor 7 | 25814066[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 1 families | Worldwide | Family(ies) | Validated | 25814066[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25814066[PMID] |
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/574918
- This record as JSON: /data/d/574918.json