ORPHA:664456
Immune dysregulation disease with immunodeficiency associated with EBV susceptibility
Synonyms: Immune dysregulation disease with immunodeficiency associated with Epstein-Barr virus susceptibility
- Type
- Clinical group
- Group
- Group of disorders
- Status
- active
This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.
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Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Immune dysregulation disease with immunodeficiency associated with EBV susceptibility | Immune dysregulation disease with immunodeficiency associated with Epstein-Barr virus susceptibility |
| fr | Maladie avec dérèglement et déficit immunitaire associée à une susceptibilité à l'EBV | Maladie avec dérèglement et déficit immunitaire associée à une susceptibilité au virus Epstein-Barr |
| de | Immundysregulation mit Immundefekt und assoziierter EBV-Suszeptibilität | |
| es | Enfermedad de desregulación inmunológica con inmunodeficiencia asociada a susceptibilidad al EBV | Enfermedad de desregulación inmunológica con inmunodeficiencia asociada a susceptibilidad al virus de Epstein-Barr |
| it | Malattia da disregolazione immunitaria con immunodeficienza associata alla suscettibilità allEBV | Malattia da disregolazione immunitaria con immunodeficienza associata alla suscettibilità al virus di Epstein-Barr |
| nl | Immuundisregulatie met immuundeficiëntie geassocieerd met EBV-susceptibiliteit | Immuundisregulatie met immuundeficiëntie geassocieerd met susceptibiliteit voor Epstein-Barrvirus |
| pt | Doença de imunodesregulação com imunodeficiência associada a suscetibilidade a EBV | Doença de imunodesregulação com imunodeficiência associada a suscetibilidade ao vírus Epstein-Barr |
| pl | Zaburzenia regulacji immunologicznej z niedoborem odporności związane z podatnością na wirus EBV | = en |
| cs | Imunitní dysregulace s imunodeficiencí spojenou s vnímavostí k EBV | = en |
| uk | Захворювання імунної дисрегуляції з імунодефіцитом, повязаним із сприйнятливістю до EBV | Захворювання імунної дисрегуляції з імунодефіцитом, повязаним із сприйнятливістю до вірусу Епштейна-Барр |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| UMLS | C5925056 | 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:169361Immune dysregulation disease with immunodeficiency
rare genetic diseases; rare immunological diseases
Children (10):
- ORPHA:538963Combined immunodeficiency due to ITK deficiency
- ORPHA:664734EBV susceptibility with hemophagocytic lymphohistiocytosis as a major feature
- ORPHA:542301EBV-induced lymphoproliferative disease due to CARMIL2 deficiency
- ORPHA:664726EBV-induced lymphoproliferative disease due to CD137 deficiency
- ORPHA:538958EBV-induced lymphoproliferative disease due to CD70 deficiency
- ORPHA:420573EBV-induced lymphoproliferative disease due to CTPS1 deficiency
- ORPHA:664711EBV-induced lymphoproliferative disease due to PRKCD deficiency
- ORPHA:664699EBV-induced lymphoproliferative disease due to RASGRP1 deficiency
- ORPHA:664729EBV-induced lymphoproliferative disease due to TET2 deficiency
- ORPHA:317476XMEN
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
0 recordsNo prevalence record in this release.
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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/664456
- This record as JSON: /data/d/664456.json