ORPHA:664726
EBV-induced lymphoproliferative disease due to CD137 deficiency
Synonyms: Epstein-Barr virus-induced lymphoproliferative disease due to Cell differentiation 137 protein 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
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | EBV-induced lymphoproliferative disease due to CD137 deficiency | Epstein-Barr virus-induced lymphoproliferative disease due to Cell differentiation 137 protein deficiency |
| fr | Maladie lymphoproliférative associée à l'EBV par déficit en CD137 | Maladie lymphoproliférative associée au virus Epstein-Barr par déficit en protéine Cell differentiation 137 |
| de | EBV-induzierte lymphoproliferative Erkrankung durch CD137-Mangel | Epstein-Barr-Virus assoziierte lymphoproliferative Erkrankung aufgrund CD137-Defizienz |
| es | Enfermedad linfoproliferativa inducida por EBV por deficiencia de CD137 | Enfermedad linfoproliferativa inducida por el virus de Epstein-Barr por deficiencia de la proteína de diferenciación celular 137 |
| it | Malattia linfoproliferativa indotta da EBV da deficit di CD137 | Malattia linfoproliferativa indotta dal virus di Epstein-Barr da deficit della proteina 137 di differenziazione cellulare |
| nl | EBV-geïnduceerde lymfoproliferatieve aandoening door CD137-deficiëntie | Epstein-Barrvirus-geïnduceerde lymfoproliferatieve aandoening door deficiëntie van celdifferentiatie 137-proteïne |
| pt | Doença linfoproliferativa EBV-induzida por deficiência de CD137 | Doença linfoproliferativa Epstein-Barr virus-induzida por deficiência da proteína 137 da diferenciação celular |
| pl | Choroba limfoproliferacyjna wywołana EBV spowodowana niedoborem CD137 | = en |
| cs | EBV indukované lymfoproliferativní onemocnění způsobené deficitem CD137 | = en |
| uk | EBV-індуковане лімфопроліферативне захворювання, зумовлене дефіцитом CD137 | Індуковане вірусом Епштейна-Барр лімфопроліферативне захворювання, спричинене дефіцитом білка клітинної диференціації 137 |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 620282 | E | validated | |
| ICD-10 | D82.3 | NTBT | attributed | validated |
| MONDO | 859526 | E | validated | |
| UMLS | C5925064 | 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 (2):
- ORPHA:664456Immune dysregulation disease with immunodeficiency associated with EBV susceptibility
rare genetic diseases; rare immunological diseases - ORPHA:664450Inherited cancer-predisposing lymphoproliferative syndrome
rare genetic diseases; rare neoplastic diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TNFRSF9 | Disease-causing germline mutation(s) in | Assessed | HGNC:11924 | ENSG00000049249 | 602250 | 1p36.23 | TNF receptor superfamily member 9 | 30872117[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 30872117[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 30872117[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/664726
- This record as JSON: /data/d/664726.json