ORPHA:664729
EBV-induced lymphoproliferative disease due to TET2 deficiency
Synonyms: Epstein-Barr virus-induced lymphoproliferative disease due to tet methylcytosine dioxygenase 2 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 TET2 deficiency | Epstein-Barr virus-induced lymphoproliferative disease due to tet methylcytosine dioxygenase 2 deficiency |
| fr | Maladie lymphoproliférative associée à l'EBV par déficit en TET2 | Maladie lymphoproliférative associée au virus Epstein-Barr par déficit en protéine tet methylcytosine dioxygenase 2 |
| de | EBV-induzierte lymphoproliferative Erkrankung durch TET2-Mangel | Epstein-Barr-Virus assoziierte lymphoproliferative Erkrankung aufgrund Tet-Methylcytosin-Dioxygenase 2-Defizienz |
| es | Enfermedad linfoproliferativa inducida por EBV por deficiencia de TET2 | Enfermedad linfoproliferativa inducida por el virus de Epstein-Barr por deficiencia de tet metilcitosina dioxigenasa 2 |
| it | Malattia linfoproliferativa indotta da EBV da deficit di TET2 | Malattia linfoproliferativa indotta dal virus di Epstein-Barr da deficit di Tet metilcitosina diossigenasi 2 |
| nl | EBV-geïnduceerde lymfoproliferatieve aandoening door TET2-deficiëntie | Epstein-Barrvirus-geïnduceerde lymfoproliferatieve aandoening door deficiëntie van tet-methylcytosine-dioxygenase 2 |
| pt | Doença linfoproliferativa EBV-induzida por deficiência TET2 | Doença linfoproliferativa Epstein-Barr virus-induzida por deficiência de tet metilcitosina dioxigenase 2 |
| pl | Choroba limfoproliferacyjna wywołana EBV z powodu niedoboru TET2 | = en |
| cs | EBV indukované lymfoproliferativní onemocnění způsobené deficitem TET2 | = en |
| uk | EBV-індуковане лімфопроліферативне захворювання, зумовлене дефіцитом TET2 | Індуковане вірусом Епштейна-Барр лімфопроліферативне захворювання, спричинене дефіцитом тет-метилцитозиндіоксигенази 2 |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 619126 | E | validated | |
| ICD-10 | D82.3 | NTBT | attributed | validated |
| MONDO | 30858 | E | validated | |
| UMLS | C5925062 | 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 (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.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TET2 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:25941 | ENSG00000168769 | 612839 | 4q24 | tet methylcytosine dioxygenase 2 | 32518946[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 32518946[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 32518946[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.
6
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/664729
- This record as JSON: /data/d/664729.json