ORPHA:664711
EBV-induced lymphoproliferative disease due to PRKCD deficiency
Synonyms: EBV-induced lymphoproliferative disease due to protein kinase C delta deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- 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 PRKCD deficiency | EBV-induced lymphoproliferative disease due to protein kinase C delta deficiency |
| fr | Maladie lymphoproliférative associée à l'EBV par déficit en PRKCD | Maladie lymphoproliférative associée au virus Epstein-Barr par déficit en protéine kinase C delta |
| de | EBV-induzierte lymphoproliferative Erkrankung durch PRKCD-Mangel | Epstein-Barr-Virus assoziierte lymphoproliferative Erkrankung aufgrund Proteinkinase C-delta-Defizienz · PRKCD-Defizienz |
| es | Enfermedad linfoproliferativa inducida por EBV por deficiencia de PRKCD | Enfermedad linfoproliferativa inducida por EBV por deficiencia de la proteína quinasa C delta |
| it | Malattia linfoproliferativa indotta da EBV da deficit PRKCD | Malattia linfoproliferativa indotta da EBV da deficit di protein-chinasi C delta |
| nl | EBV-geïnduceerde lymfoproliferatieve aandoening door PRKCD-deficiëntie | Epstein-Barrvirus-geïnduceerde lymfoproliferatieve aandoening door deficiëntie van proteïnekinase C delta |
| pt | Doença linfoproliferativa EBV-induzida por deficiência PRKCD | Doença linfoproliferativa EBV-induzida por deficiência da proteína cinase C delta |
| pl | Choroba limfoproliferacyjna wywołana EBV z powodu niedoboru PRKCD | = en |
| cs | EBV indukované lymfoproliferativní onemocnění způsobené deficitem PRKCD | = en |
| uk | EBV-індуковане лімфопроліферативне захворювання, зумовлене дефіцитом PRKCD | Лімфопроліферативне захворювання, спричинене EBV, внаслідок дефіциту протеїнкінази С дельта |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615559 | E | validated | |
| ICD-10 | D82.3 | NTBT | attributed | validated |
| MONDO | 8000024 | E | validated | |
| UMLS | C5925065 | 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 (3):
- 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 - ORPHA:717757Rare immune disease with inflammatory bowel disease
rare gastroenterological diseases; rare genetic diseases; rare transplant-related disorders
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PRKCD | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:9399 | ENSG00000163932 | 176977 | 3p21.1 | protein kinase C delta | 23430113[PMID] |
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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/664711
- This record as JSON: /data/d/664711.json