ORPHA:664699
EBV-induced lymphoproliferative disease due to RASGRP1 deficiency
Synonyms: Epstein-Barr virus-induced lymphoproliferative disease due to Ras guanyl nucleotide-releasing protein 1 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 RASGRP1 deficiency | Epstein-Barr virus-induced lymphoproliferative disease due to Ras guanyl nucleotide-releasing protein 1 deficiency |
| fr | Maladie lymphoproliférative associée à l'EBV par déficit en RASGRP1 | Maladie lymphoproliférative associée au virus Epstein-Barr par déficit en protéine Ras guanyl nucleotide-releasing protein 1 |
| de | EBV-induzierte lymphoproliferative Erkrankung durch RASGPR1-Mangel | Epstein-Barr-Virus assoziierte lymphoproliferative Erkrankung aufgrund RASGPR1-Defizienz |
| es | Enfermedad linfoproliferativa inducida por EBV por deficiencia de RASGPR1 | Enfermedad linfoproliferativa inducida por el virus de Epstein-Barr por deficiencia del factor intercambiador de nucleótidos de Ras-guanina |
| it | Malattia linfoproliferativa indotta da EBV da deficit di RASGPR1 | Malattia linfoproliferativa indotta dal virus di Epstein-Barr da deficit della proteina Ras 1 di rilascio del nucleotide guanilico |
| nl | EBV-geïnduceerde lymfoproliferatieve aandoening door RASGPR1-deficiëntie | Epstein-Barrvirus-geïnduceerde lymfoproliferatieve aandoening door deficiëntie van Ras-guanylnucleotide-releasing proteïne 1 |
| pt | Doença linfoproliferativa EBV-induzida por deficiência RASGPR1 | Doença linfoproliferativa Epstein-Barr virus-induzida por deficiência de proteína liberadora 1 de nucleotídeo Ras-guanil |
| pl | Choroba limfoproliferacyjna wywołana EBV z powodu niedoboru RASGPR1 | = en |
| cs | EBV indukované lymfoproliferativní onemocnění způsobené deficitem RASGRP1 | = en |
| uk | EBV-індуковане лімфопроліферативне захворювання, зумовлене дефіцитом RASGRP1 | Індуковане вірусом Епштейна-Барр лімфопроліферативне захворювання, спричинене дефіцитом Ras гуанілнуклеотид-рилізинг протеїну 1 |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | D82.3 | NTBT | attributed | validated |
| UMLS | C5925066 | 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 |
|---|---|---|---|---|---|---|---|---|
| RASGRP1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:9878 | ENSG00000172575 | 603962 | 15q14 | RAS guanyl releasing protein 1 | 28822832[PMID]_29282224[PMID] |
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/664699
- This record as JSON: /data/d/664699.json