Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement
- Type
- Disease
- Group
- Disorder
- Status
- active
A rare, malignant, neoplastic disease characterized by clonal proliferation of myeloid and/or lymphoid precursors harboring rearrangements in the PDGFRB gene, in the blood, bone marrow and often other tissues as well (spleen, lymph nodes, skin, etc.). It usually presents as chronic myelomonocytic leukemia with eosinophilia, chronic eosinophilic leukemia, atypical chronic myelogenous leukemia, juvenile myelomonocytic leukemia, myelodysplastic syndrome, acute myeloid leukemia or acute lymphoblastic leukemia. Patients usually present with anemia, leukocytosis, monocytosis, eosinophilia and/or splenomegaly, or systemic symptoms, such as fever, sweating and/or weight loss.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement | |
| fr | Tumeur myéloïde/lymphoïde associée à un réarrangement de PDGFRB | |
| de | Myeloische/lymphatische Neoplasie mit assoziiertem PDGFRB-Gen-Rearrangement | |
| es | Neoplasia mieloide/linfoide asociada a un reordenamiento del gen PDGFRB | |
| it | Neoplasia mieloide/linfoide associata a riarrangiamento di PDGFRB | |
| nl | Myeloïd/lymfoïd neoplasma geassocieerd met PDGFRB-herschikking | |
| pt | Neoplasia mielóide/linfóide associada a rearranjo do PDGFRB | |
| pl | Nowotwory szpiku związane rearanżacją PDGFRB | |
| cs | Myeloidní neoplázie spojená s přestavbou PDGFRB | |
| uk | Мієлоїдні/лімфоїдні новоутворення, повязані з перебудовою PDGFRB | |
| zh | PDGFRB重排相关髓系/淋巴系肿瘤 | |
| tr | PDGFRB yeniden düzenlemesiyle ilişkili miyeloid/lenfoid neoplazm |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | C92.7 | NTBT | attributed | validated |
| ICD-11 | 2A51 | E | specific | validated |
| MONDO | 0015690 | E | validated | |
| MONDO | 15690 | E | validated | |
| UMLS | C3472621 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:168943Myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2
rare hematological diseases; rare neoplastic diseases; rare transplant-related disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PDGFRB | Part of a fusion gene in | Assessed | HGNC:8804 | ENSG00000113721 | 173410 | 5q32 | platelet derived growth factor receptor beta | 23489324[PMID] |
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/168950
- This record as JSON: /data/d/168950.json