Myeloid/lymphoid neoplasm associated with PDGFRA 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 PDGFRA gene, in the blood, bone marrow and often other tissues as well (spleen, lymph nodes, skin, etc.). It usually presents as chronic eosinophilic leukemia or, less commonly, as acute myeloid leukemia or T-lymphoblastic leukemia with eosinophilia. Patients usually present with eosinophilia, anemia, thrombocytopenia, neutrophilia, splenomegaly, lymphadenopathy, fever, sweating and/or weight loss. Tissue infiltration by eosinophils can manifest with skin rash, erythema, cough, neurological alterations, gastrointestinal symptoms or, rarely, endomyocardial fibrosis and restrictive cardiomyopathy.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement | |
| fr | Tumeur myéloïde/lymphoïde associée à un réarrangement de PDGFRA | |
| de | Myeloische/lymphatische Neoplasie mit assoziiertem PDGFRA-Gen-Rearrangement | |
| es | Neoplasia mieloide/linfoide asociada a un reordenamiento del gen PDGFRA | |
| it | Neoplasia mieloide/linfoide associata a riarrangiamento di PDGFRA | |
| nl | Myeloïd/lymfoïd neoplasma geassocieerd met PDGFRA-herschikking | |
| pt | Neoplasia mielóide/linfóide associada a rearranjo do PDGFRA | |
| pl | Nowotwory szpiku związane rearanżacją PDGFRA | |
| cs | Myeloidní neoplázie spojená s přestavbou PDGFRA | |
| uk | Мієлоїдні/лімфоїдні новоутворення, повязані з перебудовою PDGFRA | |
| zh | PDGFRA重排相关的髓系/淋巴系肿瘤 | |
| tr | PDGFRA yeniden düzenlenmesiyle 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 | 2A50 | E | specific | validated |
| MONDO | 0015689 | E | validated | |
| MONDO | 15689 | E | validated | |
| UMLS | C4545381 | 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 |
|---|---|---|---|---|---|---|---|---|
| PDGFRA | Part of a fusion gene in | Assessed | HGNC:8803 | ENSG00000134853 | 173490 | 4q12 | platelet derived growth factor receptor alpha | 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/168947
- This record as JSON: /data/d/168947.json