Acute myeloid leukemia with CEBPA somatic mutations
Synonyms: AML with CEBPA somatic mutations
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Status
- active
A subtype of acute myeloid leukemia with recurrent genetic abnormalities, characterized by clonal proliferation of myeloid blasts harboring somatic mutations of the <i>CEBPA</i> gene in the bone marrow, blood and, rarely, other tissues. It can present with anemia, thrombocytopenia, and other nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly).
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Acute myeloid leukemia with CEBPA somatic mutations | AML with CEBPA somatic mutations |
| fr | Leucémie aiguë myéloïde avec mutations somatiques de CEBPA | AML avec mutations somatiques de CEBPA · LAM avec mutations somatiques de CEBPA |
| de | Akute myeloische Leukämie mit somatischen CEBPA-Genmutationen | AML mit somatischen CEBPA-Genmutationen |
| es | Leucemia mieloide aguda con mutaciones somáticas en el gen CEBPA | MLA con mutaciones somáticas en el gen CEBPA |
| it | Leucemia mieloide acuta con mutazioni somatiche di CEBPA | AML con mutazioni somatiche di CEBPA |
| nl | Acute myeloïde leukemie met somatische CEBPA-mutaties | AML met somatische CEBPA-mutaties |
| pt | Leucemia mielóide aguda com mutações somáticas CEBPA | |
| pl | Ostra białaczka szpikowa z somtycznymi mutacjami CEBPA | AML z somtycznymi mutacjami CEBPA |
| cs | Akutní myeloidní leukémie se somatickou mutací CEBPA | AML se somatickou mutací CEBPA |
| uk | Гостра мієлоїдна лейкемія з соматичними мутаціями CEBPA | ГМЛ з соматичними мутаціями CEBPA |
| zh | CEBPA体细胞CEBPA基因突变急性髓系白血病 | AML伴CEBPA基因体细胞突变 |
| tr | CEBPA somatik mutasyonlar ile seyreden akut miyeloid lösemi | CEBPA somatik mutasyon olan AML |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 601626 | NTBT | validated | |
| ICD-10 | C92.0 | NTBT | attributed | validated |
| ICD-11 | 2A60.0 | NTBT | index | validated |
| MONDO | 0017894 | E | validated | |
| UMLS | C4707178 | 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 (2):
- ORPHA:98277Acute myeloid leukemia with recurrent genetic anomaly
rare hematological diseases; rare neoplastic diseases; rare transplant-related disorders - ORPHA:322126Genetic tumor of hematopoietic and lymphoid tissues
rare genetic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CEBPA | Disease-causing somatic mutation(s) in | Assessed | HGNC:1833 | ENSG00000245848 | 116897 | 19q13.11 | CCAAT enhancer binding protein alpha | 19357394[PMID]_22649106[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/319480
- This record as JSON: /data/d/319480.json