Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13)
Synonyms: Megakaryoblastic AML with t(1;22)(p13;q13)
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Status
- active
Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) is a rare subtype of acute myeloid leukemia with recurrent cytogenetic abnormalities characterized by clonal proliferation of myeloid blasts with predominantly megakaryoblastic differentiation in the bone marrow and blood, often with extensive infiltration of the abdominal organs. It occurs typically in infants and usually presents with hepatosplenomegaly, anemia, thrombocytopenia and nonspecific symptoms related to ineffective hematopoiesis (fatigue, bleeding and bruising, recurrent infections). Myelofibrosis and fibrosis of other infiltrated organs is also characteristic of this disease.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) | Megakaryoblastic AML with t(1;22)(p13;q13) |
| fr | Leucémie myéloïde aiguë mégacaryoblastique associée à t(1;22)(p13;q13) | |
| de | Megakaryoblastische akute myeloische Leukämie mit t(1;22)(p13;q13) | Megakaryoblastische AML mit t(1;22)(p13;q13) |
| es | Leucemia mieloide aguda megacarioblástica con t(1;22)(p13;q13) | LMA megacarioblástica con t(1;22)(p13;q13) |
| it | Leucemia mieloide acuta megacarioblastica con t(1;22)(p13;q13) | AML megacarioblastica con t(1;22)(p13;q13) |
| nl | Megakaryoblastische acute myeloïde leukemie met t(1;22)(p13;q13) | Megakaryoblastische AML met t(1;22)(p13;q13) |
| pt | Leucemia mielóide aguda megacarioblástica com t(1;22)(p13;q13) | |
| pl | Megakarioblastyczna ostra białaczka szpikowa z t(1;22)(p13;q13) | Megakarioblastyczna AML z t(1;22)(p13;q13) |
| cs | Akutní myeloidní leukémie megakaryoblastická s t(1;22)(p13;q13) | Megakaryoblastická AML s t(1,22)(p13;q13) |
| uk | Мегакаріобластна гостра мієлоїдна лейкемія з t(1;22)(p13;q13) | Мегакаріобластна ГМЛ з t(1;22)(p13;q13) |
| zh | 急性巨核细胞白血病伴t(1;22)(p13;q13)变异 | 巨核细胞性AML伴t(1;22)(p13;q13) |
| tr | t(1; 22)(p13; q13) ile seyreden megakaryoblastik akut miyeloid lösemi | t(1; 22)(p13; q13) ile seyreden megakaryoblastik AML |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | C94.2 | NTBT | attributed | validated |
| ICD-11 | 2A60.0 | NTBT | index | validated |
| ICD-11 | XH16K4 | E | specific | validated |
| MONDO | 0018436 | E | validated | |
| UMLS | C4706584 | 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:98277Acute myeloid leukemia with recurrent genetic anomaly
rare hematological diseases; rare neoplastic diseases; rare transplant-related disorders
No children.
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MRTFA | Part of a fusion gene in | Assessed | HGNC:14334 | ENSG00000196588 | 606078 | 22q13.1-q13.2 | myocardin related transcription factor A | 19357394[PMID] |
| RBM15 | Part of a fusion gene in | Assessed | HGNC:14959 | ENSG00000162775 | 606077 | 1p13.3 | RNA binding motif protein 15 | 19357394[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/402023
- This record as JSON: /data/d/402023.json