Acute myeloid leukemia with 11q23 abnormalities
Synonyms: AML with 11q23 abnormalities
- Type
- Disease
- Group
- Disorder
- Age of onset
- Childhood
- Status
- active
A rare tumor arising from hematopoietic and lymphoid tissues characterized by abnormal proliferation and differentiation of a clonal population of myeloid stem cells carrying unspecific 11q23 abnormalities. Clinical manifestations result from accumulation of malignant myeloid cells within the bone marrow, peripheral blood and other organs, and include leukocytosis, anemia, thrombocytopenia, fatigue, anorexia and weight loss.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Acute myeloid leukemia with 11q23 abnormalities | AML with 11q23 abnormalities |
| fr | Leucémie aiguë myéloïde associée à des anomalies en 11q23 | |
| de | AML mit 11q23-Anomalien | |
| es | Leucemia mieloide aguda por anomalías en 11q23 | LMA con anomalías 11q23 |
| it | Leucemia mieloide acuta con anomalie di 11q23 | AML con anomalie 11q23 |
| nl | Acute myeloïde leukemie met 11q23-anomalieën | AML met 11q23-anomalieën |
| pt | Leucemia mielóide, aguda, com anomalias 11q23 | |
| pl | Ostra białaczka szpikowa z nieprawidłowościami 11q23 | AML z nieprawidłowościami 11q23 |
| cs | Akutní myeloidní leukémie s abnormalitami 11q23 | AMS s abnormalitami 11q23 |
| uk | Гостра мієлоїдна лейкемія з аномаліями 11q23 | ГМЛ з аномаліями 11q23 |
| zh | 急性髓系白血病伴11q23异常 | AML伴11q23异常 |
| tr | 11q23 anormallikleri ile seyreden akut miyeloid lösemi | 11q23 anormallikleri ile seyreden AML |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | C92.6 | E | specific | validated |
| ICD-11 | 2A60.0 | NTBT | index | validated |
| ICD-11 | XH1E41 | E | specific | validated |
| MONDO | 0020317 | E | validated | |
| UMLS | C1292775 | 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
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| KMT2A | Role in the phenotype of | Assessed | HGNC:7132 | ENSG00000118058 | 159555 | 11q23.3 | lysine methyltransferase 2A |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | <1 / 1 000 000 | — | Europe | Class only | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/98831
- This record as JSON: /data/d/98831.json