ORPHA:329469
Acute megakaryoblastic leukemia in children without Down syndrome
Synonyms: Acute megakaryoblastic leukemia in children without trisomy 21 · Non-DS-AMKL
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Not applicable
- Age of onset
- Childhood
- Status
- active
This disease is described under Acute megakaryoblastic leukemia
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Acute megakaryoblastic leukemia in children without Down syndrome | Acute megakaryoblastic leukemia in children without trisomy 21 · Non-DS-AMKL |
| fr | Leucémie aiguë mégacaryoblastique de l'enfant sans syndrome de Down | Leucémie aiguë mégacaryoblastique de l'enfant sans trisomie 21 · Non-DS-AMKL |
| de | Akute megakaryoblastische Leukämie bei Kindern ohne Down-Syndrom | Akute Megakaryoblasten-Leukämie bei Kindern ohne Trisomie 21 · Non-DS-AMKL |
| es | Leucemia megacarioblástica aguda en niños sin síndrome de Down | LMCA sin SD · Leucemia megacarioblástica aguda en niños sin trisomía 21 |
| it | Leucemia megacarioblastica acuta nei bambini senza sindrome di Down | AMKL non-DS · Leucemia megacarioblastica acuta nei bambini senza trisomia 21 |
| nl | Acute megakaryoblastische leukemie bij kinderen zonder syndroom van Down | Acute megakaryoblastaire leukemie bij kinderen zonder syndroom van Down · Acute megakaryoblastische leukemie bij kinderen zonder trisomie 21 · Non-DS-AMKL |
| pt | Leucemia megacarioblastica aguda em crianças sem síndrome Down | AMKL não-DS · Leucemia megacarioblastica aguda em crianças sem trissomia 21 |
| pl | Ostra białaczka megakarioblastyczna bez zespołu Downa | Non-DS-AMKL · Ostra białaczka megakarioblastyczna u dzieci bez zespołu Downa |
| cs | Akutní megakaryoblastická leukémie bez Downova syndromu | Non-DS-AMKL |
| uk | Гостра мегакаріобластна лейкемія у дітей без синдрому Дауна | Гостра мегакаріобластна лейкемія у дітей без трисомії 21 · Не-DS-AMKL |
| zh | 急性巨核细胞白血病不伴唐氏综合征 | 不伴唐氏综合征型AMKL |
| tr | Down sendromu olmayan akut megakaryoblastik lösemi | Non-DS-AMKL |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | C94.2 | NTBT | attributed | validated |
| ICD-11 | 2A60.36 | NTBT | attributed | validated |
| MONDO | 0018004 | E | validated | |
| UMLS | C5679860 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:518Acute megakaryoblastic leukemia
rare hematological diseases; rare neoplastic diseases; rare transplant-related disorders
No children.
4
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CBFA2T3 | Part of a fusion gene in | Assessed | HGNC:1537 | ENSG00000129993 | 603870 | 16q24.3 | CBFA2/RUNX1 partner transcriptional co-repressor 3 | 23153540[PMID] |
| GLIS2 | Part of a fusion gene in | Assessed | HGNC:29450 | ENSG00000126603 | 608539 | 16p13.3 | GLIS family zinc finger 2 | 23153540[PMID] |
5
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/329469
- This record as JSON: /data/d/329469.json