ORPHA:99887
Acute megakaryoblastic leukemia in children with Down syndrome
Synonyms: Acute megakaryoblastic leukemia in children with trisomy 21 · DS-AMKL in children with Down syndrome · DS-AMKL in children with trisomy 21
- 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 with Down syndrome | Acute megakaryoblastic leukemia in children with trisomy 21 · DS-AMKL in children with Down syndrome · DS-AMKL in children with trisomy 21 |
| fr | Leucémie aiguë mégacaryoblastique de l'enfant avec un syndrome de Down | Leucémie aiguë mégacaryoblastique de l'enfant avec trisomie 21 |
| de | Akute megakaryoblastische Leukämie bei Kindern mit Down-Syndrom | Akute Megakaryoblasten-Leukämie bei Kindern mit Trisomie 21 · DS-AMKL · DS-AMKL bei Kindern mit Trisomie 21 |
| es | Leucemia megacarioblástica aguda en niños con síndrome de Down | LMCA-SD en niños con síndrome de Down · LMCA-SD en niños con trisomía 21 · Leucemia megacarioblástica aguda en niños con trisomía 21 |
| it | Leucemia megacarioblastica acuta nei bambini con sindrome di Down | DS-AMKL · DS-AMKL nei bambini con sindrome di Down · DS-AMKL nei bambini con trisomia 21 · Leucemia megacarioblastica acuta nei bambini con trisomia 21 |
| nl | Acute megakaryoblastische leukemie bij kinderen met syndroom van Down | Acute megakaryoblastaire leukemie bij kinderen met syndroom van Down · Acute megakaryoblastische leukemie bij kinderen met trisomie 21 · DS-AMKL bij kinderen met syndroom van Down · DS-AMKL bij kinderen met trisomie 21 |
| pt | Leucemia megacarioblástica aguda em crianças com síndrome Down | DS-AMKL em crianças com síndrome Down · DS-AMKL em crianças com trissomia 21 · Leucemia megacarioblástica aguda em crianças com trissomia 21 |
| pl | Ostra białaczka megakarioblastyczna w zespole Downa | DS-AMKL · Ostra białaczka megakarioblastyczna u dzieci z zespołem Downa |
| cs | Akutní megakaryoblastická leukémie u Downova syndromu | DS-AMKL |
| uk | Гостра мегакаріобластна лейкемія у дітей із синдромом Дауна | Гостра мегакаріобластна лейкемія у дітей з трисомією 21 · DS-AMKL у дітей із синдромом Дауна · DS-AMKL у дітей з трисомією 21 |
| zh | 唐氏综合征伴急性巨核细胞白血病 | DS-AMKL |
| tr | Down sendromunda akut megakaryoblastik lösemi | DS-AMKL |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | C94.2 | NTBT | attributed | validated |
| ICD-11 | 2A60.41 | NTBT | specific | validated |
| MONDO | 0020526 | E | validated | |
| UMLS | C5925108 | 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.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GATA1 | Disease-causing somatic mutation(s) in | Assessed | HGNC:4170 | ENSG00000102145 | 305371 | Xp11.23 | GATA binding protein 1 | 14636651[PMID] |
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
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/99887
- This record as JSON: /data/d/99887.json