ORPHA:589595
Mixed phenotype acute leukemia with t(v;11q23.3)
Synonyms: MPAL with t(v;11q23.3); KMT2A rearranged · MPAL with t(v;11q23.3); MLL rearranged
- Type
- Etiological subtype
- Group
- Subtype of disorder
- Inheritance
- Not applicable
- Age of onset
- Adolescent, Adult, Childhood, Infancy
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Mixed phenotype acute leukemia with t(v;11q23.3) | MPAL with t(v;11q23.3); KMT2A rearranged · MPAL with t(v;11q23.3); MLL rearranged |
| fr | Leucémie aiguë de phénotype mixte associé à t(v;11q23.3) | MPAL avec t(v;11q23.3); KMT2A réarrangé · MPAL avec t(v;11q23.3); MLL réarrangé |
| de | Akute Leukämie mit gemischtem Phänotyp mit t(v;11q23.3) | MPAL mit t(v;11q23.3); KMT2A-Rearrangement · MPAL mit t(v;11q23.3); MLL-Rearrangement |
| es | Leucemia aguda de fenotipo mixto con t(v;11q23.3) | MPAL con t(v;11q23.3); reordenamiento del gen KMT2A · MPAL con t(v;11q23.3); reordenamiento del gen MLL |
| it | Leucemia acuta a fenotipo misto con t(v;11q23.3) | MPAL con t(v;11q23.3); riarrangiamenti in KMT2A · MPAL con t(v;11q23.3); riarrangiamenti in MLL |
| nl | Acute leukemie met gemengd fenotype en t(v;11q23.3) | MPAL met t(v;11q23.3); KMT2A herschikt · MPAL met t(v;11q23.3); MLL herschikt |
| pt | Leucemia aguda de fenótipo misto com t(v;11q23.3) | |
| pl | Ostra białaczka o mieszanym fenotypie z t(v;11q23.3) | = en |
| cs | Akutní leukémie se smíšeným fenotypem s t(v;11q23.3) | = en |
| uk | Гострий лейкоз зі змішаним фенотипом з t(v;11q23.3) | MPAL з t(v;11q23.3); KMT2A реаранжування · MPAL з t(v;11q23.3); MLL реаранжування |
| zh | Mixed phenotype acute leukemia with t(v;11q23.3) | = en |
| tr | Mixed phenotype acute leukemia with t(v;11q23.3) | = en |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | C92.6 | NTBT | attributed | validated |
| ICD-11 | 2A61 | NTBT | index | validated |
| MONDO | 0035642 | E | validated | |
| UMLS | C2826048 | 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:530995Mixed phenotype acute leukemia
rare hematological diseases; rare neoplastic diseases; rare transplant-related disorders
No children.
4
Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FLT3 | Disease-causing somatic mutation(s) in | Assessed | HGNC:3765 | ENSG00000122025 | 136351 | 13q12.2 | fms related receptor tyrosine kinase 3 | 27069254[PMID]_29072953[PMID]_26276768[PMID] |
| AFF1 | Part of a fusion gene in | Assessed | HGNC:7135 | ENSG00000172493 | 159557 | 4q21.3-q22.1 | ALF transcription elongation factor 1 | |
| KMT2A | Part of a fusion gene in | Assessed | HGNC:7132 | ENSG00000118058 | 159555 | 11q23.3 | lysine methyltransferase 2A | 27069254[PMID]_29072953[PMID]_26276768[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | Unknown | — | Worldwide | Class only | Validated | WHO Classification of Tumour[OTHER]_ORPHANET |
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | WHO Classification of Tumour[OTHER]_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/589595
- This record as JSON: /data/d/589595.json