raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:402017

Acute myeloid leukemia with t(9;11)(p22;q23)

Synonyms: AML with t(9;11)(p22;q23)

Type
Disease
Group
Disorder
Inheritance
Not applicable
Status
active

A tumor of hematopoietic and lymphoid tissues characterized by the most common AML-causing MLL translocation, resulting in the MLL-MLLT3-fusion protein. It can occur either as a primary neoplasm or secondary to previous chemo-/radiation therapy. Clinical manifestations result from accumulation of malignant myeloid cells within the bone marrow, peripheral blood and other organs and include leukocytosis, anemia, thrombocytopenia, fever, bone pain, fatigue, pallor, easy bruising and frequent bleeding.

1

Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enAcute myeloid leukemia with t(9;11)(p22;q23)AML with t(9;11)(p22;q23)
frLeucémie myéloïde aiguë associée à t(9;11)(p22;q23)
deAkute myeloische Leukämie mit t(9;11)(p22;q23)AML mit t(9;11)(p22;q23)
esLeucemia mieloide aguda con t(9;11)(p22;q23)LMA con t(9;11)(p22;q23)
itLeucemia mieloide acuta con t(9;11)(p22;q23)AML con t(9;11)(p22;q23)
nlAcute myeloïde leukemie met t(9;11)(p22;q23)AML met t(9;11)(p22;q23)
ptLeucemia mieloide aguda com t(9;11)(p22;q23)
plOstra białaczka szpikowa z t(9;11)(p22;q23)AML z t(9;11)(p22;q23)
csAkutní myeloidní leukémie s t(9;11)(p22;q23)AML s t(9;11)(p22;q23)
ukГостра мієлоїдна лейкемія з t(9;11)(p22;q23)AML з t(9;11)(p22;q23)
zh急性髓系白血病伴t(9;11)(p22;q23)变异AML伴t(9;11)(p22;q23)
trt(9; 11) (p22; q23) ile seyreden akut miyeloid lösemit(9;11)(p22;q23) ile seyreden AML

Definition in:

2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
ICD-10C92.0NTBTattributedvalidated
ICD-112A60.0NTBTindexvalidated
MONDO0018434Evalidated
UMLSC2919692Evalidated

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):

No children.

4

Genes

2 direct
GeneAssociationStatusHGNCEnsemblOMIMLocusNameSource of validation
KMT2APart of a fusion gene inAssessedHGNC:7132ENSG0000011805815955511q23.3lysine methyltransferase 2A19357394[PMID]
MLLT3Part of a fusion gene inAssessedHGNC:7136ENSG000001718431595589p21.3MLLT3 super elongation complex subunit19357394[PMID]
5

Prevalence and incidence

0 records

No prevalence record in this release.

6

HPO phenotypes

Orphanet has no HPO annotation for this code in this release.

7

Sources for this card