KMT2A Partial Tandem Duplication

Preferred Label : KMT2A Partial Tandem Duplication;

NCIt synonyms : Partial Tandem Duplication of MLL; MLL-PTD; KMT2A-PTD;

NCIt related terms : MLL Partial Tandem Duplication;

NCIt definition : A chromosomal rearrangement where exons 5 through 11 or 5 through 12 of the MLL gene are duplicated and inserted upstream of exon 4 of the gene. This duplication results in transcripts and proteins that have the N-terminal region, which contains the AT hook DNA-binding motifs, and the transcriptional repression domain duplicated. This mutation is associated with myelodysplastic syndrome (MDS) and susceptibility of MDS progression to acute myeloid leukemia.;

PubMed : 15774615; 8275471;

Details

Origin ID

C113507;

UMLS CUI

C3829001;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
cytogenetic_abnormality_involves_chromosome
- Human Chromosome 11 [NCIt concept]
molecular_abnormality_involves_gene
- KMT2A Gene [NCIt concept]
related_to_genetic_biomarker
- KMT2A Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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