Terminology Service for NFDI4Health
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FLT3 Internal Tandem Duplication

Go to external page http://purl.obolibrary.org/obo/NCIT_C67494

A genetic abnormality that arises from duplications of the juxtamembrane portion of the gene and results in constitutive activation of the FLT3 receptor tyrosine kinase protein in early hematopoietic progenitor cells. It is associated with acute myelogenous leukemia where it appears to correlate with a poor prognosis. [ ]

Term info

Label

FLT3 Internal Tandem Duplication

Synonyms
  • Activating FLT3-ITD Gene Mutation
  • Activating FLT3-ITD Mutation
  • FLT3 Internal Tandem Duplication
  • FLT3-ITD
  • FLT3-ITD Activating Mutation
  • FLT3-ITD Mutation
  • FLT3/ITD Mutation
Subsets

NCIT_C90259, NCIT_C132009, NCIT_C116977, NCIT_C142800, NCIT_C142799

ALT DEFINITION

A genetic abnormality that arises from duplications of the juxtamembrane portion of the gene, and which results in constitutive activation of the FLT3 receptor tyrosine kinase protein in early hematopoietic progenitor cells. It is associated with acute myeloid leukemia.

Contributing Source

CTRP, NICHD

Display Name

FLT3 Internal Tandem Duplication

Has NICHD Parent

http://purl.obolibrary.org/obo/NCIT_C36292

Legacy Concept Name

FLT3_Internal_Tandem_Duplication

NICHD Hierarchy Term

FLT3 Internal Tandem Duplication

Preferred Name

FLT3 Internal Tandem Duplication

Semantic Type

Cell or Molecular Dysfunction

UMLS CUI

C2348499

code

C67494