acute myeloid leukemia, KIT gene mutation

Summary

acute myeloid leukemia, KIT gene mutation (MONDO:0100420) is a cancer. A subtype of acute myeloid leukemia — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Classification: Cancer

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	acute myeloid leukemia, KIT gene mutation
Mondo ID	MONDO:0100420
GARD	0026203
Is cancer (heuristic)	yes

Also known as: AML, c-KIT Gene Mutation · AML, C-KIT Mutation · AML, CD117 Gene Mutation · AML, CD117 Mutation · AML, KIT gene mutation · AML, KIT Proto-Oncogene Tyrosine Protein Kinase Gene Mutation · AML, V-Kit Hardy-Zuckerman 4 Feline Sarcoma Viral Oncogene Homolog Gene Mutation

Disease family

This is a subtype of acute myeloid leukemia. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

Classification path: human disease › disease by etiologic mechanism › cancer or benign tumor › neoplastic disease or syndrome › neoplasm › hematopoietic and lymphoid system neoplasm › hematopoietic and lymphoid cell neoplasm › leukemia › myeloid leukemia › acute myeloid leukemia › acute myeloid leukemia, KIT gene mutation

Related subtypes (77): childhood acute myeloid leukemia, acute monocytic leukemia, acute myeloid leukemia with t(8;21)(q22;q22) translocation, acute myeloid leukemia by FAB classification, inherited acute myeloid leukemia, acute myeloid leukemia with CEBPA somatic mutations, acute myeloid leukemia with t(8;16)(p11;p13) translocation, acute myeloid leukemia with t(6;9)(p23;q34), acute myeloid leukemia with t(9;11)(p22;q23), acute myeloid leukemia with inv3(p21;q26.2) or t(3;3)(p21;q26.2), megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13), acute myeloid leukemia with NPM1 somatic mutations, acute myeloid leukemia with multilineage dysplasia, therapy related acute myeloid leukemia and myelodysplastic syndrome, acute leukemia of ambiguous lineage, acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22), acute myeloid leukemia with 11q23 abnormalities, acute myeloid leukemia with BCR-ABL1, acute myeloid leukemia with mutated NPM1, acute myeloid leukemia, inv(16)(p13.1;q22), acute myeloid leukemia, t(16;16)(p13.1;q22), acute myeloid leukemia, t(15;17)(q24;q21), acute myeloid leukemia, t(9;11)(p21.3;q23.3), acute myeloid leukemia, t(10;11)(p12;q23), acute myeloid leukemia, t(10;11)(p11.2;q23), acute myeloid leukemia, t(1;11)(q21;q23), acute myeloid leukemia, t(4;11)(q21;q23), acute myeloid leukemia, t(6;11)(q27;q23), acute myeloid leukemia, t(6;9)(p23;q34.1), acute myeloid leukemia, t(11;19)(q23;p13), acute myeloid leukemia, t(11;19)(q23;p13.1), acute myeloid leukemia, t(11;19)(q23.3;p13.3), acute myeloid leukemia, t(v;11q23.3), acute myeloid leukemia, Monosomy 7, acute myeloid leukemia, Monosomy 5, acute myeloid leukemia, Trisomy 8, acute myeloid leukemia, der12p, acute myeloid leukemia, t(2;12), acute myeloid leukemia, t(11;17), acute myeloid leukemia, t(8;16), acute myeloid leukemia, t(1;22), acute myeloid leukemia, t(5;11)(q35;p15), acute myeloid leukemia, t(7;12)(q36;p13), acute myeloid leukemia, t(9;22)(q34.1;q11.2), acute myeloid leukemia, inv(3)(q21.3;q26.2), acute myeloid leukemia, t(3;3)(q21.3;q26.2), acute myeloid leukemia, t(3;12)(q23;p12.3), acute myeloid leukemia, del(5q31-q32), acute myeloid leukemia, del(13q14-q21), acute myeloid leukemia, loss of chromosome 17p, acute myeloid leukemia, MLL gene rearrangement, acute myeloid leukemia, Non-KMT2A MLLT10 rearrangement positive, acute myeloid leukemia, inv(16)(p13.3;q24.3), acute myeloid leukemia, t(11;15)(p15;q35), acute myeloid leukemia, t(16;21)(q24;q22), acute myeloid leukemia, t(3;5)(q25;q34), acute myeloid leukemia, t(16;21)(p11;q22), acute myeloid leukemia, monoallelic CEBPA gene mutation, acute myeloid leukemia, biallelic CEBPA gene mutation, acute myeloid leukemia, CEBPA gene mutation, acute myeloid leukemia, FLT3 internal tandem duplication, acute myeloid leukemia, FLT3 tyrosine kinase domain point mutation, acute myeloid leukemia, WT1 gene mutation, acute myeloid leukemia, KIT exon 17 mutation, acute myeloid leukemia, KIT exon 8 mutation, acute myeloid leukemia, GATA1 gene mutation, acute myeloid leukemia, RUNX1 gene mutation, acute myeloid leukemia, PTPN11 gene mutation, acute myeloid leukemia, NRAS gene mutation, acute myeloid leukemia, KRAS gene mutation, core binding factor acute myeloid leukemia, acute myeloid leukemia, t(8;21)(q22; q22.1), acute myeloid leukemia, t(1;22)(p13;q13), acute myeloid leukemia with CBFA2T3-GLIS2 fusion, acute myeloid leukemia with FUS-ERG fusion, acute myeloid leukemia with MNX1-ETV6 fusion, acute myeloid leukemia with NPM1-MLF1 fusion

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

No tiered GWAS variants or ClinVar records for this disease.

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 0.