Myeloid leukemia associated with down syndrome

Summary

Myeloid leukemia associated with down syndrome (MONDO:0850271) is a cancer and 4 clinical trials. Top therapeutic interventions include asparaginase, asparaginase erwinia chrysanthemi, and daunorubicin hydrochloride. A subtype of acute megakaryoblastic leukemia — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Classification: Cancer
• Clinical trials: 4

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	myeloid leukemia associated with down syndrome
Mondo ID	MONDO:0850271
DOID	DOID:0080798
NCIT	C43223
UMLS	C2825149
MedGen	416725
GARD	0026597
Is cancer (heuristic)	yes

Data availability: 14 cell lines.

Disease family

This is a subtype of acute megakaryoblastic 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: 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 by FAB classification › acute megakaryoblastic leukemia › myeloid leukemia associated with down syndrome

Related subtypes (4): acute megakaryoblastic leukemia without down syndrome, acute megakaryoblastic leukemia in down syndrome, childhood acute megakaryoblastic leukemia, acute megakaryoblastic leukemia in adult

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: 4.

Phase distribution (across all retrieved trials)

Phase	Trials
PHASE3	1
PHASE1/PHASE2	1
PHASE1	1
Not specified	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT02521493	PHASE3	ACTIVE_NOT_RECRUITING	Response-Based Chemotherapy in Treating Newly Diagnosed Acute Myeloid Leukemia or Myelodysplastic Syndrome in Younger Patients With Down Syndrome
NCT04726241	PHASE1/PHASE2	RECRUITING	The Pediatric Acute Leukemia (PedAL) Screening Trial - A Study to Test Bone Marrow and Blood in Children With Leukemia That Has Come Back After Treatment or Is Difficult to Treat - A Leukemia & Lymphoma Society and Children’s Oncology Group Study
NCT05146739	PHASE1	ACTIVE_NOT_RECRUITING	Highest Dose of Uproleselan in Combination With Fludarabine and Cytarabine for Patients With Acute Myeloid Leukemia, Myelodysplastic Syndrome, or Mixed Phenotype Acute Leukemia Relapsed or Refractory That Expresses E-selectin Ligand on the Cell Membrane
NCT05702645	Not specified	RECRUITING	A Study to Learn More About the Health of Persons With Down Syndrome After Treatment for Acute Leukemia

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
ASPARAGINASE	4	1
ASPARAGINASE ERWINIA CHRYSANTHEMI	4	1
DAUNORUBICIN HYDROCHLORIDE	4	1
MITOXANTRONE HYDROCHLORIDE	4	1
THIOGUANINE	4	1
UPROLESELAN	3	1