Acute myeloblastic leukemia with maturation

Summary

Acute myeloblastic leukemia with maturation (MONDO:0020320) is a cancer with 1 cohort gene and 1 clinical trial.

At a glance

• Classification: Cancer
• Prevalence: <1 / 1 000 000 (Europe) [Orphanet-validated]
• Cohort genes: 1
• ClinVar variants: 5
• Clinical trials: 1

Clinical features

Epidemiology

Prevalence records

1 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Annual incidence	<1 / 1 000 000	0.02	Europe	Validated

Identifiers

Disease identifiers

Field	Value
Canonical name	acute myeloblastic leukemia with maturation
Mondo ID	MONDO:0020320
EFO	EFO:0003028
Orphanet	98834
DOID	DOID:0081087
NCIT	C3250
UMLS	C1879321
MedGen	361829
GARD	0000527
Is cancer (heuristic)	yes

Also known as: acute M2 myeloid leukaemia · acute M2 myeloid leukemia · acute myeloblastic leukaemia M2 · acute myeloblastic leukaemia type 2 · acute myeloblastic leukemia M2 · acute myeloblastic leukemia type 2 · acute myelocytic leukaemia with maturation · acute myelocytic leukemia with maturation · acute myelogenous leukaemia with maturation · acute myelogenous leukemia with maturation · acute myeloid leukaemia (AML-M2) · acute myeloid leukaemia with maturation · acute myeloid leukemia (AML-M2) · acute myeloid leukemia with maturation · AM · AML M2 · AML with maturation · FAB M2 · LAM M2 · M2 acute granulocytic leukaemia (+15 more)

Data availability: 5 ClinVar variants · 79 cell lines.

Disease family

Classification path: 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 by FAB classification › acute myeloblastic leukemia with maturation

Related subtypes (8): acute myeloid leukemia with minimal differentiation, acute myeloblastic leukemia without maturation, myeloid sarcoma, acute erythroid leukemia, acute myelomonocytic leukemia M4, acute megakaryoblastic leukemia, acute panmyelosis with myelofibrosis, acute basophilic leukemia

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

ClinVar germline variants

5 retrieved; paginated sample, class counts are floors:

5 benign

ClinVar	Variant (HGVS)	Gene	Classification	Review
427752	NC_000001.11:g.198807802C>A	LOC126805969	Benign	criteria provided, multiple submitters, no conflicts
427753	NC_000001.11:g.198826991C>T	MIR181A1HG	Benign	criteria provided, multiple submitters, no conflicts
427754	NC_000001.11:g.198898549G>T	MIR181A1HG	Benign	criteria provided, multiple submitters, no conflicts
427755	NC_000001.11:g.198898955G>A	MIR181A1HG	Benign	criteria provided, multiple submitters, no conflicts
427756	NC_000001.11:g.198900385T>C	MIR181A1HG	Benign	criteria provided, multiple submitters, no conflicts

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 0 · Orphanet: 0 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

Cohort genes → proteins

1 cohort genes, 0 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	1

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
MIR181A1HG	HGNC:48659	ENSG00000229989		MIR181A1 host gene	clinvar

Protein-family classification

Druggable: 0 · Difficult: 0 · Unknown: 1 · Druggable fraction: 0.0

Family distribution

Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.

Family	Genes	Fold	FDR
Other/Unknown	1	1.8×	0.558

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
MIR181A1HG	Other/Unknown	no

Expression context

Cohort genes with no expression data: 0.

1 cohort gene are a single-cell marker in ≥1 SCXA experiment.

Breadth distribution (Bgee present_calls)

Bucket	Genes
narrow (1-5 tissues)	0
moderate (6-20)	0
broad (>20)	1
unknown	0

Top tissues across cohort

Tissue	Cohort genes
bone marrow cell	1
corpus callosum	1
male germ line stem cell (sensu Vertebrata) in testis	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
MIR181A1HG	121	ubiquitous	marker	corpus callosum, bone marrow cell, male germ line stem cell (sensu Vertebrata) in testis

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
MIR181A1HG	0

Structural data

PDB: 0 · AlphaFold-only: 0 · No structure: 1

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 0. Enrichment computed across 1 evidence-associated genes (0 with Reactome annotation).

Therapeutics

Drugs indicated for this disease

1 approved, 3 in late-stage (phase 3) trials. Disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.

Drug	Development status
Cytarabine	Approved (phase 4)
Etoposide	Phase 3 (in late-stage trials)
Tipifarnib	Phase 3 (in late-stage trials)
Valspodar	Phase 3 (in late-stage trials)

Drug target analysis

Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 0 · Undrugged: 1

Druggability breadth: 0 of 1 evidence-associated genes (0%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Top cohort targets by molecule count

Symbol	Molecules	Max phase
MIR181A1HG	0	0

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

Pharmacogenomics

Cohort genes with a PharmGKB record: 0; with CPIC/DPWG dosing guidelines: 0.

No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).

Drug repurposing candidates

0 approved/phased drugs hit cohort targets but don’t yet appear in disease-level clinical trials. Target-inhibition rationale is strongest for cancer driver genes; a bioactivity hit is a screening signal, not a treatment claim.

Druggability pyramid

Cohort genes binned by druggability tier (high → low):

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	0
B	Phased (≥1) drug, not yet approved	0
C	Druggable family + PDB, no drug	0
D	Druggable family + AlphaFold only, no drug	0
E	Difficult family or no structure, no drug	1	MIR181A1HG

Undrugged target profiles

1 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).

Symbol	ChEMBL assays	Drugged partners (top 3)
MIR181A1HG	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 1.

Phase distribution (across all retrieved trials)

Phase	Trials
PHASE1/PHASE2	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT02944162	PHASE1/PHASE2	UNKNOWN	CAR-pNK Cell Immunotherapy for Relapsed/Refractory CD33+ AML