Mixed phenotype acute leukemia with t(v;11q23.3)

Summary

Mixed phenotype acute leukemia with t(v;11q23.3) (MONDO:0035642) is a cancer with 1 cohort gene (1 CIViC-evidence somatic driver; 1 ClinVar predisposition record).

At a glance

• Classification: Cancer
• Prevalence: Unknown (Worldwide) [Orphanet-validated]
• Cohort genes: 1
• ClinVar variants: 1

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	mixed phenotype acute leukemia with t(v;11q23.3)
Mondo ID	MONDO:0035642
Orphanet	589595
ICD-10-CM	C92.6
NCIT	C82203
UMLS	C2826048
MedGen	443130
GARD	0022357
Is cancer (heuristic)	yes

Also known as: MPAL with t(v;11q23.3); KMT2A rearranged · MPAL with t(v;11q23.3); MLL rearranged

Data availability: 1 ClinVar variant.

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 › inherited acute myeloid leukemia › mixed phenotype acute leukemia with t(v;11q23.3)

Related subtypes (2): acute promyelocytic leukemia, mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2)

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

1 retrieved; paginated sample, class counts are floors:

1 uncertain significance

ClinVar	Variant (HGVS)	Gene	Classification	Review
620630	NM_024426.6(WT1):c.950G>A (p.Gly317Glu)	WT1	Uncertain significance	criteria provided, multiple submitters, no conflicts

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 0 · Orphanet: 9 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

Somatic driver evidence (intOGen + CIViC, cohort fanout)

Gene	intOGen role	Cancer types	CIViC
WT1	LoF	AML,MEL,PAAD	CIViC #49

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
WT1	Orphanet:220	Denys-Drash syndrome
WT1	Orphanet:242	46,XY complete gonadal dysgenesis
WT1	Orphanet:251510	46,XY partial gonadal dysgenesis
WT1	Orphanet:3097	Meacham syndrome
WT1	Orphanet:347	Frasier syndrome
WT1	Orphanet:654	Nephroblastoma
WT1	Orphanet:656	Hereditary steroid-resistant nephrotic syndrome
WT1	Orphanet:83469	Desmoplastic small round cell tumor
WT1	Orphanet:893	WAGR syndrome

Cohort genes → proteins

1 cohort genes, 1 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	1

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
WT1	HGNC:12796	ENSG00000184937	P19544	Wilms tumor protein	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
WT1	Wilms tumor protein	Transcription factor that plays an important role in cellular development and cell survival.

Protein-family classification

Druggable: 0 · Difficult: 1 · Unknown: 0 · 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
Transcription factor	1	8.3×	0.121

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
WT1	Transcription factor	no		Wilms_tumour_N, Znf_C2H2_type, Znf_C2H2_sf

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
germinal epithelium of ovary	1
metanephric glomerulus	1
renal glomerulus	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
WT1	168	broad	marker	germinal epithelium of ovary, renal glomerulus, metanephric glomerulus

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
WT1	3,938

Structural data

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

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
WT1	P19544	28

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 3. Enrichment computed across 1 evidence-associated genes (1 with Reactome annotation).

Pathways by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
Nephron development	1	878.5×	0.002	WT1
Transcriptional regulation of testis differentiation	1	713.8×	0.002	WT1
Negative Regulation of CDH1 Gene Transcription	1	120.2×	0.008	WT1

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
negative regulation of metanephric glomerular mesangial cell proliferation	1	16852.0×	1e-03	WT1
regulation of animal organ formation	1	8426.0×	1e-03	WT1
adrenal cortex formation	1	8426.0×	1e-03	WT1
visceral serous pericardium development	1	8426.0×	1e-03	WT1
posterior mesonephric tubule development	1	8426.0×	1e-03	WT1
positive regulation of metanephric ureteric bud development	1	8426.0×	1e-03	WT1
positive regulation of heart growth	1	4213.0×	0.001	WT1
metanephric S-shaped body morphogenesis	1	4213.0×	0.001	WT1
negative regulation of female gonad development	1	4213.0×	0.001	WT1
thorax and anterior abdomen determination	1	3370.4×	0.001	WT1
cardiac muscle cell fate commitment	1	3370.4×	0.001	WT1
metanephric epithelium development	1	3370.4×	0.001	WT1
cellular response to gonadotropin stimulus	1	2808.7×	0.001	WT1
metanephric mesenchyme development	1	2407.4×	0.001	WT1
tissue development	1	1872.4×	0.002	WT1
diaphragm development	1	1872.4×	0.002	WT1
sex determination	1	1685.2×	0.002	WT1
positive regulation of male gonad development	1	1685.2×	0.002	WT1
glomerular basement membrane development	1	1532.0×	0.002	WT1
mesenchymal to epithelial transition	1	1532.0×	0.002	WT1
podocyte differentiation	1	1404.3×	0.002	WT1
glomerulus development	1	1296.3×	0.002	WT1
gonad development	1	1123.5×	0.002	WT1
negative regulation of gene expression via chromosomal CpG island methylation	1	1053.2×	0.002	WT1
male genitalia development	1	887.0×	0.002	WT1
adrenal gland development	1	674.1×	0.003	WT1
ureteric bud development	1	455.5×	0.004	WT1
germ cell development	1	455.5×	0.004	WT1
branching involved in ureteric bud morphogenesis	1	366.4×	0.005	WT1
camera-type eye development	1	358.6×	0.005	WT1

Therapeutics

Drug target analysis

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

Druggability breadth: 1 of 1 evidence-associated genes (100%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Top cohort targets by molecule count

Symbol	Molecules	Max phase
WT1	0	0

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

Pharmacogenomics

Cohort genes with a PharmGKB record: 1; 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	WT1

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)
WT1	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.