Wilms tumor 2
diseaseOn this page
Also known as familial Wilms tumor 2familial Wilms tumour 2FWT2Wilms tumor 2, autosomal dominant, somatic mutationWilms tumor type 2Wilms tumour 2, autosomal dominant, somatic mutationWilms tumour type 2WT2
Summary
Wilms tumor 2 (MONDO:0008680) is a cancer with 2 cohort genes.
At a glance
- Classification: Cancer
- Cohort genes: 2
- ClinVar variants: 2
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | Wilms tumor 2 |
| Mondo ID | MONDO:0008680 |
| MeSH | C536853 |
| OMIM | 194071 |
| UMLS | C3887743 |
| MedGen | 854562 |
| GARD | 0008559 |
| Is cancer (heuristic) | yes |
Also known as: familial Wilms tumor 2 · familial Wilms tumour 2 · FWT2 · Wilms tumor 2 · Wilms tumor 2, autosomal dominant, somatic mutation · Wilms tumor type 2 · Wilms tumour 2, autosomal dominant, somatic mutation · Wilms tumour type 2 · WT2
Data availability: 2 ClinVar variants.
Disease family
Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › hereditary disease › hereditary Wilms tumor › Wilms tumor 2
Related subtypes (6): Wilms tumor 1, Wilms tumor 3, Wilms tumor 4, Wilms tumor 5, Wilms tumor 6, Wilms tumor 7
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
2 retrieved; paginated sample, class counts are floors:
2 pathogenic
| ClinVar | Variant (HGVS) | Gene | Classification | Review |
|---|---|---|---|---|
| 162493 | NR_002196.1(H19):n.-7080_-1781del | H19 | Pathogenic | no assertion criteria provided |
| 162494 | GRCh38/hg38 11p15.5(chr11:2000799-2001783)x3 | MRPL23 | Pathogenic | no assertion criteria provided |
Genes & proteins
Mendelian disease overlap and somatic drivers
GenCC: 0 · Orphanet: 6 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0
Orphanet rare-disease linkage (cohort genes)
| Gene | Orphanet ID | Rare disease |
|---|---|---|
| H19 | Orphanet:2128 | Isolated hemihyperplasia |
| H19 | Orphanet:231117 | Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 |
| H19 | Orphanet:231127 | Beckwith-Wiedemann syndrome due to 11p15 microdeletion |
| H19 | Orphanet:231140 | Silver-Russell syndrome due to an imprinting defect of 11p15 |
| H19 | Orphanet:231144 | Silver-Russell syndrome due to 11p15 microduplication |
| H19 | Orphanet:654 | Nephroblastoma |
Cohort genes → proteins
2 cohort genes, 1 distinct canonical proteins.
Evidence partition
| Subset | Genes |
|---|---|
| multi_evidence | 2 |
Cohort genes (full)
| Symbol | HGNC | Ensembl | UniProt | Name | Evidence |
|---|---|---|---|---|---|
| MRPL23 | HGNC:10322 | ENSG00000214026 | Q16540 | Large ribosomal subunit protein uL23m | clinvar |
| H19 | HGNC:4713 | ENSG00000130600 | H19 imprinted maternally expressed transcript | clinvar |
Protein-family classification
Druggable: 0 · Difficult: 0 · Unknown: 2 · 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 | 2 | 1.8× | 0.312 |
Per-gene assignment
| Symbol | Family | Druggable? | EC | InterPro (top 3) |
|---|---|---|---|---|
| MRPL23 | Other/Unknown | no | Nucleotide-bd_a/b_plait_sf, Ribosomal_uL23/eL15/eS24_sf, Ribosomal_uL23-like | |
| H19 | Other/Unknown | no |
Expression context
Cohort genes with no expression data: 0.
2 cohort genes 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) | 2 |
| unknown | 0 |
Top tissues across cohort
| Tissue | Cohort genes |
|---|---|
| apex of heart | 1 |
| olfactory segment of nasal mucosa | 1 |
| right uterine tube | 1 |
| adrenal tissue | 1 |
| hindlimb stylopod muscle | 1 |
| placenta | 1 |
Per-gene tissue summary (top 30)
| Symbol | Bgee breadth | FANTOM5 breadth | SCXA | Top tissues |
|---|---|---|---|---|
| MRPL23 | 134 | ubiquitous | marker | olfactory segment of nasal mucosa, apex of heart, right uterine tube |
| H19 | 134 | broad | marker | placenta, adrenal tissue, hindlimb stylopod muscle |
Protein interactions among cohort
Intra-cohort edges: 0.
Hub genes (top 10 by interactor count)
| Symbol | Interactor count |
|---|---|
| MRPL23 | 2,519 |
| H19 | 0 |
Structural data
PDB: 1 · AlphaFold-only: 0 · No structure: 1
Cohort genes with PDB structures (top 30)
| Symbol | UniProt | PDB entries |
|---|---|---|
| MRPL23 | Q16540 | 86 |
Function
Pathway analysis
Distinct Reactome pathways touched by cohort: 7. Enrichment computed across 2 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 |
|---|---|---|---|---|
| Mitochondrial translation | 1 | 137.6× | 0.013 | MRPL23 |
| Mitochondrial translation initiation | 1 | 126.9× | 0.013 | MRPL23 |
| Mitochondrial translation elongation | 1 | 126.9× | 0.013 | MRPL23 |
| Mitochondrial ribosome-associated quality control | 1 | 122.8× | 0.013 | MRPL23 |
| Mitochondrial translation termination | 1 | 109.8× | 0.013 | MRPL23 |
| Translation | 1 | 62.1× | 0.019 | MRPL23 |
| Metabolism of proteins | 1 | 12.4× | 0.081 | MRPL23 |
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 |
|---|---|---|---|---|
| mitochondrial translation | 1 | 173.7× | 0.010 | MRPL23 |
| translation | 1 | 102.8× | 0.010 | MRPL23 |
Therapeutics
Drug target analysis
Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 0 · Undrugged: 2
Druggability breadth: 0 of 2 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 |
|---|---|---|
| MRPL23 | 0 | 0 |
| H19 | 0 | 0 |
Bioactivity and enzyme data
Enzyme cohort genes (≥1 EC): 0.
Pharmacogenomics
Cohort genes with a PharmGKB record: 2; 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 | 2 | MRPL23, H19 |
Undrugged target profiles
2 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).
| Symbol | ChEMBL assays | Drugged partners (top 3) |
|---|---|---|
| MRPL23 | 0 | — |
| H19 | 0 | — |
Clinical trials & evidence
Clinical trials
Clinical trials: 0.