Villous adenoma

disease

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Summary

Villous adenoma (MONDO:0000502) is a cancer (an umbrella term covering 6 Mondo subtypes) with 1 cohort gene (1 CIViC-evidence somatic driver).

At a glance

Classification: Cancer
Umbrella term: 6 Mondo subtypes
Cohort genes: 1

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	villous adenoma
Mondo ID	MONDO:0000502
MeSH	D018253
DOID	DOID:0050869
NCIT	C7399
UMLS	C0206674
MedGen	60206
Is cancer (heuristic)	yes

Disease family

An umbrella term covering 6 Mondo subtypes.

Classification path: disease › human disease › disease by etiologic mechanism › cancer or benign tumor › neoplastic disease or syndrome › neoplasm › epithelial neoplasm › adenoma › villous adenoma

Subtypes (6): urinary bladder villous adenoma, urethral villous adenoma, vaginal villous adenoma, duodenal villous adenoma, rectal villous adenoma, villous adenoma of colon

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

Mendelian disease overlap and somatic drivers

GenCC: 0 · Orphanet: 2 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

Somatic driver evidence (intOGen + CIViC, cohort fanout)

Gene	intOGen role	Cancer types	CIViC
MLH1			CIViC #3532

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
MLH1	Orphanet:144	Lynch syndrome
MLH1	Orphanet:252202	Constitutional mismatch repair deficiency syndrome

Cohort genes → proteins

1 cohort genes, 1 distinct canonical proteins.

Evidence partition

Subset	Genes
civic_only	1

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
MLH1	HGNC:7127	ENSG00000076242	P40692	DNA mismatch repair protein Mlh1	civic_evidence

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
MLH1	DNA mismatch repair protein Mlh1	Heterodimerizes with PMS2 to form MutL alpha, a component of the post-replicative DNA mismatch repair system (MMR).

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)
MLH1	Other/Unknown	no		MutL/Mlh/PMS, DNA_mismatch_S5_2-like, Ribsml_uS5_D2-typ_fold_subgr

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
deltoid	1
skeletal muscle tissue of rectus abdominis	1
tibialis anterior	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
MLH1	296	ubiquitous	marker	tibialis anterior, skeletal muscle tissue of rectus abdominis, deltoid

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
MLH1	4,435

Structural data

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

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
MLH1	P40692	7

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 18. 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
Defective Mismatch Repair Associated With MLH1	1	5710.0×	0.002	MLH1
Defective Mismatch Repair Associated With PMS2	1	5710.0×	0.002	MLH1
Mismatch Repair	1	2855.0×	0.002	MLH1
Diseases of Mismatch Repair (MMR)	1	2855.0×	0.002	MLH1
Mismatch repair (MMR) directed by MSH2:MSH6 (MutSalpha)	1	815.7×	0.004	MLH1
Mismatch repair (MMR) directed by MSH2:MSH3 (MutSbeta)	1	815.7×	0.004	MLH1
Diseases of DNA repair	1	571.0×	0.005	MLH1
Meiosis	1	285.5×	0.008	MLH1
Reproduction	1	190.3×	0.010	MLH1
TP53 Regulates Transcription of DNA Repair Genes	1	181.3×	0.010	MLH1
Meiotic recombination	1	129.8×	0.013	MLH1
DNA Repair	1	98.5×	0.015	MLH1
Transcriptional Regulation by TP53	1	62.1×	0.022	MLH1
Cell Cycle	1	36.0×	0.036	MLH1
RNA Polymerase II Transcription	1	22.5×	0.053	MLH1
Gene expression (Transcription)	1	17.8×	0.063	MLH1
Generic Transcription Pathway	1	15.1×	0.070	MLH1
Disease	1	13.1×	0.076	MLH1

GO biological processes by enrichment

GO term	Cohort genes	Fold	FDR	Sample cohort genes
meiotic metaphase I homologous chromosome alignment	1	16852.0×	8e-04	MLH1
meiotic spindle midzone assembly	1	8426.0×	8e-04	MLH1
male meiosis chromosome segregation	1	5617.3×	8e-04	MLH1
negative regulation of mitotic recombination	1	5617.3×	8e-04	MLH1
female meiosis chromosome segregation	1	4213.0×	9e-04	MLH1
positive regulation of isotype switching to IgA isotypes	1	2808.7×	0.001	MLH1
meiotic telomere clustering	1	1872.4×	0.001	MLH1
positive regulation of isotype switching to IgG isotypes	1	1532.0×	0.002	MLH1
somatic hypermutation of immunoglobulin genes	1	1053.2×	0.002	MLH1
resolution of meiotic recombination intermediates	1	936.2×	0.002	MLH1
isotype switching	1	842.6×	0.002	MLH1
nuclear-transcribed mRNA poly(A) tail shortening	1	802.5×	0.002	MLH1
mismatch repair	1	648.1×	0.002	MLH1
homologous chromosome pairing at meiosis	1	601.9×	0.002	MLH1
double-strand break repair via nonhomologous end joining	1	421.3×	0.003	MLH1
oogenesis	1	383.0×	0.003	MLH1
intrinsic apoptotic signaling pathway in response to DNA damage	1	324.1×	0.003	MLH1
response to bacterium	1	193.7×	0.005	MLH1
spermatogenesis	1	35.2×	0.028	MLH1

Therapeutics

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
MLH1	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	MLH1

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)
MLH1	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.

Cohort genes: MLH1