Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome

Summary

Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome (MONDO:0012913) is a cancer with 1 cohort gene.

At a glance

• Classification: Cancer
• Cohort genes: 1
• ClinVar variants: 1

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome
Mondo ID	MONDO:0012913
MeSH	C567292
OMIM	612469
NCIT	C122804
UMLS	C2675904
MedGen	382718
GARD	0015559
Is cancer (heuristic)	yes

Also known as: WAGRO · Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome · Wilms tumor, aniridia, genitourinary anomalies, mental retardation, and obesity syndrome · Wilms tumor-aniridia-genitourinary anomalies-intellectual disability-obesity syndrome · Wilms tumor-aniridia-genitourinary anomalies-mental retardation-obesity syndrome

Data availability: 1 ClinVar variant.

Disease family

Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › hereditary disease › hereditary neoplastic syndrome › WAGR syndrome › Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome

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 pathogenic

ClinVar	Variant (HGVS)	Gene	Classification	Review
376759	GRCh37/hg19 11p15.1-13(chr11:21586131-33168232)x1	ANO3	Pathogenic	no assertion criteria provided

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 0 · Orphanet: 1 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
ANO3	Orphanet:420485	Cranio-cervical dystonia with laryngeal and upper-limb involvement

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
ANO3	HGNC:14004	ENSG00000134343	Q9BYT9	Anoctamin-3	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
ANO3	Anoctamin-3	Has calcium-dependent phospholipid scramblase activity; scrambles phosphatidylcholine and galactosylceramide.

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)
ANO3	Other/Unknown	no		Anoctamin, Anoct_dimer, Anoctamin_TM

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
corpus epididymis	1
lateral globus pallidus	1
putamen	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
ANO3	189	broad	marker	corpus epididymis, lateral globus pallidus, putamen

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
ANO3	1,078

Structural data

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

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
ANO3	Q9BYT9	76.30

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 10. 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
Induction of Cell-Cell Fusion	1	878.5×	0.011	ANO3
Late SARS-CoV-2 Infection Events	1	292.8×	0.017	ANO3
Stimuli-sensing channels	1	135.9×	0.025	ANO3
Ion channel transport	1	96.0×	0.025	ANO3
SARS-CoV-2 Infection	1	80.4×	0.025	ANO3
SARS-CoV Infections	1	55.4×	0.030	ANO3
Viral Infection Pathways	1	30.8×	0.045	ANO3
Transport of small molecules	1	25.1×	0.045	ANO3
Infectious disease	1	24.8×	0.045	ANO3
Disease	1	13.1×	0.076	ANO3

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
detection of temperature stimulus	1	5617.3×	6e-04	ANO3
calcium activated galactosylceramide scrambling	1	5617.3×	6e-04	ANO3
calcium activated phosphatidylcholine scrambling	1	3370.4×	7e-04	ANO3
detection of mechanical stimulus	1	1203.7×	0.001	ANO3
chloride transmembrane transport	1	237.3×	0.006	ANO3
monoatomic ion transmembrane transport	1	208.1×	0.006	ANO3
establishment of localization in cell	1	160.5×	0.006	ANO3

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
ANO3	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	ANO3

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)
ANO3	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.