Beckwith-Wiedemann syndrome due to 11p15 microdeletion

Summary

Beckwith-Wiedemann syndrome due to 11p15 microdeletion (MONDO:0016477) is a disease with 1 cohort gene.

At a glance

• Cohort genes: 1
• ClinVar variants: 1

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	Beckwith-Wiedemann syndrome due to 11p15 microdeletion
Mondo ID	MONDO:0016477
Orphanet	231127
UMLS	C5680919
MedGen	1826104
GARD	0020601
Is cancer (heuristic)	no

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 › Beckwith-Wiedemann syndrome › Beckwith-Wiedemann syndrome due to 11p15 microdeletion

Related subtypes (7): Beckwith-Wiedemann syndrome due to imprinting defect of 11p15, Beckwith-Wiedemann syndrome due to CDKN1C mutation, Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion, Beckwith-Wiedemann syndrome due to NSD1 mutation, Beckwith-Wiedemann syndrome due to 11p15 microduplication, Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11, Franceschini Vardeu Guala 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
2574690	GRCh37/hg19 11p15.5(chr11:268586-748873)	ANO9	Pathogenic	no assertion criteria provided

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, 1 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	1

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
ANO9	HGNC:20679	ENSG00000185101	A1A5B4	Anoctamin-9	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
ANO9	Anoctamin-9	PKA-activated nonselective cation channel.

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)
ANO9	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
mucosa of transverse colon	1
skin of abdomen	1
upper arm skin	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
ANO9	184	broad	marker	mucosa of transverse colon, upper arm skin, skin of abdomen

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
ANO9	496

Structural data

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

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
ANO9	A1A5B4	80.99

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	ANO9
Late SARS-CoV-2 Infection Events	1	292.8×	0.017	ANO9
Stimuli-sensing channels	1	135.9×	0.025	ANO9
Ion channel transport	1	96.0×	0.025	ANO9
SARS-CoV-2 Infection	1	80.4×	0.025	ANO9
SARS-CoV Infections	1	55.4×	0.030	ANO9
Viral Infection Pathways	1	30.8×	0.045	ANO9
Transport of small molecules	1	25.1×	0.045	ANO9
Infectious disease	1	24.8×	0.045	ANO9
Disease	1	13.1×	0.076	ANO9

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
calcium activated galactosylceramide scrambling	1	5617.3×	8e-04	ANO9
calcium activated phosphatidylserine scrambling	1	4213.0×	8e-04	ANO9
calcium activated phosphatidylcholine scrambling	1	3370.4×	8e-04	ANO9
chloride transmembrane transport	1	237.3×	0.007	ANO9
monoatomic ion transmembrane transport	1	208.1×	0.007	ANO9
establishment of localization in cell	1	160.5×	0.007	ANO9
sensory perception of smell	1	156.0×	0.007	ANO9
lipid metabolic process	1	91.6×	0.011	ANO9

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
ANO9	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).

Chemical tractability of cohort targets

0 approved/phased compounds have measured bioactivity against a cohort gene (and aren’t yet in disease-level trials). This is a research / tractability signal, NOT a therapeutic recommendation — a bioactivity row often reflects off-target or screening binding (e.g. promiscuous kinase inhibitors against a cohort kinase), implying no disease mechanism.

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	ANO9

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)
ANO9	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.