Exudative vitreoretinopathy 7

Summary

Exudative vitreoretinopathy 7 (MONDO:0033123) is a disease caused by CTNNB1 (GenCC Strong), with 1 cohort gene.

At a glance

• Causal gene: CTNNB1 (GenCC Strong)
• Cohort genes: 1
• ClinVar variants: 18

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	exudative vitreoretinopathy 7
Mondo ID	MONDO:0033123
OMIM	617572
DOID	DOID:0080264
UMLS	C4539767
MedGen	1626650
GARD	0016238
Is cancer (heuristic)	no

Also known as: EVR7 · exudative vitreoretinopathy 7

Data availability: 18 ClinVar variants · 2 GenCC gene-disease records.

Disease family

Classification path: disease › human disease › disease by body system or component › nervous system disorder › retinal disorder › retinal vascular disorder › exudative vitreoretinopathy › exudative vitreoretinopathy 7

Related subtypes (8): exudative vitreoretinopathy 2, X-linked, exudative vitreoretinopathy 3, exudative vitreoretinopathy 6, LRP5-related exudative vitreoretinopathy, TSPAN12-related exudative vitreoretinopathy, exudative vitreoretinopathy 8, dyneinopathy, FZD4-related exudative vitreoretinopathy

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

18 retrieved; paginated sample, class counts are floors:

6 pathogenic, 4 benign/likely benign, 4 uncertain significance, 3 likely pathogenic, 1 likely benign

ClinVar	Variant (HGVS)	Gene	Classification	Review
1029546	NM_001904.4(CTNNB1):c.1829_1832del (p.Ile610fs)	CTNNB1	Pathogenic	criteria provided, single submitter
225172	NM_001904.4(CTNNB1):c.2142_2157dup (p.His720Ter)	CTNNB1	Pathogenic	no assertion criteria provided
265085	NM_001904.4(CTNNB1):c.1603C>T (p.Arg535Ter)	CTNNB1	Pathogenic	criteria provided, multiple submitters, no conflicts
265443	NM_001904.4(CTNNB1):c.283C>T (p.Arg95Ter)	CTNNB1	Pathogenic	criteria provided, multiple submitters, no conflicts
39655	NM_001904.4(CTNNB1):c.1543C>T (p.Arg515Ter)	CTNNB1	Pathogenic	criteria provided, multiple submitters, no conflicts
559636	NM_001904.4(CTNNB1):c.1420C>T (p.Arg474Ter)	LOC126806659	Pathogenic	criteria provided, multiple submitters, no conflicts
17580	NM_001904.4(CTNNB1):c.121A>G (p.Thr41Ala)	CTNNB1	Likely pathogenic	criteria provided, multiple submitters, no conflicts
3384080	NM_001904.4(CTNNB1):c.1082-1G>A	CTNNB1	Likely pathogenic	criteria provided, single submitter
520788	NM_001904.4(CTNNB1):c.1139A>T (p.Asn380Ile)	CTNNB1	Likely pathogenic	criteria provided, single submitter
1403921	NM_001904.4(CTNNB1):c.1571A>G (p.His524Arg)	CTNNB1	Uncertain significance	criteria provided, multiple submitters, no conflicts
1806007	NM_001904.4(CTNNB1):c.2181T>G (p.Asp727Glu)	CTNNB1	Uncertain significance	criteria provided, single submitter
225171	NM_001904.4(CTNNB1):c.2128C>T (p.Arg710Cys)	CTNNB1	Uncertain significance	criteria provided, single submitter
2431676	NM_001904.4(CTNNB1):c.2140C>T (p.Pro714Ser)	CTNNB1	Uncertain significance	criteria provided, multiple submitters, no conflicts
128866	NM_001904.4(CTNNB1):c.14-4A>G	CTNNB1	Benign/Likely benign	criteria provided, multiple submitters, no conflicts
1599823	NM_001904.4(CTNNB1):c.1683+17A>G	CTNNB1	Benign/Likely benign	criteria provided, multiple submitters, no conflicts
210805	NM_001904.4(CTNNB1):c.2320C>T (p.Leu774=)	CTNNB1	Benign/Likely benign	criteria provided, multiple submitters, no conflicts
4819567	NM_001904.4(CTNNB1):c.672T>A (p.His224Gln)	CTNNB1	Likely benign	criteria provided, single submitter
731212	NM_001904.4(CTNNB1):c.1155C>A (p.Leu385=)	CTNNB1	Benign/Likely benign	criteria provided, multiple submitters, no conflicts

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 9 · Orphanet: 12 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

GenCC gene–disease validity (cohort genes)

the Disease column is the GenCC-asserted condition — a cohort gene’s strongest validity may be for a related predisposition syndrome.

Gene	Classification	Inheritance	Disease	Records
CTNNB1	Definitive	Autosomal dominant	exudative vitreoretinopathy	9

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
CTNNB1	Orphanet:1501	Adrenocortical carcinoma
CTNNB1	Orphanet:210159	Adult hepatocellular carcinoma
CTNNB1	Orphanet:2780	Osteopathia striata-cranial sclerosis syndrome
CTNNB1	Orphanet:33402	Pediatric hepatocellular carcinoma
CTNNB1	Orphanet:404473	Intellectual disability-eye abnormalities-microcephaly-peripheral spasticity syndrome
CTNNB1	Orphanet:54595	Craniopharyngioma
CTNNB1	Orphanet:569248	Microcystic stromal tumor
CTNNB1	Orphanet:689430	Adenoid ameloblastoma
CTNNB1	Orphanet:873	Desmoid tumor
CTNNB1	Orphanet:891	Familial exudative vitreoretinopathy
CTNNB1	Orphanet:91414	Pilomatrixoma
CTNNB1	Orphanet:952	Acrofacial dysostosis, Weyers type

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
CTNNB1	HGNC:2514	ENSG00000168036	P35222	Catenin beta-1	gencc,clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
CTNNB1	Catenin beta-1	Key downstream component of the canonical Wnt signaling pathway.

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)
CTNNB1	Other/Unknown	no		Armadillo, ARM-like, Beta-catenin

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
adrenal tissue	1
periodontal ligament	1
ventricular zone	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
CTNNB1	295	ubiquitous	marker	adrenal tissue, ventricular zone, periodontal ligament

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
CTNNB1	15,668

Structural data

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

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
CTNNB1	P35222	50

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 46. 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
LRR FLII-interacting protein 1 (LRRFIP1) activates type I IFN production	1	2284.0×	0.004	CTNNB1
CDH11 homotypic and heterotypic interactions	1	1631.4×	0.004	CTNNB1
Regulation of CDH19 Expression and Function	1	1427.5×	0.004	CTNNB1
InlA-mediated entry of Listeria monocytogenes into host cells	1	1268.9×	0.004	CTNNB1
Binding of TCF/LEF:CTNNB1 to target gene promoters	1	1142.0×	0.004	CTNNB1
RUNX3 regulates WNT signaling	1	1142.0×	0.004	CTNNB1
Apoptotic cleavage of cell adhesion proteins	1	1038.2×	0.004	CTNNB1
Regulation of CDH11 function	1	1038.2×	0.004	CTNNB1
Regulation of CDH1 Function	1	951.7×	0.004	CTNNB1
Formation of axial mesoderm	1	815.7×	0.004	CTNNB1
Signaling by GSK3beta mutants	1	761.3×	0.004	CTNNB1
CTNNB1 S33 mutants aren’t phosphorylated	1	761.3×	0.004	CTNNB1
CTNNB1 S37 mutants aren’t phosphorylated	1	761.3×	0.004	CTNNB1
CTNNB1 S45 mutants aren’t phosphorylated	1	761.3×	0.004	CTNNB1
CTNNB1 T41 mutants aren’t phosphorylated	1	761.3×	0.004	CTNNB1
Formation of definitive endoderm	1	713.8×	0.004	CTNNB1
Beta-catenin phosphorylation cascade	1	671.8×	0.004	CTNNB1
Germ layer formation at gastrulation	1	671.8×	0.004	CTNNB1
Formation of the nephric duct	1	634.4×	0.004	CTNNB1
Specification of the neural plate border	1	634.4×	0.004	CTNNB1
Regulation of MITF-M-dependent genes involved in cell cycle and proliferation	1	571.0×	0.004	CTNNB1
Synthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1)	1	519.1×	0.004	CTNNB1
SRC activates STAT3 in a quantitative manner, through Cadherin-11 (CDH11), RAC1 and gp130 (IL6ST)	1	496.5×	0.004	CTNNB1
Cardiogenesis	1	423.0×	0.004	CTNNB1
VEGFR2 mediated vascular permeability	1	407.9×	0.004	CTNNB1
Formation of paraxial mesoderm	1	407.9×	0.004	CTNNB1
Myogenesis	1	380.7×	0.004	CTNNB1
Disassembly of the destruction complex and recruitment of AXIN to the membrane	1	356.9×	0.005	CTNNB1
RHO GTPases activate IQGAPs	1	346.1×	0.005	CTNNB1
Regulation of CDH1 posttranslational processing and trafficking to plasma membrane	1	335.9×	0.005	CTNNB1

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
glial cell fate determination	1	16852.0×	0.001	CTNNB1
canonical Wnt signaling pathway involved in mesenchymal stem cell differentiation	1	16852.0×	0.001	CTNNB1
cranial ganglion development	1	16852.0×	0.001	CTNNB1
neural plate development	1	8426.0×	0.001	CTNNB1
negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis	1	8426.0×	0.001	CTNNB1
regulation of centriole-centriole cohesion	1	8426.0×	0.001	CTNNB1
negative regulation of mitotic cell cycle, embryonic	1	8426.0×	0.001	CTNNB1
regulation of timing of anagen	1	8426.0×	0.001	CTNNB1
positive regulation of branching involved in lung morphogenesis	1	8426.0×	0.001	CTNNB1
renal vesicle formation	1	8426.0×	0.001	CTNNB1
renal inner medulla development	1	8426.0×	0.001	CTNNB1
renal outer medulla development	1	8426.0×	0.001	CTNNB1
nephron tubule formation	1	8426.0×	0.001	CTNNB1
regulation of nephron tubule epithelial cell differentiation	1	8426.0×	0.001	CTNNB1
mesenchymal stem cell differentiation	1	8426.0×	0.001	CTNNB1
positive regulation of determination of dorsal identity	1	8426.0×	0.001	CTNNB1
astrocyte-dopaminergic neuron signaling	1	5617.3×	0.001	CTNNB1
regulation of fibroblast proliferation	1	5617.3×	0.001	CTNNB1
oviduct development	1	5617.3×	0.001	CTNNB1
lung induction	1	5617.3×	0.001	CTNNB1
positive regulation of epithelial cell proliferation involved in prostate gland development	1	5617.3×	0.001	CTNNB1
fungiform papilla formation	1	5617.3×	0.001	CTNNB1
regulation of centromeric sister chromatid cohesion	1	5617.3×	0.001	CTNNB1
regulation of secondary heart field cardioblast proliferation	1	4213.0×	0.001	CTNNB1
metanephros morphogenesis	1	4213.0×	0.001	CTNNB1
positive regulation of heparan sulfate proteoglycan biosynthetic process	1	4213.0×	0.001	CTNNB1
embryonic skeletal limb joint morphogenesis	1	4213.0×	0.001	CTNNB1
central nervous system vasculogenesis	1	3370.4×	0.001	CTNNB1
genitalia morphogenesis	1	3370.4×	0.001	CTNNB1
epithelial cell differentiation involved in prostate gland development	1	3370.4×	0.001	CTNNB1

Therapeutics

Drug target analysis

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

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

Genes with an approved drug

The molecule shown is one approved compound that hits the gene — not necessarily a drug of choice or one indicated for this disease.

Symbol	Example approved molecule
CTNNB1	DITHIAZANINE IODIDE

Top cohort targets by molecule count

Symbol	Molecules	Max phase
CTNNB1	4	4

Drugs targeting cohort genes (top 30)

Molecule	Max phase	Targets in cohort
DITHIAZANINE IODIDE	4	CTNNB1
QUERCETIN	3	CTNNB1
SALINOMYCIN	2	CTNNB1
DALOSIRVAT	2	CTNNB1

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

Cohort genes with ChEMBL bioactivity (full, sorted by assay count)

Symbol	Assays	Type breakdown
CTNNB1	361	Binding:358, Functional:3

Cohort genes with high screening signal

≥100 ChEMBL assays — a studied-ness signal; see Therapeutics for approved-drug status.

Symbol	ChEMBL assays
CTNNB1	361

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

4 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.

Compound	Max phase	Cohort target (bioactivity)
DITHIAZANINE IODIDE	4	CTNNB1
QUERCETIN	3	CTNNB1
SALINOMYCIN	2	CTNNB1
DALOSIRVAT	2	CTNNB1

Druggability pyramid

Cohort genes binned by druggability tier (high → low):

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	1	CTNNB1
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	0

Undrugged target profiles

0 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).

Clinical trials & evidence

Clinical trials

Clinical trials: 0.