Cataract 34 multiple types

Summary

Cataract 34 multiple types (MONDO:0013067) is a disease with 2 cohort genes.

At a glance

• Cohort genes: 2
• ClinVar variants: 6

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	cataract 34 multiple types
Mondo ID	MONDO:0013067
MeSH	C567835
OMIM	612968
DOID	DOID:0110230
UMLS	C2751822
MedGen	442822
GARD	0015599
Is cancer (heuristic)	no

Also known as: cataract (disease) caused by mutation in FOXE3 · cataract 34, multiple types · CATC3 · CTRCT34 · FOXE3 cataract (disease)

Data availability: 6 ClinVar variants.

Disease family

Classification path: disease › human disease › disease by body system or component › disorder of orbital region › eye disorder › lens disorder › cataract › cataract 34 multiple types

Related subtypes (28): immature cataract, diabetic cataract, mature cataract, tetanic cataract, myotonic cataract, senile cataract, diabetes mellitus type 2 associated cataract, cataract 4 multiple types, cataract 29, cataract 1 multiple types, early-onset non-syndromic cataract, cataract 3 multiple types, cataract 9 multiple types, cataract 28, cataract 18, cataract 12 multiple types, cataract 36, bhaskar jagannathan syndrome, autosomal dominant cataract, craniostenosis cataract, Kozlowski Rafinski Klicharska syndrome, cataract 49, cataract 48, hypermature cataract, nuclear cataract, cortical cataract, cataract 2, multiple types, cataract 50 with or without glaucoma

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

6 retrieved; paginated sample, class counts are floors:

3 pathogenic, 1 benign, 1 uncertain significance, 1 conflicting classifications of pathogenicity

ClinVar	Variant (HGVS)	Gene	Classification	Review
1077109	NM_012186.3(FOXE3):c.959G>C (p.Ter320Ser)	FOXE3	Pathogenic	no assertion criteria provided
1077110	NM_012186.3(FOXE3):c.958T>C (p.Ter320Arg)	FOXE3	Pathogenic	no assertion criteria provided
372170	NM_012186.3(FOXE3):c.307G>A (p.Glu103Lys)	FOXE3	Pathogenic	no assertion criteria provided
667373	NM_012186.3(FOXE3):c.244A>G (p.Met82Val)	FOXE3	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
372169	NM_012186.3(FOXE3):c.351C>G (p.Asn117Lys)	LINC01389	Uncertain significance	criteria provided, single submitter
193357	NM_012186.3(FOXE3):c.510C>T (p.Ala170=)	FOXE3	Benign	criteria provided, multiple submitters, no conflicts

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 0 · Orphanet: 3 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
FOXE3	Orphanet:708	Peters anomaly
FOXE3	Orphanet:83461	Congenital primary aphakia
FOXE3	Orphanet:91387	Familial thoracic aortic aneurysm and aortic dissection

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
FOXE3	HGNC:3808	ENSG00000186790	Q13461	Forkhead box protein E3	clinvar
LINC01389	HGNC:50661	ENSG00000225762		long intergenic non-protein coding RNA 1389	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
FOXE3	Forkhead box protein E3	Transcription factor that controls lens epithelial cell growth through regulation of proliferation, apoptosis and cell cycle.

Protein-family classification

Druggable: 0 · Difficult: 1 · 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
Transcription factor	1	4.1×	0.455
Other/Unknown	1	0.9×	0.805

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
FOXE3	Transcription factor	no		Fork_head_dom, TF_fork_head_CS_1, TF_fork_head_CS_2
LINC01389	Other/Unknown	no

Expression context

Cohort genes with no expression data: 0.

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
male germ line stem cell (sensu Vertebrata) in testis	2
mucosa of transverse colon	2
primordial germ cell in gonad	2

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
FOXE3	36	tissue_specific	yes	primordial germ cell in gonad, male germ line stem cell (sensu Vertebrata) in testis, mucosa of transverse colon
LINC01389	130	broad	yes	primordial germ cell in gonad, male germ line stem cell (sensu Vertebrata) in testis, mucosa of transverse colon

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
FOXE3	1,003
LINC01389	0

Structural data

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

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
FOXE3	Q13461	66.68

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 0. Enrichment computed across 2 evidence-associated genes (0 with Reactome annotation).

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
trabecular meshwork development	1	8426.0×	0.001	FOXE3
positive regulation of lens epithelial cell proliferation	1	8426.0×	0.001	FOXE3
ciliary body morphogenesis	1	4213.0×	0.001	FOXE3
negative regulation of lens fiber cell differentiation	1	2808.7×	0.002	FOXE3
iris morphogenesis	1	1872.4×	0.002	FOXE3
cornea development in camera-type eye	1	1296.3×	0.002	FOXE3
cell development	1	887.0×	0.003	FOXE3
lens development in camera-type eye	1	374.5×	0.005	FOXE3
eye development	1	351.1×	0.005	FOXE3
mRNA transcription by RNA polymerase II	1	330.4×	0.005	FOXE3
epithelial cell proliferation	1	312.1×	0.005	FOXE3
anatomical structure morphogenesis	1	139.3×	0.010	FOXE3
regulation of cell cycle	1	74.6×	0.017	FOXE3
transcription by RNA polymerase II	1	70.5×	0.017	FOXE3
negative regulation of apoptotic process	1	34.8×	0.033	FOXE3
cell differentiation	1	29.1×	0.037	FOXE3
regulation of transcription by RNA polymerase II	1	11.7×	0.086	FOXE3

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
FOXE3	0	0
LINC01389	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	2	FOXE3, LINC01389

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)
FOXE3	0	—
LINC01389	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.