Cataract 19 multiple types

Summary

Cataract 19 multiple types (MONDO:0014111) is a disease caused by LIM2 (GenCC Definitive), with 1 cohort gene.

At a glance

• Causal gene: LIM2 (GenCC Definitive)
• Cohort genes: 1
• ClinVar variants: 67

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	cataract 19 multiple types
Mondo ID	MONDO:0014111
OMIM	615277
DOID	DOID:0110263
UMLS	C3809004
MedGen	815334
GARD	0024972
Is cancer (heuristic)	no

Also known as: cataract 19 · cataract type 19 · CTRCT19 · early-onset non-syndromic cataract caused by mutation in LIM2 · LIM2 early-onset non-syndromic cataract

Data availability: 67 ClinVar variants · 5 GenCC gene-disease records.

Disease family

Classification path: disease › human disease › disease by body system or component › disorder of orbital region › eye disorder › lens disorder › cataract › early-onset non-syndromic cataract › cataract 19 multiple types

Related subtypes (28): cataract 32 multiple types, cataract 8 multiple types, cataract 42, cataract 20 multiple types, cataract 6 multiple types, cataract 13 with adult I phenotype, cataract 5 multiple types, cataract 46 juvenile-onset, cataract 40, cataract 10 multiple types, cataract 14 multiple types, pulverulent cataract, cataract 31 multiple types, cataract 26 multiple types, cataract 22 multiple types, cataract 21 multiple types, cataract 23, cataract 11 multiple types, cataract 33, cataract 17 multiple types, cataract 38, cataract 39 multiple types, cataract 15 multiple types, cataract 43, cataract 44, cataract 45, early-onset partial cataract, total early-onset cataract

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

67 retrieved; paginated sample, class counts are floors:

45 uncertain significance, 10 likely benign, 7 conflicting classifications of pathogenicity, 2 pathogenic, 1 benign, 1 pathogenic/likely pathogenic, 1 benign/likely benign

ClinVar	Variant (HGVS)	Gene	Classification	Review
14356	NM_001161748.2(LIM2):c.313T>G (p.Phe105Val)	LIM2	Pathogenic	no assertion criteria provided
224327	NM_001161748.2(LIM2):c.461G>A (p.Gly154Glu)	LIM2	Pathogenic	no assertion criteria provided
625113	NM_001161748.2(LIM2):c.388C>T (p.Arg130Cys)	LIM2	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
2739858	NM_001161748.2(LIM2):c.487G>A (p.Val163Met)	LIM2	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
329971	NM_001161748.2(LIM2):c.337G>A (p.Val113Met)	LIM2	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
329974	NM_001161748.2(LIM2):c.231C>T (p.Ser77=)	LIM2	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
541269	NM_001161748.2(LIM2):c.57G>A (p.Leu19=)	LIM2	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
703338	NM_001161748.2(LIM2):c.175+50G>A	LIM2	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
894050	NM_001161748.2(LIM2):c.337G>C (p.Val113Leu)	LIM2	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
894449	NM_001161748.2(LIM2):c.175+77T>C	LIM2	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1015882	NM_001161748.2(LIM2):c.321del (p.Ser108fs)	LIM2	Uncertain significance	criteria provided, single submitter
1029169	NM_001161748.2(LIM2):c.484C>T (p.Arg162Trp)	LIM2	Uncertain significance	criteria provided, multiple submitters, no conflicts
1050919	NM_001161748.2(LIM2):c.175+87A>G	LIM2	Uncertain significance	criteria provided, single submitter
1345456	NM_001161748.2(LIM2):c.281G>A (p.Arg94His)	LIM2	Uncertain significance	criteria provided, multiple submitters, no conflicts
1430326	NM_001161748.2(LIM2):c.502C>T (p.Arg168Cys)	LIM2	Uncertain significance	criteria provided, multiple submitters, no conflicts
1514417	NM_001161748.2(LIM2):c.175+46G>A	LIM2	Uncertain significance	criteria provided, single submitter
2174715	NM_001161748.2(LIM2):c.356A>G (p.Tyr119Cys)	LIM2	Uncertain significance	criteria provided, multiple submitters, no conflicts
2459542	NM_001161748.2(LIM2):c.130C>T (p.Arg44Trp)	LIM2	Uncertain significance	criteria provided, multiple submitters, no conflicts
2516804	NM_001161748.2(LIM2):c.440T>C (p.Val147Ala)	LIM2	Uncertain significance	criteria provided, multiple submitters, no conflicts
2579304	NM_001161748.2(LIM2):c.385C>T (p.Arg129Cys)	LIM2	Uncertain significance	criteria provided, multiple submitters, no conflicts
329970	NM_001161748.2(LIM2):c.*218C>G	LIM2	Uncertain significance	criteria provided, single submitter
329972	NM_001161748.2(LIM2):c.334G>A (p.Val112Ile)	LIM2	Uncertain significance	criteria provided, multiple submitters, no conflicts
329973	NM_001161748.2(LIM2):c.248T>C (p.Ile83Thr)	LIM2	Uncertain significance	criteria provided, multiple submitters, no conflicts
329975	NM_001161748.2(LIM2):c.175+28G>A	LIM2	Uncertain significance	criteria provided, multiple submitters, no conflicts
329976	NM_001161748.2(LIM2):c.131G>A (p.Arg44Gln)	LIM2	Uncertain significance	criteria provided, multiple submitters, no conflicts
329977	NM_001161748.2(LIM2):c.108C>T (p.Ser36=)	LIM2	Uncertain significance	criteria provided, single submitter
329978	NM_001161748.2(LIM2):c.40G>A (p.Val14Met)	LIM2	Uncertain significance	criteria provided, multiple submitters, no conflicts
329979	NM_001161748.2(LIM2):c.-7+14G>A	LIM2	Uncertain significance	criteria provided, single submitter
329981	NM_001161748.2(LIM2):c.-29C>G	LIM2	Uncertain significance	criteria provided, single submitter
329982	NM_001161748.2(LIM2):c.-41G>A	LIM2	Uncertain significance	criteria provided, single submitter

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 6 · Orphanet: 1 · 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
LIM2	Definitive	Autosomal recessive	cataract 19 multiple types	6

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
LIM2	Orphanet:98994	Total early-onset cataract

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
LIM2	HGNC:6610	ENSG00000105370	P55344	Lens fiber membrane intrinsic protein	gencc,clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
LIM2	Lens fiber membrane intrinsic protein	Present in the thicker 16-17 nm junctions of mammalian lens fiber cells, where it may contribute to cell junctional organization.

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)
LIM2	Other/Unknown	no		LMIP, PMP22/EMP/MP20/Claudin, PMP22_EMP_MP20

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
granulocyte	1
lens of camera-type eye	1
primordial germ cell in gonad	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
LIM2	26	tissue_specific	marker	primordial germ cell in gonad, lens of camera-type eye, granulocyte

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
LIM2	1,593

Structural data

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

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
LIM2	P55344	1

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 0. Enrichment computed across 1 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
cell-cell junction assembly	1	443.5×	0.003	LIM2
lens development in camera-type eye	1	374.5×	0.003	LIM2

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
LIM2	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	LIM2

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)
LIM2	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.