Lens disorder

Summary

Lens disorder (MONDO:0001176) is a disease (an umbrella term covering 10 Mondo subtypes) with 69 GWAS associations across 17 studies. A subtype of eye disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Umbrella term: 10 Mondo subtypes
• GWAS associations: 69

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	lens disorder
Mondo ID	MONDO:0001176
EFO	EFO:0009674
MeSH	D007905
DOID	DOID:110
ICD-10-CM	H25-H28
NCIT	C26812
SNOMED CT	10810001
UMLS	C0549651
MedGen	892382
Anatomy (UBERON)	UBERON:0000965
Is cancer (heuristic)	no

Also known as: disease of lens of camera-type eye · disease or disorder of lens of camera-type eye · disorder of lens of camera-type eye · lens disorder · lens of camera-type eye disease · lens of camera-type eye disease or disorder

Data availability: 69 GWAS associations (17 studies).

Disease family

This is a subtype of eye disorder. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

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

Related subtypes (119): ptosis, eye accommodation disease, corneal disorder, asthenopia, keratomalacia, scleral disorder, ocular siderosis, coloboma, luxation of globe, mucopolysaccharidosis type 1, lacrimal apparatus disorder, Foster-Kennedy syndrome, anterior dislocation of lens, uveal disorder, eyelid disorder, ocular hypotension, scotoma, exophthalmos, ophthalmia nodosa, eye degenerative disorder, refractive error, glaucoma, retinal disorder, eye allergy, ocular vascular disorder, optic neuritis, conjunctival disorder, ocular hypertension, Tietz syndrome, Alagille syndrome, glaucoma-sleep apnea syndrome, Marshall syndrome, microcornea-glaucoma-absent frontal sinuses syndrome, nail-patella syndrome, oculodentodigital dysplasia, piebaldism, Sturge-Weber syndrome, cerebrotendinous xanthomatosis, ocular cystinosis, alpha-mannosidosis, megalocornea-intellectual disability syndrome, mucolipidosis type IV, mucopolysaccharidosis type 6, Netherton syndrome, galactosialidosis, Niemann-Pick disease type A, ocular motor apraxia, Cogan type, Peters plus syndrome, isolated Pierre-Robin syndrome, ectodermal dysplasia-blindness syndrome, Sandhoff disease, SHORT syndrome, Sjogren-Larsson syndrome, Smith-Lemli-Opitz syndrome, Tay-Sachs disease, tyrosinemia type II, Ito hypomelanosis, X-linked cone dysfunction syndrome with myopia, red color blindness, oculocerebrorenal syndrome, Lowry-MacLean syndrome, pigment dispersion syndrome, hereditary hyperferritinemia with congenital cataracts, dyssegmental dysplasia-glaucoma syndrome, mevalonic aciduria, familial cavitary optic disk anomaly, blindness - scoliosis - arachnodactyly syndrome, fatty acyl-CoA reductase 1 deficiency, microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome, neurotrophic keratopathy, Cogan syndrome, atopic keratoconjunctivitis, rhizomelic chondrodysplasia punctata, Ehlers-Danlos syndrome, kyphoscoliotic type 1, IRVAN syndrome, Rothmund-Thomson syndrome type 2, microcornea-corectopia-macular hypoplasia syndrome, isolated anophthalmia-microphthalmia syndrome, Spasmus nutans, toxic maculopathy due to antimalarial drugs, syndromic recessive X-linked ichthyosis, acute zonal occult outer retinopathy, acute annular outer retinopathy, phakomatosis pigmentovascularis, lamellar ichthyosis, idiopathic linear interstitial keratitis, chondroectodermal dysplasia with night blindness, galactosemia, GM1 gangliosidosis, Gaucher disease, visual snow syndrome, extensive peripapillary myelinated nerve fibers, IgG4-related ophthalmic disorder, global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome, vernal keratoconjunctivitis, Gardner syndrome, anterior segment dysgenesis, isolated ankyloblepharon filiforme adnatum, hereditary optic neuropathy, essential strabismus, Axenfeld anomaly, eye neoplasm, isolated blepharochalasis, punctate inner choroidopathy, eye infectious disorder, vitreous body disorder, 9q33.3q34.11 microdeletion syndrome, autoimmune/inflammatory optic neuropathy, LTBP2-related ocular dysgenesis, ocular growth disorder, ocular dysgenesis caused by defects in PAX6 regulation, choroidal neovascularization, anterior segment developmental abnormality with extraocular manifestations, congenital optic disk excavation, neuroocular syndrome, isolated angioid streaks, multiple evanescent white dot syndrome, stellate multiform amelanotic choroidopathy, macular telangiectasia

Subtypes (10): lens subluxation, posterior dislocation of lens, cataract, blepharoptosis-myopia-ectopia lentis syndrome, classic homocystinuria, facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome, congenital primary aphakia, ectopia lentis-chorioretinal dystrophy-myopia syndrome, isolated ectopia lentis, encephalopathy due to sulfite oxidase deficiency

Genetics & variants

GWAS landscape

69 GWAS associations across 17 studies. Top hits map to 0 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
chr4:173984049	3e-52		T	1.15
chr20:19476624	1e-47		G	0.12
chr11:69174402	9e-34		T	0.12
chr7:46174655	3e-28		G	0.07
chr9:22206988	5e-26		T	0.06
chr3:181629149	3e-24		T	0.06
chr11:187382	2e-23		T	0.09
chr15:28288419	1e-22		C	0.07
chr17:81582224	4e-22		A	0.06
chr7:127375029	2e-21		A	0.2
chr10:113725526	3e-20		C	0.48
chr16:7410698	9e-20		G	0.06
chr1:226984589	3e-18		T	0.05
chr12:30741905	3e-16		G	0.1
chr6:163415053	1e-15		C	0.07
chr2:142799432	4e-15		C	0.06
chr10:122444271	5e-15		C	0.06
chr2:12750734	1e-14		C	0.05
chr3:63962779	6e-14		C	0.07
chr17:83107253	1e-13		A	0.05
chr1:169071933	1e-13		C	0.05
chr20:10669037	1e-13		AAAT	0.06
chr16:69867203	3e-13		A	0.04
chr17:137198	5e-13		C	0.1
chr7:11638213	5e-13		G	0.04
chr3:133448489	7e-13		C	1.97
chr17:77498983	1e-12		C	0.04
chr1:156532386	2e-12		C	0.05
chr1:51003856	3e-12		AT	0.04
chr1:10763816	2e-11		C	0.05

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90473408	UK Biobank Whole-Genome Sequencing Consortium	2025	68,641	389,799	Whole-genome sequencing of 490,640 UK Biobank participants.
GCST90667765	UK Biobank Whole-Genome Sequencing Consortium	2025	68,641	389,799	Whole-genome sequencing of 490,640 UK Biobank participants.
GCST90477784	Verma A	2024	7,424	433,881	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90473409	UK Biobank Whole-Genome Sequencing Consortium	2025	2,280	7,333	Whole-genome sequencing of 490,640 UK Biobank participants.
GCST90043807	Jiang L	2021	1,859	454,489	A generalized linear mixed model association tool for biobank-scale data.
GCST90436024	Zhou W	2018	1,825	401,245	Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies.
GCST90473405	UK Biobank Whole-Genome Sequencing Consortium	2025	1,553	7,662	Whole-genome sequencing of 490,640 UK Biobank participants.
GCST90477783	Verma A	2024	1,365	119,118	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90481128	Verma A	2024	1,365	119,118	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90477782	Verma A	2024	869	58,064	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

Tier	Variants
Tier 1: coding	0
Tier 2: splice/UTR	0
Tier 3: regulatory	0
Tier 4: intronic/intergenic	50

MAF distribution

Bucket	Variants
common (>=0.05)	0
low_freq (0.01-0.05)	0
rare (<0.01)	0
unknown	50

Functional consequences

Consequence	Count
unknown	50

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
chr4:173984049							3e-52	Tier 4: intronic/intergenic
chr20:19476624							1e-47	Tier 4: intronic/intergenic
chr11:69174402							9e-34	Tier 4: intronic/intergenic
chr7:46174655							3e-28	Tier 4: intronic/intergenic
chr9:22206988							5e-26	Tier 4: intronic/intergenic
chr3:181629149							3e-24	Tier 4: intronic/intergenic
chr11:187382							2e-23	Tier 4: intronic/intergenic
chr15:28288419							1e-22	Tier 4: intronic/intergenic
chr17:81582224							4e-22	Tier 4: intronic/intergenic
chr7:127375029							2e-21	Tier 4: intronic/intergenic
chr10:113725526							3e-20	Tier 4: intronic/intergenic
chr16:7410698							9e-20	Tier 4: intronic/intergenic
chr1:226984589							3e-18	Tier 4: intronic/intergenic
chr12:30741905							3e-16	Tier 4: intronic/intergenic
chr6:163415053							1e-15	Tier 4: intronic/intergenic
chr2:142799432							4e-15	Tier 4: intronic/intergenic
chr10:122444271							5e-15	Tier 4: intronic/intergenic
chr2:12750734							1e-14	Tier 4: intronic/intergenic
chr3:63962779							6e-14	Tier 4: intronic/intergenic
chr17:83107253							1e-13	Tier 4: intronic/intergenic
chr1:169071933							1e-13	Tier 4: intronic/intergenic
chr20:10669037							1e-13	Tier 4: intronic/intergenic
chr16:69867203							3e-13	Tier 4: intronic/intergenic
chr17:137198							5e-13	Tier 4: intronic/intergenic
chr7:11638213							5e-13	Tier 4: intronic/intergenic
chr3:133448489							7e-13	Tier 4: intronic/intergenic
chr17:77498983							1e-12	Tier 4: intronic/intergenic
chr1:156532386							2e-12	Tier 4: intronic/intergenic
chr1:51003856							3e-12	Tier 4: intronic/intergenic
chr1:10763816							2e-11	Tier 4: intronic/intergenic

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 0.