Vitreous body disorder

Summary

Vitreous body disorder (MONDO:0044137) is a disease with 7 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

• GWAS associations: 7

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	vitreous body disorder
Mondo ID	MONDO:0044137
EFO	EFO:0008624
NCIT	C45256
SNOMED CT	76682005
UMLS	C0155365
MedGen	56361
Anatomy (UBERON)	UBERON:0001798
Is cancer (heuristic)	no

Also known as: disease of vitreous body · disease or disorder of vitreous body · disorder of vitreous body · vitreous body disease · vitreous body disease or disorder · vitreous body disorder

Data availability: 7 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 › vitreous body disorder

Related subtypes (119): ptosis, eye accommodation disease, corneal disorder, asthenopia, lens disorder, 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, 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 (2): vitreous disorder, hyalitis

Genetics & variants

GWAS landscape

7 GWAS associations across 17 studies. Top hits map to 2 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
chr14:34496757	1e-11		G	0.06
rs564109970	1e-08	NCKAP5	T	3.58
chr1:165964798	3e-08		T	1.31
chr2:236115130	3e-08		A	2.55
chr1:176600451	4e-08		T	0.55
chr11:61358122	5e-08		C	1.42
rs148229412	5e-07	CNTRL	?

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90475898	Verma A	2024	45,462	369,013	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90473440	UK Biobank Whole-Genome Sequencing Consortium	2025	11,074	447,366	Whole-genome sequencing of 490,640 UK Biobank participants.
GCST90667775	UK Biobank Whole-Genome Sequencing Consortium	2025	11,074	447,366	Whole-genome sequencing of 490,640 UK Biobank participants.
GCST90477781	Verma A	2024	9,003	104,850	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90481127	Verma A	2024	9,003	104,850	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90477779	Verma A	2024	4,495	51,251	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90079912	Backman JD	2021	3,002	378,726	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90083898	Backman JD	2021	3,002	378,726	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90652149	Liu TY	2025	2,054	213,222	Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population.
GCST90436023	Zhou W	2018	1,372	401,245	Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies.

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	7

MAF distribution

Bucket	Variants
common (>=0.05)	2
low_freq (0.01-0.05)	0
rare (<0.01)	0
unknown	5

Functional consequences

Consequence	Count
unknown	5
intron_variant	2

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
chr14:34496757				0.215			1e-11	Tier 4: intronic/intergenic
rs564109970	2	132744636	A>T	0.189	intron_variant	NCKAP5	1e-08	Tier 4: intronic/intergenic
chr1:165964798							3e-08	Tier 4: intronic/intergenic
chr2:236115130							3e-08	Tier 4: intronic/intergenic
chr1:176600451							4e-08	Tier 4: intronic/intergenic
chr11:61358122							5e-08	Tier 4: intronic/intergenic
rs148229412	9	121077970	G>A,C,T		intron_variant	CNTRL	5e-07	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.