Ocular hypotension

Summary

Ocular hypotension (MONDO:0004390) is a disease with 38 GWAS associations across 3 studies and 1 clinical trial. 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: 38
• Clinical trials: 1

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	ocular hypotension
Mondo ID	MONDO:0004390
MeSH	D015814
DOID	DOID:790
ICD-10-CM	H44.4
SNOMED CT	19721008
UMLS	C0028841
MedGen	10424
Is cancer (heuristic)	no

Also known as: hypotony of eye

Data availability: 38 GWAS associations (3 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 › ocular hypotension

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, 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 (2): blind hypotensive eye, primary eye hypotony

Genetics & variants

GWAS landscape

38 GWAS associations across 3 studies. Top hits map to 22 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs527975816	5e-17	H3P29 - LINC-ADAIN	C	5.41
rs539926397	8e-14	DSCAM	G	3.06
rs571587264	1e-13	FOXO6	G	4.46
rs527664446	1e-13	CNTN6	A	4.29
rs370615916	3e-13	NPS - FOXI2	C	2.87
rs138386818	4e-13	RPS8P3 - DCC	A	3.62
rs181355383	6e-13	ADAMTS7	G	3.25
rs559371473	9e-13	HMGB3P18 - RNU1-18P	C	2.65
rs535337559	1e-12	TPST2	C	2.19
rs537142657	2e-12	SMAP1	T	3.86
rs77455754	2e-12	LINC01495	C	2.66
rs116615195	3e-12	ARAP3 - PCDH1	T	2.02
rs181230539	3e-12	CASC15	C	3.22
rs144373875	5e-12	EXOSC8P1 - VEGFA	T	3.9
rs548110144	5e-12	RASSF5	A	2.15
rs34056680	6e-12	KCNF1 - RPL6P4	G	2.95
rs528235956	7e-12	PACRG	A	4.58
rs138466498	7e-12	RNU6-380P - ABHD17C	G	2.6
rs547444819	7e-12	ESRRG - GPATCH2	G	3.51
rs188314624	8e-12	WHRN	G	1.52
rs201826989	9e-12	TMEM183BP, PFN2	T	3.54
rs142957876	1e-11	PRDM16	C	3.54
rs565117626	1e-11	TMEM8B	C	3.25
rs189220659	1e-11	LINC00709 - HSP90AB7P	A	2.74
rs186606138	2e-11	MIR548A1HG - RPL21P61	G	3.79
rs551687292	2e-11	AHCYL1 - STRIP1	G	3.8
rs543673391	2e-11	LINC01871	G	3.05
rs530588975	3e-11	SNX24	C	4.58
rs186298859	3e-11	SNTB1-AS1 - RPL35AP19	T	6.54
rs190713775	3e-11	OTX2P1 - PCSK5	G	3.05

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90481898	Verma A	2024	289	450,826	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90480038	Verma A	2024	213	121,499	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90481897	Verma A	2024	213	121,499	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	1
Tier 2: splice/UTR	1
Tier 3: regulatory	1
Tier 4: intronic/intergenic	35

MAF distribution

Bucket	Variants
common (>=0.05)	0
low_freq (0.01-0.05)	0
rare (<0.01)	38
unknown	0

Functional consequences

Consequence	Count
intron_variant	19
intergenic_variant	13
non_coding_transcript_exon_variant	3
regulatory_region_variant	1
3_prime_UTR_variant	1
stop_gained	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs527975816	9	1031399	C>A	0.001	intergenic_variant	H3P29 - LINC-ADAIN	5e-17	Tier 4: intronic/intergenic
rs539926397	21	40578789	G>A	0.001	intron_variant	DSCAM	8e-14	Tier 4: intronic/intergenic
rs571587264	1	41375792	G>A	0	intron_variant	FOXO6	1e-13	Tier 4: intronic/intergenic
rs527664446	3	1394101	A>G	0	intron_variant	CNTN6	1e-13	Tier 4: intronic/intergenic
rs370615916	10	127721316	C>T	0.002	intergenic_variant	NPS - FOXI2	3e-13	Tier 4: intronic/intergenic
rs138386818	18	51966018	A>T	0	intergenic_variant	RPS8P3 - DCC	4e-13	Tier 4: intronic/intergenic
rs181355383	15	78778664	G>A,C,T	0.002	intron_variant	ADAMTS7	6e-13	Tier 4: intronic/intergenic
rs559371473	6	121985132	C>T	0.002	intron_variant	HMGB3P18 - RNU1-18P	9e-13	Tier 4: intronic/intergenic
rs535337559	22	26590312	C>T	0.002	regulatory_region_variant	TPST2	1e-12	Tier 3: regulatory
rs537142657	6	70762285	T>G	0.001	intron_variant	SMAP1	2e-12	Tier 4: intronic/intergenic
rs77455754	11	22513348	C>T	0.002	intron_variant	LINC01495	2e-12	Tier 4: intronic/intergenic
rs116615195	5	141747606	T>C	0.004	intron_variant	ARAP3 - PCDH1	3e-12	Tier 4: intronic/intergenic
rs181230539	6	21844835	C>G	0	intron_variant	CASC15	3e-12	Tier 4: intronic/intergenic
rs144373875	6	43736951	T>A,C	0.001	intron_variant	EXOSC8P1 - VEGFA	5e-12	Tier 4: intronic/intergenic
rs548110144	1	206542298	A>G	0.001	non_coding_transcript_exon_variant	RASSF5	5e-12	Tier 4: intronic/intergenic
rs34056680	2	10973905	G>A	0.001	intergenic_variant	KCNF1 - RPL6P4	6e-12	Tier 4: intronic/intergenic
rs528235956	6	162767388	A>C,G	0.002	intron_variant	PACRG	7e-12	Tier 4: intronic/intergenic
rs138466498	15	80679112	G>A	0.003	intergenic_variant	RNU6-380P - ABHD17C	7e-12	Tier 4: intronic/intergenic
rs547444819	1	217321215	G>C,T	0	intergenic_variant	ESRRG - GPATCH2	7e-12	Tier 4: intronic/intergenic
rs188314624	9	114469450	G>A	0.008	intron_variant	WHRN	8e-12	Tier 4: intronic/intergenic
rs201826989	3	149983127	T>C	0	non_coding_transcript_exon_variant	TMEM183BP, PFN2	9e-12	Tier 4: intronic/intergenic
rs142957876	1	3084227	C>A	0.002	intron_variant	PRDM16	1e-11	Tier 4: intronic/intergenic
rs565117626	9	35860108	C>T	0.001	3_prime_UTR_variant	TMEM8B	1e-11	Tier 2: splice/UTR
rs189220659	10	9293115	A>G	0.001	non_coding_transcript_exon_variant	LINC00709 - HSP90AB7P	1e-11	Tier 4: intronic/intergenic
rs186606138	6	18699139	G>A,T	0.001	intergenic_variant	MIR548A1HG - RPL21P61	2e-11	Tier 4: intronic/intergenic
rs551687292	1	110025289	G>T	0	intergenic_variant	AHCYL1 - STRIP1	2e-11	Tier 4: intronic/intergenic
rs543673391	2	7738112	G>C	0.001	intron_variant	LINC01871	2e-11	Tier 4: intronic/intergenic
rs530588975	5	123021951	C>A	0.001	intergenic_variant	SNX24	3e-11	Tier 4: intronic/intergenic
rs186298859	8	120903746	T>A	0.001	intergenic_variant	SNTB1-AS1 - RPL35AP19	3e-11	Tier 4: intronic/intergenic
rs190713775	9	75809476	G>A	0.001	intergenic_variant	OTX2P1 - PCSK5	3e-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: 1.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT02990169	Not specified	COMPLETED	Clinical Evaluation of CATS Tonometer Prism