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IOPQTL
MCID: INT323
MIFTS: 64

Intraocular Pressure Quantitative Trait Locus (IOPQTL)

Categories: Eye diseases, Neuronal diseases
Genes Variations Tissues Related diseases Publications Pathways Drugs
Sources

Aliases & Classifications for Intraocular Pressure Quantitative Trait Locus

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MalaCards integrated aliases for Intraocular Pressure Quantitative Trait Locus:

Name: Intraocular Pressure Quantitative Trait Locus 57
Glaucoma 57 12 75 29 55 6 43 44 15 63 40 17 33
Glaucoma, Susceptibility to 57
Iopqtl 57

Classifications:

MalaCards categories:
Anatomical: Eye diseases Neuronal diseases
See all MalaCards categories (disease lists)
ICD10: 33


External Ids:

Disease Ontology 12 DOID:1686
OMIM 57 611522
ICD9CM 35 365 365.9
MeSH 44 D005901
NCIt 50 C26782
SNOMED-CT 68 23986001
UMLS 72 C0017601
Sources

Summaries for Intraocular Pressure Quantitative Trait Locus

About this section
MedlinePlus : 43 Glaucoma is a group of diseases that can damage the eye's optic nerve. It is a leading cause of blindness in the United States. It usually happens when the fluid pressure inside the eyes slowly rises, damaging the optic nerve. Often there are no symptoms at first. Without treatment, people with glaucoma will slowly lose their peripheral, or side vision. They seem to be looking through a tunnel. Over time, straight-ahead vision may decrease until no vision remains. A comprehensive eye exam can tell if you have glaucoma. People at risk should get eye exams at least every two years. They include African Americans over age 40 People over age 60, especially Mexican Americans People with a family history of glaucoma There is no cure, but glaucoma can usually be controlled. Early treatment can help protect your eyes against vision loss. Treatments usually include prescription eyedrops and/or surgery. NIH: National Eye Institute

MalaCards based summary : Intraocular Pressure Quantitative Trait Locus, also known as glaucoma, is related to glaucoma 1, open angle, a and glaucoma, normal tension. An important gene associated with Intraocular Pressure Quantitative Trait Locus is ZEB1 (Zinc Finger E-Box Binding Homeobox 1), and among its related pathways/superpathways is Proximal tubule bicarbonate reclamation. The drugs Scopolamine and Glimepiride have been mentioned in the context of this disorder. Affiliated tissues include Eye, eye and testes, and related phenotypes are homeostasis/metabolism and mortality/aging

Disease Ontology : 12 An eye disease that is characterized by an unstable or a sustained increase in the intraocular pressure which the eye cannot withstand without damage to its structure or impairment of its function.

PubMed Health : 63 About glaucoma: Vision often worsens with age. In addition to this normal aging effect, people may also develop eye conditions that further impair their eyesight or even lead to blindness. Glaucoma is one of the more common eye diseases. The term "glaucoma" is used to describe a number of different eye conditions, all of which involve damage to the optic nerve. This leads to ever larger gaps in the field of vision, which often remain unnoticed at first. Your field of vision is what you can see when you look straight ahead, without moving your eyes. In advanced stages, your ability to see things sharply (visual acuity) also gets worse. The following information mainly covers the most common form of glaucoma, called primary open-angle glaucoma (POAG). It progresses slowly, and damage to the optic nerve will not cause vision problems for many years. Eye drops and surgery are the most common treatment options.

Wikipedia : 75 Glaucoma is a group of eye diseases which result in damage to the optic nerve and cause vision loss. The... more...

More information from OMIM: 611522
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Related Diseases for Intraocular Pressure Quantitative Trait Locus

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Diseases related to Intraocular Pressure Quantitative Trait Locus via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 1250)
# Related Disease Score Top Affiliating Genes
1 glaucoma 1, open angle, a 35.0 OPTN MYOC CYP1B1
2 glaucoma, normal tension 34.8 OPTN OPA1 LOXL1
3 glaucoma-related pigment dispersion syndrome 34.8 PITX2 LOXL1 CYP1B1
4 primary angle-closure glaucoma 34.7 OPTN MYOC CYP1B1
5 glaucoma 3, primary congenital, a 34.6 PITX2 PAX6 OPTN MYOC FOXC1 CYP1B1
6 early-onset glaucoma 34.5 SBF2 PITX2 MYOC CYP1B1
7 chronic closed-angle glaucoma 34.5 TGFB2 OPTN
8 primary congenital glaucoma 34.2 WDR36 PITX2 OPTN MYOC FOXC1 CYP1B1
9 neovascular glaucoma 34.2 TGFB2 OPTN
10 glaucoma, primary open angle 34.1 WDR36 TGFB2 OPTN MYOC LOXL1 CYP1B1
11 anterior segment dysgenesis 4 33.9 PITX2 FOXC1
12 open-angle glaucoma 33.9 WDR36 TGFB2 PTGFR OPTN MYOC LOXL1
13 juvenile glaucoma 33.6 WDR36 TGFB2 PITX2 PAX6 OPTN MYOC
14 peters-plus syndrome 33.6 PITX2 PAX6 FOXC1 CYP1B1
15 phacogenic glaucoma 33.5 OPTN LOXL1
16 axenfeld-rieger syndrome 33.3 PITX2 PAX6 OPTN FOXC1 CYP1B1
17 hydrophthalmos 33.3 PITX2 OPTN FOXC1 CYP1B1
18 optic nerve disease 33.0 OPTN OPA1 MYOC EDN1
19 acrofrontofacionasal dysostosis 32.9 OPTN CYP1B1
20 aniridia 1 32.9 PITX2 PAX6 OPTN FOXC1 CYP1B1
21 axenfeld-rieger syndrome, type 2 32.9 PITX2 OPTN FOXC1
22 anterior segment dysgenesis 32.8 PITX2 PAX6 FOXC1 CYP1B1
23 coloboma of macula 32.7 PAX6 OPTN CYP1B1
24 axenfeld-rieger syndrome, type 3 32.7 PITX2 PAX6 FOXC1 CYP1B1
25 anterior segment dysgenesis 1 32.6 PITX2 PAX6
26 ocular hypertension 32.5 PTGFR OPTN MYOC CA2
27 corneal edema 32.0 OPTN MYOC CYP1B1
28 corneal disease 31.4 ZEB1 TGFB2 OPTN
29 excessive tearing 30.7 OPTN MYOC CYP1B1
30 anterior segment dysgenesis 5 30.5 PAX6 CYP1B1
31 iris disease 30.5 PITX2 PAX6 OPTN LOXL1 FOXC1
32 ritscher-schinzel syndrome 30.4 OPTN FOXC1
33 congenital aphakia 30.2 PAX6 OPTN
34 uveal disease 30.2 PAX6 OPTN LOXL1
35 diffuse meningeal melanocytosis 30.1 OPTN EDN1
36 coloboma, ocular, autosomal dominant 29.8 PAX6 CYP1B1
37 glaucoma 1, open angle, p 12.6
38 glaucoma 3, primary infantile, b 12.6
39 glaucoma 1, open angle, f 12.5
40 glaucoma 1, open angle, o 12.5
41 glaucoma 1, open angle, g 12.5
42 glaucoma 3, primary congenital, d 12.5
43 microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma 12.5
44 phacolytic glaucoma 12.5
45 glaucoma 3, primary congenital, e 12.4
46 retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma 12.4
47 glaucoma 1, open angle, i 12.4
48 glaucoma and sleep apnea 12.4
49 acute closed-angle glaucoma 12.3
50 glaucoma 1, open angle, d 12.3

Graphical network of the top 20 diseases related to Intraocular Pressure Quantitative Trait Locus:



Diseases related to Intraocular Pressure Quantitative Trait Locus
Sources

Symptoms & Phenotypes for Intraocular Pressure Quantitative Trait Locus

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Clinical features from OMIM:

611522

MGI Mouse Phenotypes related to Intraocular Pressure Quantitative Trait Locus:

46 (show all 17)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.35 CA2 CA4 CYP1B1 EDN1 FOXC1 LMX1B
2 mortality/aging MP:0010768 10.27 CA2 CA4 EDN1 FOXC1 LMX1B OPA1
3 growth/size/body region MP:0005378 10.25 CA2 CA4 EDN1 FOXC1 LOXL1 OPA1
4 cardiovascular system MP:0005385 10.22 EDN1 FOXC1 LMX1B OPA1 PAX6 PITX2
5 craniofacial MP:0005382 10.21 EDN1 FOXC1 LMX1B OPA1 PAX6 PITX2
6 digestive/alimentary MP:0005381 10.2 CA2 EDN1 FOXC1 LOXL1 PAX6 PITX2
7 embryo MP:0005380 10.19 EDN1 FOXC1 LMX1B OPA1 PAX6 PITX2
8 endocrine/exocrine gland MP:0005379 10.18 CA2 EDN1 FOXC1 OPA1 PAX6 PITX2
9 nervous system MP:0003631 10.18 CA2 EDN1 FOXC1 LMX1B LOXL1 OPA1
10 muscle MP:0005369 10.09 EDN1 FOXC1 LMX1B OPA1 PAX6 PITX2
11 reproductive system MP:0005389 10 CA2 CA4 FOXC1 LOXL1 OPA1 PAX6
12 hearing/vestibular/ear MP:0005377 9.97 COCH EDN1 OPA1 PAX6 TGFB2 ZEB1
13 normal MP:0002873 9.97 COCH EDN1 FOXC1 LMX1B MYOC PAX6
14 renal/urinary system MP:0005367 9.87 CA2 EDN1 FOXC1 LMX1B PAX6 SLC4A4
15 respiratory system MP:0005388 9.7 CA2 FOXC1 LOXL1 PAX6 PITX2 TGFB2
16 skeleton MP:0005390 9.61 CA2 EDN1 FOXC1 LMX1B PAX6 PITX2
17 vision/eye MP:0005391 9.32 CYP1B1 FOXC1 LMX1B MYOC OPA1 PAX6
Sources

Drugs & Therapeutics for Intraocular Pressure Quantitative Trait Locus

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PubMed Health treatment related to Intraocular Pressure Quantitative Trait Locus: 63

Lowering high intraocular pressure can help to delay or stop the gradual progression of vision loss. Glaucoma can't be cured, though, because existing damage to the optic nerve can't be reversed. If someone has glaucoma and high intraocular pressure, it is usually treated using eye drops. Depending on the specific product, the eye drops are applied either once or several times a day. Surgery or laser therapy may be considered if the medication doesn't work, stops working after a while, or is not well tolerated.

Drugs for Intraocular Pressure Quantitative Trait Locus (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 441)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Scopolamine Approved, Investigational Phase 4 6533-68-2, 51-34-3 5184
2
Glimepiride Approved Phase 4 93479-97-1 3476
3
Alogliptin Approved Phase 4 850649-61-5 11450633
4
Metformin Approved Phase 4 657-24-9 4091 14219
5
Pioglitazone Approved, Investigational Phase 4 111025-46-8 4829
6
Latanoprost Approved, Investigational Phase 4 130209-82-4 5282380 5311221
7
Hyaluronic acid Approved, Vet_approved Phase 4 9004-61-9 53477741
8
Dorzolamide Approved Phase 4 120279-96-1 3154 5284549
9
Carteolol Approved Phase 4 51781-06-7 2583
10
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 68602 5311068
11
Ketorolac Approved Phase 4 74103-06-3, 66635-83-4 3826
12
Apraclonidine Approved Phase 4 66711-21-5 2216
13
Ofloxacin Approved Phase 4 82419-36-1 4583
14
Levofloxacin Approved, Investigational Phase 4 100986-85-4 149096
15
Nepafenac Approved, Investigational Phase 4 78281-72-8 151075
16
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
17
Sorbitol Approved Phase 4 50-70-4 5780
18
Loteprednol Approved, Experimental Phase 4 129260-79-3, 82034-46-6 444025 9865442
19
Clonidine Approved Phase 4 4205-90-7 2803
20
Fluticasone Approved, Experimental Phase 4 90566-53-3 62924
21
Loperamide Approved Phase 4 53179-11-6 3955
22
Nitrous oxide Approved, Vet_approved Phase 4 10024-97-2 948
23
Dinoprost Approved, Investigational Phase 4 551-11-1 5283078
24
Dinoprost tromethamine Approved, Vet_approved Phase 4 38562-01-5 5282415
25
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
26
Dinoprostone Approved Phase 4 363-24-6 5280360
27
Guaifenesin Approved, Investigational, Vet_approved Phase 4 93-14-1 3516
28
Opium Approved, Illicit Phase 4 8008-60-4
29
Glycerol Approved, Investigational Phase 4 56-81-5 753
30
Belladonna Approved, Experimental Phase 4
31
Ketamine Approved, Vet_approved Phase 4 6740-88-1 3821
32
Acetazolamide Approved, Vet_approved Phase 4 59-66-5 1986
33
tannic acid Approved Phase 4 1401-55-4
34
Benzocaine Approved, Investigational Phase 4 94-09-7, 1994-09-7 2337
35
Diclofenac Approved, Vet_approved Phase 4 15307-86-5 3033
36
Midazolam Approved, Illicit Phase 4 59467-70-8 4192
37
Empagliflozin Approved Phase 4 864070-44-0
38
Triazolam Approved, Investigational Phase 4 28911-01-5 5556
39
Fluorouracil Approved Phase 4 51-21-8 3385
40
Trimethoprim Approved, Vet_approved Phase 4 738-70-5 5578
41
Tobramycin Approved, Investigational Phase 4 32986-56-4 36294 5496
42
Polymyxin B Approved, Vet_approved Phase 4 1404-26-8
43
Tropicamide Approved, Investigational Phase 4 1508-75-4 5593
44
Dipivefrin Approved Phase 4 52365-63-6 3105
45
Triamcinolone Approved, Vet_approved Phase 4 124-94-7 31307
46
Bromfenac Approved Phase 4 91714-94-2 60726
47
Brinzolamide Approved Phase 4 138890-62-7 68844
48
Bevacizumab Approved, Investigational Phase 4 216974-75-3
49
Indomethacin Approved, Investigational Phase 4 53-86-1 3715
50
Choline Approved, Nutraceutical Phase 4 62-49-7 305

Interventional clinical trials:

(show top 50) (show all 1736)
# Name Status NCT ID Phase Drugs
1 Comparison of Silicone and Porous Plate Ahmed Glaucoma Valves Unknown status NCT01883856 Phase 4
2 The Effect of Patient Education on Glaucoma Medication Compliance Unknown status NCT00376974 Phase 4
3 Randomized, Multicenter, Open-label, Parallel Group Study to Evaluate Efficacy and Safety of Combigan(Brimonidine/Timolol) and 0.5% Timoptic(Timolol) Ophthalmic Solutions in Normal Tension Glaucoma Patients Unknown status NCT01446497 Phase 4 Brimonidine/Timolol mixed combination;Timolol
4 A Study of the Glaukos Trabecular Micro-bypass Stent in Open Angle Glaucoma Subjects 1 Stent Versus 2 Stents Unknown status NCT00326079 Phase 4
5 Evaluation of Safety and Efficacy of Glaucoma Shunt (Aurolab Artificial Drainage Implant) in Refractory Glaucoma Unknown status NCT01401088 Phase 4
6 Combined Phacoemulsification and Glaucoma Implant Surgery Versus Combined Phacoemulsification and Trabeculectomy: A Randomized Controlled Trial Unknown status NCT00273221 Phase 4
7 Semi-Automated Patterned Laser Trabeculoplasty Unknown status NCT00804323 Phase 4
8 An Open Label,Switch Study of the Safety and Efficacy of Combigan Ophthalmic Solution(Brimonidine 0.2% and Timolol 0.5%)With Latanoprost Compared With Latanoprost Monotherapy in Patient With Glaucoma or Ocular Hypertension. Unknown status NCT00442312 Phase 4 Combigan Ophthalmic Solutiom
9 Efficiency of XAL-EASE Device in Glaucoma and/or Ocular Hypertension (OHT) Patients, Treated With Xalatan or Xalacom Unknown status NCT01125306 Phase 4
10 Use of Vascular Endothelial Growth Factor Inhibitor, Bevacizumab to Modulate the Outcomes of Trabeculectomy Surgery Unknown status NCT01229202 Phase 4 Bevacizumab
11 An 8 Week Comparison of Xalatan (Latanoprost) to Apo-latanoprost and Co-latanoprost in the Treatment of Open Angle Glaucoma Unknown status NCT02792803 Phase 4 Xalatan;Apo-Latanoprost;Co-Latanoprost
12 Safety and Efficacy Assessment of Monoprost® in Comparison With Lumigan® 0.01% and Lumigan® 0.03% Unit Dose, in Patients With Primary Open Angle Glaucoma or Ocular Hypertension, Stabilized by Lumigan® 0.01% With Ocular Surface Intolerance Unknown status NCT02017327 Phase 4 Monoprost;Lumigan 0.01%;Lumigan 0.03% Unit Dose
13 Comparative Study of the Safety and Effectiveness Between Ologen (OculusGen) Collagen Matrix Implant and Mitomycin-C in Glaucoma Filtering Surgery Unknown status NCT00449098 Phase 4 Trabeculectomy with MMC
14 Impact of Timolol/Dorzolamide Therapy on Autoregulation in Glaucoma Patients Unknown status NCT02053298 Phase 4 Timolol & Dorzolamide
15 Comparison of the Ahmed Glaucoma Valve FP7 and FP8 in Pediatric Glaucoma: a Randomized Clinical Trial. Unknown status NCT01494974 Phase 4
16 A Randomised Controlled Trial to Compare the Clinical Effectiveness of Selective Laser Trabeculoplasty (SLT) Versus Topical Therapy in the Treatment of Pseudoexfoliative Glaucoma Unknown status NCT01704989 Phase 4 Prostagladin
17 Randomized Crossover Trial Comparing the Hypotensive Effect of Generic Travoprost With That of the Brand Name Travoprost in Patients With Primary Open Angle Glaucoma or Ocular Hypertension Unknown status NCT02796560 Phase 4 Brand name travoprost;Generic travoprost
18 Phase 4 Study to Evaluate Efficacy And Safety of Three Different Preparations of Latanoprost 0,005% Eyedrops in Subjects Affected by Primary Open Angle Glaucoma Unknown status NCT01580254 Phase 4 IOPIZE© Latanoprost eyedrops;GALAXIA© Latanoprost eyedrops;Latanoprost RATIOPHARM© latanoprost eyedrops
19 The Impact of Topical Prostaglandin Analogs on the Biomechanical Properties of the Cornea in Patients With Open Angle Glaucoma Unknown status NCT02388360 Phase 4 topical prostaglandin analogs
20 EFFECTS OF IMMEDIATE ARGON LASER PERIPHERAL IRIDOPLASTY Versus CONVENTIONAL SYSTEMIC MEDICAL THERAPY ON OPTIC NERVE HEAD STRUCTURE AND FUNCTION OF ACUTE PRIMARY ANGLE CLOSURE EYES Unknown status NCT00485238 Phase 4 Intravenous acetazolamide
21 Comparative Study of the Safety and Effectiveness Between Off-Label Subconjunctival Bevacizumab and Mitomycin C in Glaucoma Filtering Surgery. Unknown status NCT00468429 Phase 4 Subconjunctival Bevacizumab
22 IOP and Tolerability Study of Preserved Bimatoprost 0.1% or Tafluprost Unit Dose Preservative Free 15microgram/ml, in Patients With OHT or Glaucoma Suitable for Prostaglandin Therapy Unknown status NCT02471105 Phase 4 Preserved Bimatoprost 0.01%;Tafluprost Unit Dose Preservative Free 15microgram/ml
23 A Prospective, Randomized, Controlled Study to Assess Efficacy,Safety, and Tolerability of Selective Laser Trabeculoplasty vs. Pattern Laser Trabeculoplasty in Patients With Open-angle Glaucoma Unknown status NCT02231515 Phase 4
24 A Pilot Study on the Effects of Cosopt on IOP Lowering and Ocular Diastolic Perfusion Pressure in Patients Not Controlled With Xalatan Monotherapy Unknown status NCT00796198 Phase 4 Xalatan+Cosopt;Xalatan
25 Usefulness Of Flospan As A Premedication For Colonoscopy : A Randomized Double Blind Controlled Trial Unknown status NCT01842932 Phase 4 Phloroglucin;Cimetropium bromide;Placebo
26 Influence of Glidescope Assisted Endotracheal Intubation on Intraocular Presure Unknown status NCT01271621 Phase 4
27 Bleb Vascularity Change After Subconjunctival Injection of Bevacizumab Unknown status NCT00815594 Phase 4 bevacizumab
28 The Effect of "Eye Drop Guide" on the Success Rate of Eye Drops Self-instillation in Glaucoma Patients. Unknown status NCT01704248 Phase 4
29 IntraVitreal Triamcinolone Acetonide: Preventing Raised Eye-pressure by Tracking Elevations After Topical Steroids Unknown status NCT00744666 Phase 4 Prednisolone 1% topical eye drops
30 Does Hyoscine N-butylbromide Administered During Colonoscopy Increase the Polyp Detection Rate? a Randomized, Single Center, Double Blind, Placebo-controlled Study Unknown status NCT01609855 Phase 4 Hyoscine Butyl Bromide 20mg/2 ml i.v.;Saline 2 ml i.v.
31 Assessment in Early Changes in the Parameters of Optical Coherence Tomography (OCT Spectral Domain) in Patients With Subfoveal Neovascular Membranes Related to Age After Treatment With a Single Intravitreal Injection of Lucentis. Unknown status NCT01669447 Phase 4
32 New Horizons in the Treatment of Vitreous Floaters: Efficacy and Safety of Vitreolysis With the Ultra Q Reflex YAG Laser (Ellex) Unknown status NCT02812004 Phase 4
33 Management of Active and Established Corneal Neovascularisation to Prevent Visual Impairment Unknown status NCT02594423 Phase 4 Bevacizumab
34 A Phase IV, Multicenter, Randomized, Active Comparator Controlled Study of the Addition of Pioglitazone Compared With Glimepiride in Subjects With Type 2 Diabetes Mellitus Who Have Inadequate Glycemic Control on Metformin and Alogliptin Unknown status NCT02426294 Phase 4 Pioglitazone;Glimepiride
35 A Randomised Controlled Trial of the Effectiveness of Acetazolamide in Reducing Cerebrospinal Fluid Pressure for Patients Undergoing Thoracic-abdominal Aortic Repair Unknown status NCT01889498 Phase 4 Acetazolamide
36 A Study of the Glaukos Trabecular Micro-Bypass Stent in Combination With Cataract Surgery in Open Angle Glaucoma Subjects. Completed NCT00326014 Phase 4
37 DuoTrav® Eye Drops As Replacement Therapy Program Completed NCT00828906 Phase 4 DuoTrav
38 Investigation of the Effect of Travoprost Ophthalmic Solution of Lowering Intraocular Pressure in Patients With Normal Tension Glaucoma Completed NCT01995136 Phase 4 Travoprost Ophthalmic Solution 0.004%
39 A Study of the Glaukos Trabecular Micro-Bypass Stent in Refractory Open Angle Glaucoma Subjects. Completed NCT00326040 Phase 4
40 A Prospective Evaluation of Open-angle Glaucoma Subjects on Two Topical Hypotensive Medication Treated With Two Trabecular Micro-bypass Stents Completed NCT01252888 Phase 4
41 A Prospective, Randomized Evaluation of Subjects With Open-angle Glaucoma, Pseudoexfoliative Glaucoma, or Ocular Hypertension Naïve to Medical and Surgical Therapy, Treated With Two Trabecular Micro-bypass Stents (iStent) or Travoprost Ophthalmic Solution 0.004% Completed NCT01443988 Phase 4 Travoprost
42 Assessing the Efficacy and Tolerability of AZARGA® (Brinzolamide 1%/Timolol 0.5% Fixed Combination) as Replacement Therapy in Patients on COMBIGAN® (Brimonidine 0.2%/Timolol 0.5% Fixed Combination) Therapy in Canada Completed NCT01415401 Phase 4 Brinzolamide 1% / timolol 0.5% maleate fixed combination
43 Assessment of Late Day IOP Control in Subjects With Open-Angle Glaucoma or Ocular Hypertension Treated With Travoprost 0.004% (TRAVATAN® Z) or Bimatoprost 0.01% (LUMIGAN®) Completed NCT01464424 Phase 4 Travoprost 0.004% ophthalmic solution;Bimatoprost 0.01% ophthalmic solution
44 A Prospective Evaluation of Open-angle Glaucoma Subjects on One Topical Hypotensive Medication Treated With Two Trabecular Micro-bypass Stents Completed NCT01252862 Phase 4
45 A Prospective, Unmasked Evaluation of the iStent in Patients With Primary Open-Angle Glaucoma Completed NCT00911924 Phase 4
46 A Study of 0.15% Brimonidine Tartrate in Patients With Primary Open Angle Glaucoma and Ocular Hypertension Completed NCT02003534 Phase 4 0.15% Brimonidine Tartrate
47 Assessing the Safety and Efficacy of Switching to AZARGA® (Brinzolamide/Timolol Fixed Combination) as Replacement Therapy in Patients With Uncontrolled Intraocular Pressure in Taiwan Completed NCT01484951 Phase 4 Brinzolamide 1% and timolol 0.5% fixed combination eye drops
48 A Study of 0.03% Bimatoprost in the Treatment of Primary Open Angle Glaucoma and Ocular Hypertension Completed NCT02020512 Phase 4 0.03% Bimatoprost
49 Assessing the Efficacy and Tolerability of AZARGA® (Brinzolamide 1%/Timolol 0.5% Fixed Combination) as Replacement Therapy in Patients on Brimonidine 0.2%/Timolol 0.5% Fixed Combination Therapy (COMBIGAN®) in Latin America Completed NCT01518244 Phase 4 Brinzolamide/timolol maleate fixed combination
50 ELAZOP Switching Study in Korea Completed NCT01055366 Phase 4 Elazop (Azarga)

Search NIH Clinical Center for Intraocular Pressure Quantitative Trait Locus

Inferred drug relations via UMLS 72 / NDF-RT 51 :


Acetazolamide
Echothiophate

Cochrane evidence based reviews: glaucoma

Sources

Genetic Tests for Intraocular Pressure Quantitative Trait Locus

About this section

Genetic tests related to Intraocular Pressure Quantitative Trait Locus:

# Genetic test Affiliating Genes
1 Glaucoma 29
Sources

Anatomical Context for Intraocular Pressure Quantitative Trait Locus

About this section

MalaCards organs/tissues related to Intraocular Pressure Quantitative Trait Locus:

41
Eye, Testes, Endothelial, Retina, Brain, Bone, Thyroid
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Intraocular Pressure Quantitative Trait Locus:
# Tissue Anatomical CompartmentCell Relevance
1 Eye Ganglion Cell Layer Mature Ganglion Cells Affected by disease
Sources

Publications for Intraocular Pressure Quantitative Trait Locus

About this section

Articles related to Intraocular Pressure Quantitative Trait Locus:

(show top 50) (show all 30175)
# Title Authors PMID Year
1
Efficacy of travoprost for the treatment of patients with glaucoma. 38 17
31335731 2019
2
Efficacy and safety of prostaglandin analogues in primary open-angle glaucoma or ocular hypertension patients: A meta-analysis. 38 17
31348303 2019
3
Association of MTHFR C677T and A1298C Polymorphisms with Glaucoma Risk: a Systematic Review Meta-Analysis based 42 Case-Control Studies. 38 17
31334388 2019
4
Identification of novel genetic loci for intraocular pressure: a genomewide scan of the Beaver Dam Eye Study. 8
17210855 2007
5
Development of a gene therapy virus with a glucocorticoid-inducible MMP1 for the treatment of steroid glaucoma. 9 38
20089870 2010
6
Little evidence for association of the glaucoma gene MYOC with open-angle glaucoma. 9 38
20447966 2010
7
Rescue of glaucoma-causing mutant myocilin thermal stability by chemical chaperones. 9 38
20334347 2010
8
Major LOXL1 risk allele is reversed in exfoliation glaucoma in a black South African population. 9 38
20431720 2010
9
Lysyl oxidase-like 1 gene polymorphisms in German patients with normal tension glaucoma, pigmentary glaucoma and exfoliation glaucoma. 9 38
19373106 2010
10
Ethnicity-based subgroup meta-analysis of the association of LOXL1 polymorphisms with glaucoma. 9 38
20142848 2010
11
Posttranslational modifications, localization, and protein interactions of optineurin, the product of a glaucoma gene. 9 38
20161783 2010
12
OPA1 increases the risk of normal but not high tension glaucoma. 9 38
19581274 2010
13
Regulation of endocytic trafficking of transferrin receptor by optineurin and its impairment by a glaucoma-associated mutant. 9 38
20085643 2010
14
Differential effects of myocilin and optineurin, two glaucoma genes, on neurite outgrowth. 9 38
19959812 2010
15
Evaluation of MMP1 and MMP3 gene polymorphisms in exfoliation syndrome and exfoliation glaucoma. 9 38
20038976 2009
16
[New developments in glaucoma medical treatment]. 9 38
19902393 2009
17
Evaluation of nine candidate genes in patients with normal tension glaucoma: a case control study. 9 38
19754948 2009
18
Sequence analysis of MYOC and CYP1B1 in a Chinese pedigree of juvenile glaucoma with goniodysgenesis. 9 38
19668597 2009
19
CYP1B1, a developmental gene with a potential role in glaucoma therapy. 9 38
19622003 2009
20
From epidemiology to lysyl oxidase like one (LOXL1) polymorphisms discovery: phenotyping and genotyping exfoliation syndrome and exfoliation glaucoma in Iceland. 9 38
19664108 2009
21
Molecular pathology of pseudoexfoliation syndrome/glaucoma--new insights from LOXL1 gene associations. 9 38
18809397 2009
22
Glaucoma-associated myocilin: a better understanding but much more to learn. 9 38
18804106 2009
23
Genetic risk for primary open-angle glaucoma determined by LMX1B haplotypes. 9 38
18952915 2009
24
Optineurin and its mutants: molecules associated with some forms of glaucoma. 9 38
19672125 2009
25
Overexpression of myocilin in the Drosophila eye activates the unfolded protein response: implications for glaucoma. 9 38
19148291 2009
26
Investigation of the association between the GLC3A locus and normal tension glaucoma in Japanese patients by microsatellite analysis. 9 38
19668563 2009
27
Genotype-correlated expression of lysyl oxidase-like 1 in ocular tissues of patients with pseudoexfoliation syndrome/glaucoma and normal patients. 9 38
18974306 2008
28
[Two variants in MYOC and CYP1B1 genes in a Chinese family with primary angle-closure glaucoma]. 9 38
18841557 2008
29
Matrix metalloproteinases and their tissue inhibitors after selective laser trabeculoplasty in pseudoexfoliative secondary glaucoma. 9 38
18939999 2008
30
Two novel myocilin mutations in a Chinese family with primary open-angle glaucoma. 9 38
18776955 2008
31
Transthyretin and complex protein pattern in aqueous humor of patients with primary open-angle glaucoma. 9 38
18682810 2008
32
Evaluation of LOXL1 polymorphisms in eyes with exfoliation glaucoma in Japanese. 9 38
18648524 2008
33
Role of the ETB receptor in retinal ganglion cell death in glaucoma. 9 38
18516102 2008
34
Late-onset bilateral lens dislocation and glaucoma associated with a novel mutation in FBN1. 9 38
18615205 2008
35
LOXL1 genetic polymorphisms are associated with exfoliation glaucoma in the Japanese population. 9 38
18552979 2008
36
Heterozygous FOXC1 mutation (M161K) associated with congenital glaucoma and aniridia in an infant and a milder phenotype in her mother. 9 38
18484311 2008
37
Lysyl oxidase-like protein 1 (LOXL1) gene polymorphisms and exfoliation glaucoma in a Central European population. 9 38
18483563 2008
38
Leu432Val polymorphism in CYP1B1 as a susceptible factor towards predisposition to primary open-angle glaucoma. 9 38
18483560 2008
39
Sera of glaucoma patients show autoantibodies against myelin basic protein and complex autoantibody profiles against human optic nerve antigens. 9 38
18193265 2008
40
Evaluation of LOXL1 gene polymorphisms in exfoliation syndrome and exfoliation glaucoma. 9 38
18385788 2008
41
Myocilin allele-specific glaucoma phenotype database. 9 38
17966125 2008
42
Heterozygous expression of myocilin glaucoma mutants increases secretion of the mutant forms and reduces extracellular processed myocilin. 9 38
19023451 2008
43
Role of CYP1B1 in glaucoma. 9 38
17914928 2008
44
Evaluation of LOXL1 polymorphisms in primary open-angle glaucoma in southern and northern Chinese. 9 38
19098994 2008
45
Mitochondrial association of myocilin, product of a glaucoma gene, in human trabecular meshwork cells. 9 38
17516541 2007
46
Glaucoma-associated CYP1B1 mutations share similar haplotype backgrounds in POAG and PACG phenotypes. 9 38
18055790 2007
47
[A novel mutation in the myocilin gene identified in a Chinese primary open angle glaucoma family]. 9 38
18067072 2007
48
Embryonic expression of the optineurin (glaucoma) gene in different stages of mouse development. 9 38
17893645 2007
49
Interaction between two glaucoma genes, optineurin and myocilin. 9 38
17663725 2007
50
Presence of an established calcification marker in trabecular meshwork tissue of glaucoma donors. 9 38
17591888 2007
Sources

Variations for Intraocular Pressure Quantitative Trait Locus

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ClinVar genetic disease variations for Intraocular Pressure Quantitative Trait Locus:

6 (show all 31)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 ZEB1 NM_030751.6(ZEB1): c.973C> T (p.Arg325Ter) single nucleotide variant Pathogenic rs1057518956 10:31809236-31809236 10:31520308-31520308
2 CREBBP NM_001079846.1(CREBBP): c.3584G> A (p.Arg1195Lys) single nucleotide variant Likely pathogenic rs1057518844 16:3807289-3807289 16:3757288-3757288
3 MYOC NM_000261.2(MYOC): c.823A> T (p.Lys275Ter) single nucleotide variant risk factor rs879255525 1:171605757-171605757 1:171636617-171636617
4 46;XX;t(X;22)(q13;q13) Translocation Uncertain significance
5 MYOC NM_000261.2(MYOC): c.*241A> G single nucleotide variant Uncertain significance rs186880389 1:171604824-171604824 1:171635684-171635684
6 MYOC NM_000261.2(MYOC): c.*71G> A single nucleotide variant Uncertain significance rs886045564 1:171604994-171604994 1:171635854-171635854
7 MYOC NM_000261.2(MYOC): c.871G> A (p.Val291Ile) single nucleotide variant Uncertain significance rs886045565 1:171605709-171605709 1:171636569-171636569
8 MYOC NM_000261.2(MYOC): c.648G> A (p.Lys216=) single nucleotide variant Uncertain significance rs141584495 1:171607819-171607819 1:171638679-171638679
9 MYOC NM_000261.2(MYOC): c.335A> G (p.Glu112Gly) single nucleotide variant Uncertain significance rs886045566 1:171621417-171621417 1:171652277-171652277
10 MYOC NM_000261.2(MYOC): c.304T> A (p.Leu102Met) single nucleotide variant Uncertain significance rs140017103 1:171621448-171621448 1:171652308-171652308
11 MYOC NM_000261.2(MYOC): c.239C> A (p.Thr80Asn) single nucleotide variant Uncertain significance rs886045567 1:171621513-171621513 1:171652373-171652373
12 MYOC NM_000261.2(MYOC): c.114G> A (p.Arg38=) single nucleotide variant Uncertain significance rs767644139 1:171621638-171621638 1:171652498-171652498
13 MYOC NM_000261.2(MYOC): c.*426C> T single nucleotide variant Uncertain significance rs142425726 1:171604639-171604639 1:171635499-171635499
14 MYOC NM_000261.2(MYOC): c.*331A> G single nucleotide variant Uncertain significance rs548121911 1:171604734-171604734 1:171635594-171635594
15 MYOC NM_000261.2(MYOC): c.*188C> T single nucleotide variant Uncertain significance rs886045562 1:171604877-171604877 1:171635737-171635737
16 MYOC NM_000261.2(MYOC): c.992C> T (p.Ser331Leu) single nucleotide variant Uncertain significance rs775982158 1:171605588-171605588 1:171636448-171636448
17 MYOC NM_000261.2(MYOC): c.865G> A (p.Asp289Asn) single nucleotide variant Uncertain significance rs767627671 1:171605715-171605715 1:171636575-171636575
18 MYOC NM_000261.2(MYOC): c.728C> A (p.Thr243Asn) single nucleotide variant Uncertain significance rs781655611 1:171607739-171607739 1:171638599-171638599
19 MYOC NM_000261.2(MYOC): c.*182C> A single nucleotide variant Uncertain significance rs886045563 1:171604883-171604883 1:171635743-171635743
20 MYOC NM_000261.2(MYOC): c.568G> T (p.Asp190Tyr) single nucleotide variant Uncertain significance rs201930435 1:171621184-171621184 1:171652044-171652044
21 MYOC NM_000261.2(MYOC): c.224A> G (p.Gln75Arg) single nucleotide variant Uncertain significance rs886045568 1:171621528-171621528 1:171652388-171652388
22 MYOC NM_000261.2(MYOC): c.440G> A (p.Arg147Gln) single nucleotide variant Uncertain significance rs114283307 1:171621312-171621312 1:171652172-171652172
23 SYNE2 NM_182914.2(SYNE2): c.19624G> T (p.Gly6542Trp) single nucleotide variant Uncertain significance 14:64685197-64685197 14:64218479-64218479
24 RYR1 NM_000540.2(RYR1): c.10097G> T (p.Arg3366Leu) single nucleotide variant Uncertain significance 19:39009932-39009932 19:38519292-38519292
25 MYOC NM_000261.2(MYOC): c.477A> G (p.Leu159=) single nucleotide variant Likely benign rs61730977 1:171621275-171621275 1:171652135-171652135
26 MYOC NM_000261.2(MYOC): c.39T> G (p.Pro13=) single nucleotide variant Likely benign rs12082573 1:171621713-171621713 1:171652573-171652573
27 MYOC NM_000261.2(MYOC): c.975G> A (p.Thr325=) single nucleotide variant Likely benign rs61730976 1:171605605-171605605 1:171636465-171636465
28 MYOC NM_000261.2(MYOC): c.1188G> A (p.Glu396=) single nucleotide variant Likely benign rs61730975 1:171605392-171605392 1:171636252-171636252
29 MYOC NM_000261.2(MYOC): c.227G> A (p.Arg76Lys) single nucleotide variant Benign/Likely benign rs2234926 1:171621525-171621525 1:171652385-171652385
30 MYOC NM_000261.2(MYOC): c.855G> T (p.Thr285=) single nucleotide variant Benign/Likely benign rs146606638 1:171605725-171605725 1:171636585-171636585
31 MYOC NM_000261.2(MYOC): c.1041T> C (p.Tyr347=) single nucleotide variant Benign/Likely benign rs61730974 1:171605539-171605539 1:171636399-171636399

Copy number variations for Intraocular Pressure Quantitative Trait Locus from CNVD:

7 (show all 14)
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 38426 10 102495457 102579688 Copy number PAX2 Glaucoma
2 61504 12 1 3100000 Copy number TULP3 Glaucoma
3 69805 12 56300000 66000000 Copy number 12orf56 Glaucoma
4 69807 12 56300000 66000000 Copy number RASSF3 Glaucoma
5 69808 12 56300000 66000000 Copy number TBK1 Glaucoma
6 69809 12 56300000 66000000 Copy number XPOT Glaucoma
7 69812 12 56300000 66000000 Duplication Glaucoma
8 88183 14 87469110 87529660 Deletion GALC Glaucoma
9 101484 16 3862993 3941884 Deletion Glaucoma
10 154919 20 5000000 17800000 Copy number PAK7 Glaucoma
11 192610 5 115200000 121500000 Copy number DMXL1 Glaucoma
12 192611 5 115200000 121500000 Copy number DTWD2 Glaucoma
13 203721 6 1 7100000 Copy number FOXC1 Glaucoma
14 203722 4 111758028 111782566 Copy number PITX2 Glaucoma
Sources

Expression for Intraocular Pressure Quantitative Trait Locus

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Search GEO for disease gene expression data for Intraocular Pressure Quantitative Trait Locus.
Sources

Pathways for Intraocular Pressure Quantitative Trait Locus

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Pathways related to Intraocular Pressure Quantitative Trait Locus according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Proximal tubule bicarbonate reclamation 37
10.16 SLC4A4 CA4 CA2
Sources

GO Terms for Intraocular Pressure Quantitative Trait Locus

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Biological processes related to Intraocular Pressure Quantitative Trait Locus according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 kidney development GO:0001822 9.7 TGFB2 FOXC1 CA2
2 visual perception GO:0007601 9.67 WDR36 PAX6 OPA1 CYP1B1
3 camera-type eye development GO:0043010 9.58 PITX2 PAX6 FOXC1
4 neural crest cell development GO:0014032 9.54 FOXC1 EDN1
5 regulation of blood vessel size GO:0050880 9.51 FOXC1 EDN1
6 embryonic camera-type eye morphogenesis GO:0048596 9.49 ZEB1 PAX6
7 cardiac muscle cell proliferation GO:0060038 9.48 TGFB2 FOXC1
8 salivary gland morphogenesis GO:0007435 9.46 TGFB2 PAX6
9 iris morphogenesis GO:0061072 9.43 PITX2 PAX6
10 collagen fibril organization GO:0030199 9.43 TGFB2 FOXC1 CYP1B1
11 bicarbonate transport GO:0015701 9.33 SLC4A4 CA4 CA2
12 lacrimal gland development GO:0032808 9.32 PAX6 FOXC1
13 dorsal/ventral pattern formation GO:0009953 9.13 PAX6 LMX1B EDN1
14 eye development GO:0001654 8.8 TGFB2 PAX6 FOXC1
15 positive regulation of transcription by RNA polymerase II GO:0045944 10.02 ZEB1 PITX2 PAX6 LMX1B FOXC1 EDN1

Molecular functions related to Intraocular Pressure Quantitative Trait Locus according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.86 ZEB1 TGFB2 SLC4A4 SBF2 PITX2 PAX6
2 transcription factor binding GO:0008134 9.46 ZEB1 PITX2 PAX6 FOXC1
3 carbonate dehydratase activity GO:0004089 8.62 CA4 CA2
Sources

Sources for Intraocular Pressure Quantitative Trait Locus

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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