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IOPQTL
MCID: INT323
MIFTS: 62

Intraocular Pressure Quantitative Trait Locus (IOPQTL)

Categories: Eye diseases, Neuronal diseases
Genes Variations Tissues Related diseases Publications Pathways Drugs
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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 56
Glaucoma 56 12 74 29 54 6 42 43 15 62 39 17 32
Glaucoma, Susceptibility to 56
Iopqtl 56

Classifications:

MalaCards categories:
Anatomical: Eye diseases Neuronal diseases
See all MalaCards categories (disease lists)
ICD10: 32


External Ids:

Disease Ontology 12 DOID:1686
OMIM 56 611522
ICD9CM 34 365
MeSH 43 D005901
NCIt 49 C26782
SNOMED-CT 67 23986001
UMLS 71 C0017601
Sources

Summaries for Intraocular Pressure Quantitative Trait Locus

About this section
MedlinePlus : 42 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 3, primary congenital, a. 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 Acetazolamide and Topiramate have been mentioned in the context of this disorder. Affiliated tissues include Eye, testes and endothelial, and related phenotypes are homeostasis/metabolism and digestive/alimentary

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 : 62 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 : 74 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 1264)
# Related Disease Score Top Affiliating Genes
1 glaucoma 1, open angle, a 35.0 OPTN MYOC CYP1B1
2 glaucoma 3, primary congenital, a 35.0 WDR36 PITX2 PAX6 OPTN MYOC FOXC1
3 primary angle-closure glaucoma 35.0 OPTN MYOC CYP1B1
4 chronic closed-angle glaucoma 34.8 TGFB2 MYOC LOXL1
5 early-onset glaucoma 34.8 SBF2 PITX2 MYOC CYP1B1
6 glaucoma-related pigment dispersion syndrome 34.7 WDR36 PITX2 OPTN MYOC LOXL1 LMX1B
7 glaucoma, normal tension 34.7 WDR36 OPTN MYOC LOXL1 FOXC1 EDN1
8 acute closed-angle glaucoma 34.6 OPTN MYOC
9 steroid-induced glaucoma 34.6 WDR36 TGFB2 OPTN MYOC CRYAA
10 traumatic glaucoma 34.6 MYOC CYP1B1
11 glaucoma, primary open angle 34.6 WDR36 TGFB2 PTGFR OPTN MYOC LOXL1
12 open-angle glaucoma 34.6 WDR36 TGFB2 PTGFR OPTN MYOC LOXL1
13 phacogenic glaucoma 34.5 WDR36 TGFB2 OPTN MYOC LOXL1 CRYAA
14 primary congenital glaucoma 34.4 WDR36 PITX2 PAX6 OPTN MYOC LOXL1
15 juvenile glaucoma 34.3 WDR36 PITX2 PAX6 OPTN MYOC LOXL1
16 anterior segment dysgenesis 4 34.0 PITX2 FOXC1 CRYAA
17 peters-plus syndrome 33.8 PITX2 PAX6 MYOC FOXC1 CYP1B1 CRYAA
18 hydrophthalmos 33.5 WDR36 PITX2 PAX6 MYOC FOXC1 CYP1B1
19 axenfeld-rieger syndrome 33.5 WDR36 PITX2 PAX6 MYOC LMX1B FOXC1
20 optic nerve disease 33.4 WDR36 OPTN MYOC EDN1 CRYAA
21 aniridia 1 33.2 PITX2 PAX6 MYOC FOXC1 CYP1B1 CRYAA
22 myopia 33.2 WDR36 TGFB2 PAX6 MYOC CRYAA
23 axenfeld-rieger syndrome, type 1 33.1 PITX2 PAX6 FOXC1 CRYAA
24 megalocornea 33.0 PITX2 MYOC FOXC1 CYP1B1
25 axenfeld-rieger syndrome, type 2 32.9 WDR36 PITX2 FOXC1
26 eye disease 32.9 TGFB2 PAX6 OPTN MYOC LOXL1 CYP1B1
27 nanophthalmos 32.9 WDR36 PAX6 MYOC LOXL1 LMX1B
28 anterior segment dysgenesis 32.9 PITX2 PAX6 MYOC FOXC1 CYP1B1 CRYAA
29 axenfeld-rieger syndrome, type 3 32.8 PITX2 PAX6 FOXC1 CYP1B1 CRYAA
30 coloboma of macula 32.8 PITX2 PAX6 FOXC1 CYP1B1 CRYAA
31 wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 32.8 PITX2 PAX6 FOXC1
32 ocular hypertension 32.6 WDR36 TGFB2 PTGFR OPTN MYOC CRYAA
33 cataract 32.4 TGFB2 SLC4A4 PITX2 PAX6 LOXL1 FOXC1
34 otopalatodigital syndrome, type ii 32.2 PITX2 FOXC1
35 corneal edema 32.0 ZEB1 MYOC CYP1B1
36 keratopathy 31.7 TGFB2 PAX6 CYP1B1
37 keratitis, hereditary 31.5 PITX2 PAX6 MYOC LMX1B FOXC1 CYP1B1
38 retinal disease 31.4 PAX6 OPTN MYOC CRYAA CA4
39 lens subluxation 31.4 PAX6 LOXL1 CRYAA
40 corneal disease 31.4 ZEB1 TGFB2 PITX2 PAX6 FOXC1 CRYAA
41 persistent hyperplastic primary vitreous 31.0 TGFB2 PITX2 PAX6 FOXC1
42 retinitis pigmentosa 30.9 SLC4A4 PITX2 PAX6 MYOC EDN1 CRYAA
43 cornea plana 30.9 PITX2 FOXC1 CRYAA
44 optic nerve hypoplasia, bilateral 30.9 PAX6 MYOC EDN1
45 retinal vascular occlusion 30.8 LOXL1 EDN1 CRYAA
46 sclerocornea 30.7 PAX6 FOXC1 CRYAA
47 excessive tearing 30.7 WDR36 MYOC CYP1B1
48 corneal dystrophy, band-shaped 30.7 SLC4A4 CA2
49 iris disease 30.6 WDR36 PITX2 PAX6 MYOC LOXL1 FOXC1
50 renal tubular acidosis 30.4 SLC4A4 CA4 CA2

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

About this section

Clinical features from OMIM:

611522

MGI Mouse Phenotypes related to Intraocular Pressure Quantitative Trait Locus:

45 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.3 CA2 CA4 CYP1B1 EDN1 FOXC1 LMX1B
2 digestive/alimentary MP:0005381 10.15 CA2 EDN1 FOXC1 LOXL1 PAX6 PITX2
3 nervous system MP:0003631 10.14 CA2 EDN1 FOXC1 LMX1B LOXL1 PAX6
4 craniofacial MP:0005382 10.11 EDN1 FOXC1 LMX1B PAX6 PITX2 SLC4A4
5 embryo MP:0005380 10.08 EDN1 FOXC1 LMX1B PAX6 PITX2 TGFB2
6 muscle MP:0005369 10.03 EDN1 FOXC1 LMX1B PAX6 PITX2 SLC4A4
7 normal MP:0002873 9.97 COCH EDN1 FOXC1 LMX1B MYOC PAX6
8 reproductive system MP:0005389 9.96 CA2 CA4 FOXC1 LOXL1 PAX6 PITX2
9 renal/urinary system MP:0005367 9.87 CA2 EDN1 FOXC1 LMX1B PAX6 SLC4A4
10 respiratory system MP:0005388 9.7 CA2 FOXC1 LOXL1 PAX6 PITX2 TGFB2
11 skeleton MP:0005390 9.61 CA2 EDN1 FOXC1 LMX1B PAX6 PITX2
12 vision/eye MP:0005391 9.36 CA4 CYP1B1 FOXC1 LMX1B LOXL1 MYOC
Sources

Drugs & Therapeutics for Intraocular Pressure Quantitative Trait Locus

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PubMed Health treatment related to Intraocular Pressure Quantitative Trait Locus: 62

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 400)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetazolamide Approved, Vet_approved Phase 4 59-66-5 1986
2
Topiramate Approved Phase 4 97240-79-4 5284627
3
Metformin Approved Phase 4 657-24-9 14219 4091
4
Scopolamine Approved, Investigational Phase 4 6533-68-2, 51-34-3 5184
5
Alogliptin Approved Phase 4 850649-61-5 11450633
6
Pioglitazone Approved, Investigational Phase 4 111025-46-8 4829
7
Glimepiride Approved Phase 4 93479-97-1 3476
8
Latanoprost Approved, Investigational Phase 4 130209-82-4 5311221 5282380
9
Hyaluronic acid Approved, Vet_approved Phase 4 9004-61-9 53477741
10
Dorzolamide Approved Phase 4 120279-96-1 5284549 3154
11
Carteolol Approved Phase 4 51781-06-7 2583
12
Ketorolac Approved Phase 4 66635-83-4, 74103-06-3 3826
13
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 5311068 68602
14
Apraclonidine Approved Phase 4 66711-21-5 2216
15
Levofloxacin Approved, Investigational Phase 4 100986-85-4 149096
16
Ofloxacin Approved Phase 4 82419-36-1 4583
17
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
18
Nepafenac Approved, Investigational Phase 4 78281-72-8 151075
19
Sorbitol Approved Phase 4 50-70-4 5780
20
Loteprednol Approved, Experimental Phase 4 129260-79-3, 82034-46-6 9865442 444025
21
Midazolam Approved, Illicit Phase 4 59467-70-8 4192
22
Tobramycin Approved, Investigational Phase 4 32986-56-4 36294 5496
23
Clonidine Approved Phase 4 4205-90-7 2803
24
Fluticasone Approved, Experimental Phase 4 90566-53-3 62924
25
Nitrous oxide Approved, Vet_approved Phase 4 10024-97-2 948
26
Phenylephrine Approved Phase 4 59-42-7 6041
27
Ephedrine Approved Phase 4 299-42-3 9294
28
Oxymetazoline Approved, Investigational Phase 4 1491-59-4 4636
29
Pseudoephedrine Approved Phase 4 90-82-4 7028
30
Dinoprost Approved, Investigational Phase 4 551-11-1 5283078
31
Dinoprost tromethamine Approved, Vet_approved Phase 4 38562-01-5 5282415
32
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
33
Tropicamide Approved, Investigational Phase 4 1508-75-4 5593
34
Dinoprostone Approved Phase 4 363-24-6 5280360
35
Triazolam Approved, Investigational Phase 4 28911-01-5 5556
36
Opium Approved, Illicit Phase 4 8008-60-4
37
Glycerol Approved, Investigational Phase 4 56-81-5 753
38
Belladonna Approved, Experimental Phase 4
39
Ketamine Approved, Vet_approved Phase 4 6740-88-1 3821
40
Diclofenac Approved, Vet_approved Phase 4 15307-86-5 3033
41
Empagliflozin Approved Phase 4 864070-44-0
42
Dipivefrin Approved Phase 4 52365-63-6 3105
43
Fluorouracil Approved Phase 4 51-21-8 3385
44
tannic acid Approved Phase 4 1401-55-4
45
Benzocaine Approved, Investigational Phase 4 94-09-7, 1994-09-7 2337
46
Bromfenac Approved Phase 4 91714-94-2 60726
47
Cefuroxime Approved Phase 4 55268-75-2 5479529 5361202
48
Histamine Approved, Investigational Phase 4 51-45-6 774
49
Cetirizine Approved Phase 4 83881-51-0 2678
50
Minoxidil Approved, Investigational Phase 4 38304-91-5 4201

Interventional clinical trials:

(show top 50) (show all 1855)
# 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 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 Inject) or Travoprost Ophthalmic Solution 0.004% Unknown status NCT01444040 Phase 4 Travoprost
4 A Prospective Evaluation of Open-angle Glaucoma Subjects on Two Topical Hypotensive Medication Treated With One Suprachoroidal Stent Unknown status NCT01252914 Phase 4
5 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
6 A Study of the Glaukos Trabecular Micro-bypass Stent in Open Angle Glaucoma Subjects 1 Stent Versus 2 Stents Unknown status NCT00326079 Phase 4
7 Evaluation of Safety and Efficacy of Glaucoma Shunt (Aurolab Artificial Drainage Implant) in Refractory Glaucoma Unknown status NCT01401088 Phase 4
8 Relationship Between Topiramate Use and Ocular Angle Status: A Prospective Pilot Study Unknown status NCT00153699 Phase 4 Topiramate
9 Combined Phacoemulsification and Glaucoma Implant Surgery Versus Combined Phacoemulsification and Trabeculectomy: A Randomized Controlled Trial Unknown status NCT00273221 Phase 4
10 Semi-Automated Patterned Laser Trabeculoplasty Unknown status NCT00804323 Phase 4
11 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
12 A Prospective Evaluation of Open-angle Glaucoma Subjects on One Topical Hypotensive Medication (Prostaglandin) Treated With Two Trabecular Micro-bypass Stents (iStent Inject) Unknown status NCT02868190 Phase 4
13 Efficiency of XAL-EASE Device in Glaucoma and/or Ocular Hypertension (OHT) Patients, Treated With Xalatan or Xalacom Unknown status NCT01125306 Phase 4
14 Use of Vascular Endothelial Growth Factor Inhibitor, Bevacizumab to Modulate the Outcomes of Trabeculectomy Surgery Unknown status NCT01229202 Phase 4 Bevacizumab
15 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
16 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
17 Impact of Timolol/Dorzolamide Therapy on Autoregulation in Glaucoma Patients Unknown status NCT02053298 Phase 4 Timolol & Dorzolamide
18 A Prospective Evaluation of Open-angle Glaucoma Subjects on Two Topical Hypotensive Medications (One a Prostaglandin) Treated With Two Trabecular Micro-bypass Stents (iStent Inject) and a Postoperative Topical Prostaglandin Unknown status NCT02873806 Phase 4 Topical travoprost;Tobramycin;Dexamethasone
19 Effect of Prophylactic Aqueous Suppression on Hyperencapsulation of Ahmed Glaucoma Valves Unknown status NCT01535768 Phase 4 Aqueous Suppressant Eye Drops
20 Comparison of the Ahmed Glaucoma Valve FP7 and FP8 in Pediatric Glaucoma: a Randomized Clinical Trial. Unknown status NCT01494974 Phase 4
21 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
22 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
23 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
24 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
25 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
26 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
27 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
28 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
29 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
30 Bleb Vascularity Change After Subconjunctival Injection of Bevacizumab Unknown status NCT00815594 Phase 4 bevacizumab
31 Usefulness Of Flospan As A Premedication For Colonoscopy : A Randomized Double Blind Controlled Trial Unknown status NCT01842932 Phase 4 Phloroglucin;Cimetropium bromide;Placebo
32 Influence of Glidescope Assisted Endotracheal Intubation on Intraocular Presure Unknown status NCT01271621 Phase 4
33 The Effect of "Eye Drop Guide" on the Success Rate of Eye Drops Self-instillation in Glaucoma Patients. Unknown status NCT01704248 Phase 4
34 IntraVitreal Triamcinolone Acetonide: Preventing Raised Eye-pressure by Tracking Elevations After Topical Steroids Unknown status NCT00744666 Phase 4 Prednisolone 1% topical eye drops
35 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.
36 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
37 Management of Active and Established Corneal Neovascularisation to Prevent Visual Impairment Unknown status NCT02594423 Phase 4 Bevacizumab
38 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
39 Bimatoprost 0.03% Solution, NB-UVB and Fractional Carbon Dioxide Laser in Treatment of Generalized Vitiligo Unknown status NCT03487042 Phase 4 Bimatoprost 0.03% ophthalmic solution
40 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
41 Management of Recurrent Pterygium to Prevent Visual Impairment Unknown status NCT02530801 Phase 4 Bevacizumab;5 fluorouracil
42 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
43 A Study of the Glaukos Trabecular Micro-Bypass Stent in Combination With Cataract Surgery in Open Angle Glaucoma Subjects. Completed NCT00326014 Phase 4
44 DuoTrav® Eye Drops As Replacement Therapy Program Completed NCT00828906 Phase 4 DuoTrav
45 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%
46 A Study of the Glaukos Trabecular Micro-Bypass Stent in Refractory Open Angle Glaucoma Subjects. Completed NCT00326040 Phase 4
47 A Prospective Evaluation of Open-angle Glaucoma Subjects on Two Topical Hypotensive Medication Treated With Two Trabecular Micro-bypass Stents Completed NCT01252888 Phase 4
48 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
49 A Prospective Evaluation of Open-angle Glaucoma Subjects on One Topical Hypotensive Medication Treated With Two Trabecular Micro-bypass Stents Completed NCT01252862 Phase 4
50 A Prospective, Unmasked Evaluation of the iStent in Patients With Primary Open-Angle Glaucoma Completed NCT00911924 Phase 4

Search NIH Clinical Center for Intraocular Pressure Quantitative Trait Locus

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:

40
Eye, Testes, Endothelial, Retina, Brain, Thyroid, Skin
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 30203)
# Title Authors PMID Year
1
Review of Hygiene and Disinfection Recommendations for Outpatient Glaucoma Care: A COVID Era Update. 42 61
32332334 2020
2
The Effect of a Reminder Short Message Service on the Uptake of Glaucoma Screening by First-Degree Relatives of Glaucoma Patients: A Randomized Controlled Trial. 61 42
32153330 2019
3
Identification of novel genetic loci for intraocular pressure: a genomewide scan of the Beaver Dam Eye Study. 56
17210855 2007
4
The efficacy of the fixed combination of latanoprost and timolol versus other fixed combinations for primary open-angle glaucoma and ocular hypertension: A systematic review and meta-analysis. 42
32106236 2020
5
Development of a gene therapy virus with a glucocorticoid-inducible MMP1 for the treatment of steroid glaucoma. 61 54
20089870 2010
6
Rescue of glaucoma-causing mutant myocilin thermal stability by chemical chaperones. 61 54
20334347 2010
7
Little evidence for association of the glaucoma gene MYOC with open-angle glaucoma. 61 54
20447966 2010
8
Major LOXL1 risk allele is reversed in exfoliation glaucoma in a black South African population. 61 54
20431720 2010
9
Posttranslational modifications, localization, and protein interactions of optineurin, the product of a glaucoma gene. 54 61
20161783 2010
10
OPA1 increases the risk of normal but not high tension glaucoma. 54 61
19581274 2010
11
Lysyl oxidase-like 1 gene polymorphisms in German patients with normal tension glaucoma, pigmentary glaucoma and exfoliation glaucoma. 61 54
19373106 2010
12
Ethnicity-based subgroup meta-analysis of the association of LOXL1 polymorphisms with glaucoma. 54 61
20142848 2010
13
Differential effects of myocilin and optineurin, two glaucoma genes, on neurite outgrowth. 61 54
19959812 2010
14
Regulation of endocytic trafficking of transferrin receptor by optineurin and its impairment by a glaucoma-associated mutant. 54 61
20085643 2010
15
Evaluation of MMP1 and MMP3 gene polymorphisms in exfoliation syndrome and exfoliation glaucoma. 61 54
20038976 2009
16
[New developments in glaucoma medical treatment]. 61 54
19902393 2009
17
Evaluation of nine candidate genes in patients with normal tension glaucoma: a case control study. 61 54
19754948 2009
18
CYP1B1, a developmental gene with a potential role in glaucoma therapy. 54 61
19622003 2009
19
Sequence analysis of MYOC and CYP1B1 in a Chinese pedigree of juvenile glaucoma with goniodysgenesis. 61 54
19668597 2009
20
Genetic risk for primary open-angle glaucoma determined by LMX1B haplotypes. 61 54
18952915 2009
21
Molecular pathology of pseudoexfoliation syndrome/glaucoma--new insights from LOXL1 gene associations. 54 61
18809397 2009
22
Glaucoma-associated myocilin: a better understanding but much more to learn. 54 61
18804106 2009
23
Investigation of the association between the GLC3A locus and normal tension glaucoma in Japanese patients by microsatellite analysis. 54 61
19668563 2009
24
Overexpression of myocilin in the Drosophila eye activates the unfolded protein response: implications for glaucoma. 61 54
19148291 2009
25
Optineurin and its mutants: molecules associated with some forms of glaucoma. 54 61
19672125 2009
26
[Two variants in MYOC and CYP1B1 genes in a Chinese family with primary angle-closure glaucoma]. 54 61
18841557 2008
27
Matrix metalloproteinases and their tissue inhibitors after selective laser trabeculoplasty in pseudoexfoliative secondary glaucoma. 61 54
18939999 2008
28
Two novel myocilin mutations in a Chinese family with primary open-angle glaucoma. 61 54
18776955 2008
29
Transthyretin and complex protein pattern in aqueous humor of patients with primary open-angle glaucoma. 61 54
18682810 2008
30
Evaluation of LOXL1 polymorphisms in eyes with exfoliation glaucoma in Japanese. 54 61
18648524 2008
31
Late-onset bilateral lens dislocation and glaucoma associated with a novel mutation in FBN1. 54 61
18615205 2008
32
LOXL1 genetic polymorphisms are associated with exfoliation glaucoma in the Japanese population. 54 61
18552979 2008
33
Role of the ETB receptor in retinal ganglion cell death in glaucoma. 61 54
18516102 2008
34
Leu432Val polymorphism in CYP1B1 as a susceptible factor towards predisposition to primary open-angle glaucoma. 54 61
18483560 2008
35
Lysyl oxidase-like protein 1 (LOXL1) gene polymorphisms and exfoliation glaucoma in a Central European population. 61 54
18483563 2008
36
Sera of glaucoma patients show autoantibodies against myelin basic protein and complex autoantibody profiles against human optic nerve antigens. 61 54
18193265 2008
37
Evaluation of LOXL1 gene polymorphisms in exfoliation syndrome and exfoliation glaucoma. 54 61
18385788 2008
38
Myocilin allele-specific glaucoma phenotype database. 61 54
17966125 2008
39
Role of CYP1B1 in glaucoma. 54 61
17914928 2008
40
Evaluation of LOXL1 polymorphisms in primary open-angle glaucoma in southern and northern Chinese. 61 54
19098994 2008
41
[A novel mutation in the myocilin gene identified in a Chinese primary open angle glaucoma family]. 54 61
18067072 2007
42
Mitochondrial association of myocilin, product of a glaucoma gene, in human trabecular meshwork cells. 54 61
17516541 2007
43
Glaucoma-associated CYP1B1 mutations share similar haplotype backgrounds in POAG and PACG phenotypes. 61 54
18055790 2007
44
Embryonic expression of the optineurin (glaucoma) gene in different stages of mouse development. 61 54
17893645 2007
45
Interaction between two glaucoma genes, optineurin and myocilin. 54 61
17663725 2007
46
Presence of an established calcification marker in trabecular meshwork tissue of glaucoma donors. 54 61
17591888 2007
47
Novel LMX1B mutation in familial nail-patella syndrome with variable expression of open angle glaucoma. 54 61
17515884 2007
48
Effects of TGF-beta2, BMP-4, and gremlin in the trabecular meshwork: implications for glaucoma. 54 61
17325163 2007
49
Glaucoma-causing myocilin mutants require the Peroxisomal targeting signal-1 receptor (PTS1R) to elevate intraocular pressure. 54 61
17317787 2007
50
Investigation of the association between normal-tension glaucoma and single nucleotide polymorphisms in natriuretic peptide gene. 61 54
17460430 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 top 50) (show all 53) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ZEB1 NM_030751.6(ZEB1):c.973C>T (p.Arg325Ter)SNV Pathogenic 374184 rs1057518956 10:31809236-31809236 10:31520308-31520308
2 CREBBP NM_004380.3(CREBBP):c.3698G>A (p.Arg1233Lys)SNV Likely pathogenic 374025 rs1057518844 16:3807289-3807289 16:3757288-3757288
3 MYOC NM_000261.2(MYOC):c.823A>T (p.Lys275Ter)SNV risk factor 252960 rs879255525 1:171605757-171605757 1:171636617-171636617
4 MYOC NM_000261.2(MYOC):c.227G>A (p.Arg76Lys)SNV Conflicting interpretations of pathogenicity 193066 rs2234926 1:171621525-171621525 1:171652385-171652385
5 MYOC NM_000261.2(MYOC):c.855G>T (p.Thr285=)SNV Conflicting interpretations of pathogenicity 196241 rs146606638 1:171605725-171605725 1:171636585-171636585
6 MYOC NM_000261.2(MYOC):c.1193A>G (p.Lys398Arg)SNV Conflicting interpretations of pathogenicity 403218 rs56314834 1:171605387-171605387 1:171636247-171636247
7 SYNE2 NM_182914.2(SYNE2):c.19624G>T (p.Gly6542Trp)SNV Uncertain significance 598975 rs746433383 14:64685197-64685197 14:64218479-64218479
8 RYR1 NM_000540.2(RYR1):c.10097G>T (p.Arg3366Leu)SNV Uncertain significance 598974 rs137932199 19:39009932-39009932 19:38519292-38519292
9 MYOC NM_000261.2(MYOC):c.1408C>T (p.Arg470Cys)SNV Uncertain significance 875032 1:171605172-171605172 1:171636032-171636032
10 MYOC NM_000261.2(MYOC):c.*273G>ASNV Uncertain significance 874097 1:171604792-171604792 1:171635652-171635652
11 MYOC NM_000261.2(MYOC):c.1345G>A (p.Val449Ile)SNV Uncertain significance 875033 1:171605235-171605235 1:171636095-171636095
12 MYOC NM_000261.2(MYOC):c.1272G>C (p.Gln424His)SNV Uncertain significance 875954 1:171605308-171605308 1:171636168-171636168
13 MYOC NM_000261.2(MYOC):c.1053C>T (p.Thr351=)SNV Uncertain significance 875956 1:171605527-171605527 1:171636387-171636387
14 MYOC NM_000261.2(MYOC):c.801T>C (p.Tyr267=)SNV Uncertain significance 875083 1:171605779-171605779 1:171636639-171636639
15 MYOC NM_000261.2(MYOC):c.652G>A (p.Glu218Lys)SNV Uncertain significance 875084 1:171607815-171607815 1:171638675-171638675
16 MYOC NM_000261.2(MYOC):c.612G>A (p.Thr204=)SNV Uncertain significance 876021 1:171607855-171607855 1:171638715-171638715
17 MYOC NM_000261.2(MYOC):c.611C>T (p.Thr204Met)SNV Uncertain significance 876022 1:171607856-171607856 1:171638716-171638716
18 MYOC NM_000261.2(MYOC):c.600A>G (p.Arg200=)SNV Uncertain significance 876999 1:171621152-171621152 1:171652012-171652012
19 MYOC NM_000261.2(MYOC):c.573T>A (p.Thr191=)SNV Uncertain significance 877000 1:171621179-171621179 1:171652039-171652039
20 MYOC NM_000261.2(MYOC):c.473G>A (p.Arg158Gln)SNV Uncertain significance 874204 1:171621279-171621279 1:171652139-171652139
21 MYOC NM_000261.2(MYOC):c.369C>T (p.Thr123=)SNV Uncertain significance 874205 1:171621383-171621383 1:171652243-171652243
22 MYOC NM_000261.2(MYOC):c.31T>C (p.Phe11Leu)SNV Uncertain significance 877041 1:171621721-171621721 1:171652581-171652581
23 46;XX;t(X;22)(q13;q13)Translocation Uncertain significance 267877
24 MYOC NM_000261.2(MYOC):c.*241A>GSNV Uncertain significance 293704 rs186880389 1:171604824-171604824 1:171635684-171635684
25 MYOC NM_000261.2(MYOC):c.*71G>ASNV Uncertain significance 293707 rs886045564 1:171604994-171604994 1:171635854-171635854
26 MYOC NM_000261.2(MYOC):c.871G>A (p.Val291Ile)SNV Uncertain significance 293712 rs886045565 1:171605709-171605709 1:171636569-171636569
27 MYOC NM_000261.2(MYOC):c.648G>A (p.Lys216=)SNV Uncertain significance 293715 rs141584495 1:171607819-171607819 1:171638679-171638679
28 MYOC NM_000261.2(MYOC):c.335A>G (p.Glu112Gly)SNV Uncertain significance 293719 rs886045566 1:171621417-171621417 1:171652277-171652277
29 MYOC NM_000261.2(MYOC):c.304T>A (p.Leu102Met)SNV Uncertain significance 293720 rs140017103 1:171621448-171621448 1:171652308-171652308
30 MYOC NM_000261.2(MYOC):c.239C>A (p.Thr80Asn)SNV Uncertain significance 293721 rs886045567 1:171621513-171621513 1:171652373-171652373
31 MYOC NM_000261.2(MYOC):c.114G>A (p.Arg38=)SNV Uncertain significance 293723 rs767644139 1:171621638-171621638 1:171652498-171652498
32 MYOC NM_000261.2(MYOC):c.*426C>TSNV Uncertain significance 293702 rs142425726 1:171604639-171604639 1:171635499-171635499
33 MYOC NM_000261.2(MYOC):c.*331A>GSNV Uncertain significance 293703 rs548121911 1:171604734-171604734 1:171635594-171635594
34 MYOC NM_000261.2(MYOC):c.*188C>TSNV Uncertain significance 293705 rs886045562 1:171604877-171604877 1:171635737-171635737
35 MYOC NM_000261.2(MYOC):c.992C>T (p.Ser331Leu)SNV Uncertain significance 293710 rs775982158 1:171605588-171605588 1:171636448-171636448
36 MYOC NM_000261.2(MYOC):c.568G>T (p.Asp190Tyr)SNV Uncertain significance 293716 rs201930435 1:171621184-171621184 1:171652044-171652044
37 MYOC NM_000261.2(MYOC):c.224A>G (p.Gln75Arg)SNV Uncertain significance 293722 rs886045568 1:171621528-171621528 1:171652388-171652388
38 MYOC NM_000261.2(MYOC):c.865G>A (p.Asp289Asn)SNV Uncertain significance 293713 rs767627671 1:171605715-171605715 1:171636575-171636575
39 MYOC NM_000261.2(MYOC):c.728C>A (p.Thr243Asn)SNV Uncertain significance 293714 rs781655611 1:171607739-171607739 1:171638599-171638599
40 MYOC NM_000261.2(MYOC):c.*182C>ASNV Uncertain significance 293706 rs886045563 1:171604883-171604883 1:171635743-171635743
41 MYOC NM_000261.2(MYOC):c.440G>A (p.Arg147Gln)SNV Uncertain significance 293718 rs114283307 1:171621312-171621312 1:171652172-171652172
42 MYOC NM_000261.2(MYOC):c.1041T>C (p.Tyr347=)SNV Benign/Likely benign 293709 rs61730974 1:171605539-171605539 1:171636399-171636399
43 MYOC NM_000261.2(MYOC):c.1188G>A (p.Glu396=)SNV Benign/Likely benign 293708 rs61730975 1:171605392-171605392 1:171636252-171636252
44 MYOC NM_000261.2(MYOC):c.136C>T (p.Arg46Ter)SNV Benign/Likely benign 7955 rs74315337 1:171621616-171621616 1:171652476-171652476
45 MYOC NM_000261.2(MYOC):c.34G>C (p.Gly12Arg)SNV Benign/Likely benign 876089 1:171621718-171621718 1:171652578-171652578
46 MYOC NM_000261.2(MYOC):c.864C>T (p.Ile288=)SNV Benign/Likely benign 874154 1:171605716-171605716 1:171636576-171636576
47 MYOC NM_000261.2(MYOC):c.612G>T (p.Thr204=)SNV Benign/Likely benign 728934 1:171607855-171607855 1:171638715-171638715
48 MYOC NM_000261.2(MYOC):c.1054G>A (p.Glu352Lys)SNV Benign 875955 1:171605526-171605526 1:171636386-171636386
49 MYOC NM_000261.2(MYOC):c.*73G>CSNV Benign 875031 1:171604992-171604992 1:171635852-171635852
50 MYOC NM_000261.2(MYOC):c.624C>G (p.Asp208Glu)SNV Benign 876020 1:171607843-171607843 1:171638703-171638703

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

7 (show all 14)
# CNVD ID Chromosome 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.
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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 36
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 13)
# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.73 WDR36 PAX6 CYP1B1 CRYAA
2 kidney development GO:0001822 9.7 TGFB2 FOXC1 CA2
3 camera-type eye development GO:0043010 9.58 PITX2 PAX6 FOXC1
4 embryonic camera-type eye morphogenesis GO:0048596 9.51 ZEB1 PAX6
5 cardiac muscle cell proliferation GO:0060038 9.49 TGFB2 FOXC1
6 salivary gland morphogenesis GO:0007435 9.48 TGFB2 PAX6
7 iris morphogenesis GO:0061072 9.46 PITX2 PAX6
8 eye development GO:0001654 9.43 TGFB2 PAX6 FOXC1
9 positive regulation of core promoter binding GO:1904798 9.37 PAX6 FOXC1
10 dorsal/ventral pattern formation GO:0009953 9.33 PAX6 LMX1B EDN1
11 lacrimal gland development GO:0032808 9.32 PAX6 FOXC1
12 bicarbonate transport GO:0015701 9.13 SLC4A4 CA4 CA2
13 collagen fibril organization GO:0030199 8.92 TGFB2 LOXL1 FOXC1 CYP1B1

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 10.09 ZEB1 WDR36 TGFB2 SLC4A4 SBF2 PITX2
2 hydro-lyase activity GO:0016836 8.96 CA4 CA2
3 carbonate dehydratase activity GO:0004089 8.62 CA4 CA2
Sources

Sources for Intraocular Pressure Quantitative Trait Locus

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 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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