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MCID: OPN001
MIFTS: 55

Open-Angle Glaucoma

Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Drugs
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Aliases & Classifications for Open-Angle Glaucoma

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MalaCards integrated aliases for Open-Angle Glaucoma:

Name: Open-Angle Glaucoma 12 15 17
Glaucoma, Open-Angle 44 71
Open Angle Glaucoma 12 6
Pigmentary Glaucoma 12
Wide-Angle Glaucoma 12
Glaucoma Open-Angle 54
Glaucoma Simplex 12

Classifications:

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


External Ids:

Disease Ontology 12 DOID:1067
ICD9CM 34 365.1
MeSH 44 D005902
NCIt 50 C34641
SNOMED-CT 67 84494001
ICD10 32 H40.1
UMLS 71 C0017612
Sources

Summaries for Open-Angle Glaucoma

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Disease Ontology : 12 A glaucoma characterized by optic nerve damage resulting in progressive loss of visual field and increased pressure in the eye due to trabecular blockage.

MalaCards based summary : Open-Angle Glaucoma, also known as glaucoma, open-angle, is related to glaucoma 1, open angle, a and intraocular pressure quantitative trait locus. An important gene associated with Open-Angle Glaucoma is MYOC (Myocilin), and among its related pathways/superpathways are Degradation of the extracellular matrix and Elastic fibre formation. The drugs Trimethoprim and Polymyxin B have been mentioned in the context of this disorder. Affiliated tissues include eye, retina and endothelial, and related phenotype is vision/eye.

Sources

Related Diseases for Open-Angle Glaucoma

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Diseases in the Open-Angle Glaucoma family:

Glaucoma 1, Open Angle, a Glaucoma, Primary Open Angle
Glaucoma 1, Open Angle, P Glaucoma 1, Primary Open Angle, C
Glaucoma 1, Open Angle, D Glaucoma 1, Open Angle, F
Glaucoma 1, Open Angle, B Glaucoma 1, Open Angle, J
Glaucoma 1, Open Angle, K Glaucoma 1, Open Angle, I
Glaucoma 1, Open Angle, G Glaucoma 1, Open Angle, M
Glaucoma 1, Open Angle, N Glaucoma 1, Open Angle, H
Glaucoma 1, Open Angle, O

Diseases related to Open-Angle Glaucoma via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 381)
# Related Disease Score Top Affiliating Genes
1 glaucoma 1, open angle, a 33.6 OPTN MYOC CYP1B1
2 intraocular pressure quantitative trait locus 33.3 WDR36 TMCO1 TGFB2 OPTN OPA1 MYOC
3 glaucoma, primary open angle 33.1 WDR36 TMCO1 TGFB2 TBK1 OPTN OPTC
4 exfoliation syndrome 32.9 MMP1 LTBP2 LOXL1 ELN
5 early-onset glaucoma 32.9 MYOC CYP1B1
6 glaucoma, normal tension 32.8 WDR36 TMCO1 TBK1 OPTN OPTC OPA1
7 ocular hypertension 32.7 TMCO1 TGFB2 OPTN MYOC CRYAA
8 juvenile glaucoma 32.7 WDR36 OPTN MYOC LTBP2 LOXL1 CYP1B1
9 axenfeld-rieger syndrome 32.5 WDR36 OPTN MYOC LTBP2 LMX1B CYP1B1
10 optic nerve disease 32.2 WDR36 OPTN OPA1 MYOC ELN CRYAA
11 myopia 32.1 WDR36 TGFB2 OPTC MYOC MMP1 LTBP2
12 primary angle-closure glaucoma 32.0 OPTN MYOC CYP1B1
13 eye disease 31.7 TGFB2 OPTN MYOC MMP1 CYP1B1 CRYAA
14 primary congenital glaucoma 31.7 WDR36 OPTN NTF4 MYOC LTBP2 LOXL1
15 chronic closed-angle glaucoma 31.6 TGFB2 MYOC LOXL1
16 glaucoma 3, primary congenital, a 31.5 WDR36 OPTN MYOC LTBP2 CYP1B1
17 corneal edema 31.4 MYOC MMP1 LTBP2 CYP1B1
18 macular degeneration, age-related, 1 31.3 TGFB2 OPTC MYOC LOXL1 ELN CRYAA
19 glaucoma-related pigment dispersion syndrome 31.3 WDR36 TMCO1 OPTN MYOC LOXL1 LMX1B
20 neovascular glaucoma 31.3 TGFB2 MYOC CRYAA
21 steroid-induced glaucoma 31.2 WDR36 TGFB2 MYOC ELN CYP1B1 CRYAA
22 leber hereditary optic neuropathy, modifier of 31.0 WDR36 OPA1 MYOC CRYAA
23 glaucoma 1, open angle, d 31.0 OPTN MYOC LTBP2 LOC108903148 CYP1B1 CARD10
24 megalocornea 31.0 WDR36 MYOC LTBP2 CYP1B1
25 keratitis, hereditary 31.0 MYOC LMX1B CYP1B1 CRYAA
26 lens subluxation 30.8 LTBP2 LOXL1 CRYAA
27 acute closed-angle glaucoma 30.8 OPTN MYOC CYP1B1
28 traumatic glaucoma 30.8 TMCO1 MYOC LTBP2 LOXL1 CYP1B1
29 macular holes 30.8 TGFB2 OPTC CRYAA
30 retinal disease 30.8 OPTN OPTC MYOC CRYAA
31 glaucoma 3, primary infantile, b 30.7 LTBP2 CYP1B1
32 amyotrophic lateral sclerosis 1 30.7 TBK1 OPTN NTF4 LOC108903148 CRYAA CAMK1D
33 anterior segment dysgenesis 30.6 WDR36 TMCO1 MYOC LTBP2 LMX1B CYP1B1
34 iris disease 30.6 WDR36 MYOC LTBP2 LOXL1 ELN CYP1B1
35 marfan syndrome 30.6 TGFB2 MMP1 LTBP2 LOXL1 ELN
36 retinal vascular occlusion 30.4 OPTC LOXL1 CRYAA
37 glaucoma 1, open angle, p 11.7
38 glaucoma 1, open angle, f 11.7
39 residual stage of open angle glaucoma 11.6
40 glaucoma 1, open angle, g 11.6
41 glaucoma 1, open angle, o 11.6
42 yemenite deaf-blind hypopigmentation syndrome 11.2
43 phacolytic glaucoma 11.2
44 cataract 11.1
45 refractive error 10.9
46 neuropathy 10.7
47 scotoma 10.6
48 uveitis 10.6
49 retinal vascular disease 10.6
50 hypothyroidism 10.6

Comorbidity relations with Open-Angle Glaucoma via Phenotypic Disease Network (PDN):


Anatomical Narrow Angle Borderline Glaucoma Glaucoma, Primary Open Angle
Hypertension, Essential Ocular Hypotension

Graphical network of the top 20 diseases related to Open-Angle Glaucoma:



Diseases related to Open-Angle Glaucoma
Sources

Symptoms & Phenotypes for Open-Angle Glaucoma

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MGI Mouse Phenotypes related to Open-Angle Glaucoma:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 9.32 CAMK1D CYP1B1 LMX1B LOXL1 LTBP2 MYOC
Sources

Drugs & Therapeutics for Open-Angle Glaucoma

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Drugs for Open-Angle Glaucoma (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 198)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Trimethoprim Approved, Vet_approved Phase 4 738-70-5 5578
2
Polymyxin B Approved, Vet_approved Phase 4 1404-26-8
3
Latanoprost Approved, Investigational Phase 4 130209-82-4 5282380 5311221
4
Bimatoprost Approved, Investigational Phase 4 155206-00-1 5311027
5
Tobramycin Approved, Investigational Phase 4 32986-56-4 5496 36294
6
Apraclonidine Approved Phase 4 66711-21-5 2216
7
Sorbitol Approved Phase 4 50-70-4 5780
8
Loteprednol Approved, Experimental Phase 4 129260-79-3, 82034-46-6 444025 9865442
9
Fluticasone Approved, Experimental Phase 4 90566-53-3 62924
10
Fluorouracil Approved Phase 4 51-21-8 3385
11
Dorzolamide Approved Phase 4 120279-96-1 3154 5284549
12
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4 1177-87-3
13
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 5743
14
Cefuroxime Approved Phase 4 55268-75-2 5361202 5479529
15
tannic acid Approved Phase 4 1401-55-4
16
Benzocaine Approved, Investigational Phase 4 1994-09-7, 94-09-7 2337
17
Brinzolamide Approved Phase 4 138890-62-7 68844
18
Bevacizumab Approved, Investigational Phase 4 216974-75-3
19
Lutein Approved, Investigational, Nutraceutical Phase 4 127-40-2 5281243
20
Maleic acid Experimental Phase 4 110-16-7 444266
21 Polymyxins Phase 4
22 Anti-Infective Agents, Local Phase 4
23 Benzalkonium Compounds Phase 4
24 Brimonidine Tartrate, Timolol Maleate Drug Combination Phase 4
25 Anti-Asthmatic Agents Phase 4
26 Respiratory System Agents Phase 4
27 Dermatologic Agents Phase 4
28 Anti-Allergic Agents Phase 4
29 Bronchodilator Agents Phase 4
30 Dextrans Phase 4
31 Plasma Substitutes Phase 4
32 Blood Substitutes Phase 4
33 Anticoagulants Phase 4
34 Immunologic Factors Phase 4
35 Anti-Inflammatory Agents Phase 4
36 Immunosuppressive Agents Phase 4
37 Hormones Phase 4
38 Hormone Antagonists Phase 4
39 glucocorticoids Phase 4
40 Antimetabolites Phase 4
41 Gastrointestinal Agents Phase 4
42 Antineoplastic Agents, Hormonal Phase 4
43 Antiemetics Phase 4
44 Ophthalmic Solutions Phase 4
45 Anesthetics Phase 4
46 Lubricant Eye Drops Phase 4
47 cefuroxime axetil Phase 4
48 Carotenoids Phase 4
49 Pharmaceutical Solutions Phase 4
50 Adrenergic alpha-Agonists Phase 4

Interventional clinical trials:

(show top 50) (show all 749)
# Name Status NCT ID Phase Drugs
1 Impact of Timolol/Dorzolamide Therapy on Autoregulation in Glaucoma Patients Unknown status NCT02053298 Phase 4 Timolol & Dorzolamide
2 A Prospective Evaluation of Open-angle Glaucoma Subjects on Two Topical Hypotensive Medication Treated With One Suprachoroidal Stent Unknown status NCT01252914 Phase 4
3 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
4 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
5 A Study of the Glaukos Trabecular Micro-bypass Stent in Open Angle Glaucoma Subjects 1 Stent Versus 2 Stents Unknown status NCT00326079 Phase 4
6 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
7 Semi-Automated Patterned Laser Trabeculoplasty Unknown status NCT00804323 Phase 4
8 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
9 A Prospective Evaluation of Mild to Moderate Open-Angle Glaucoma Subjects With Cataract Treated With Cataract Surgery Plus One Trabecular Micro-bypass Stent and One Suprachoroidal Stent Unknown status NCT03255785 Phase 4
10 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
11 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
12 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
13 Prospective, Randomized, Single-Center Study to Evaluate 24-hour Intraocular Pressure Control With Brinzolamide 1%/Brimonidine 0.2% Fixed Dose Combination Therapy Completed NCT01978600 Phase 4 Brinzolamide 1%/Brimonidine 0.2% ophthalmic suspension;Timolol Maleate 0.5%
14 A Single Dose Comfort Comparison of Travatan Z in One Eye Versus Xalatan in the Opposite Eye in Patients With Primary Open-Angle Glaucoma or Ocular Hypertension Completed NCT00527592 Phase 4 Travoprost ophthalmic solution 0.004% with SofZia® preservative system (TRAVATAN Z®);Latanoprost ophthalmic solution 0.005% (XALATAN®)
15 Examination of Ocular Surface Effects With Administration of TRAVATAN Z® and XALATAN® Completed NCT00798759 Phase 4 Travoprost ophthalmic solution 0.004% with SofZia® preservative system (TRAVATAN Z®);Latanoprost ophthalmic solution 0.005% (XALATAN®)
16 Ocular Surface Conditions in Asian Glaucoma Patients With Existing Corneal Disorders Switching From Preserved Prostaglandin Analogues Monotherapy to Preservative-free Tafluprost Completed NCT04654611 Phase 4 preservative free tafluprost 0.0015%
17 Efficacy and Tolerability of Preservative-free 0.0015% Tafluprost in Glaucoma Patients Completed NCT03104621 Phase 4 Benzalkonium chloride (BAK);0.0015% tafluprost
18 Subconjunctival Versus Direct Scleral Application of Mitomycin-C in Trabeculectomy Completed NCT04352660 Phase 4 Mitomycin-C injection;Mitomycin-C sponge
19 Comparative Evaluation of Intraocular Pressure During the 24 Hour in Patients Affected by Primary Open-angle Glaucoma and Ocular Hypertension: Latanoprost 0.005% Versus Tafluprost 0.0015% Ophthalmic Solutions Completed NCT01162603 Phase 4 TAFLUPROST 0.0015% EYEDROPS;LATANOPROST 0.005% EYEDROPS
20 24-hour IOP-lowering Effect of Brimonidine 0.1% Completed NCT00457795 Phase 4 brimonidine 0.1% (Alphagan® P)
21 Efficacy and Safety of Timolol Maleate 0.5% Compared to Brinzolamide 1% When Added to Travoprost 0.004% in Primary Open-angle Glaucoma or Ocular Hypertension Completed NCT00372827 Phase 4 Brinzolamide 1% added to Travoprost 0.004%
22 Influence of Travoprost 0.004% and Latanoprost 0.005% on Retinal Vascular Diameter and Choroidal Blood Flow in Glaucoma Patients Completed NCT00308945 Phase 4 travoprost 0.004% (drug);latanoprost 0.005% (drug)
23 A Multiple-Dose Study of the IOP-Lowering Efficacy of Azopt 1.0% Compared to Timolol 0.5% When Added to a PGA as Adjunctive Therapy Over a 24 Hour Period in Patients With Glaucoma or Ocular Hypertension Completed NCT00300079 Phase 4 brinzolamide 1.0%
24 Central Corneal Thickness and 24-hour Fluctuation of Intraocular Pressure Completed NCT00941525 Phase 4 Latanoprost
25 Patient Preference Comparison of AZARGA Versus COSOPT in Patients With Open-Angle Glaucoma or Ocular Hypertension Completed NCT01340014 Phase 4 Brinzolamide 1.0% + Timolol 0.5% ophthalmic suspension;Dorzolamide 2.0% + Timolol 0.5% ophthalmic solution
26 Assessing the Efficacy and Tolerability of Changing to DUOTRAV® (Travoprost 0.004%/Timolol 0.5% BAK-Free Fixed Combination), as Replacement Therapy in Patients Previously on Bimatoprost 0.03%/Timolol 0.5% Therapy (Fixed or Unfixed) Completed NCT01327599 Phase 4 Travoprost 0.004%+Timolol 0.5% ophthalmic solution
27 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 Completed NCT02017327 Phase 4 Monoprost;Lumigan 0.01%;Lumigan 0.03% Unit Dose
28 Prospective, Randomized, Multi-Center Study to Evaluate the Efficacy and Tolerability of DuoTrav® in Patients Previously Uncontrolled on a Beta-blocker Completed NCT02003391 Phase 4 Beta-blocker monotherapy;Travoprost 0.004% / timolol 0.5% fixed combination ophthalmic solution
29 A Study of the Glaukos Trabecular Micro-Bypass Stent in Refractory Open Angle Glaucoma Subjects. Completed NCT00326040 Phase 4
30 A Study of the Glaukos Trabecular Micro-Bypass Stent in Combination With Cataract Surgery in Open Angle Glaucoma Subjects. Completed NCT00326014 Phase 4
31 Latanoprost Versus Fotil Completed NCT00304785 Phase 4 latanoprost 0.005%;Fotil;placebo
32 ELAZOP Switching Study in Korea Completed NCT01055366 Phase 4 Elazop (Azarga)
33 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
34 Phase IV Randomised Double-masked Clinical Trial: Assessing Morning Versus Evening Dosing of a Fixed Dose Combination of Travoprost 0.004% / Timolol Maleate 0.5% in Patients With Primary Open-angle Glaucoma or Ocular Hypertension Completed NCT00759239 Phase 4 Travoprost 0.004% / Timolol maleate 0.5%;Travoprost 0.004% / Timolol maleate 0.5%
35 A Prospective Evaluation of Open-angle Glaucoma Subjects on Two Topical Hypotensive Medication Treated With Two Trabecular Micro-bypass Stents Completed NCT01252888 Phase 4
36 A Prospective Evaluation of Open-angle Glaucoma Subjects on One Topical Hypotensive Medication Treated With Two Trabecular Micro-bypass Stents Completed NCT01252862 Phase 4
37 Post Market Multicentric Evaluation of the AqueSys XEN Implant in Moderate Primary Open Angle Glaucoma Subjects Completed NCT02006693 Phase 4
38 24-hour IOP With DTFC and LTFC Monotherapies and the Adjunctive Therapy of DTFC and Latanoprost in Open-angle Glaucoma Insufficiently Controlled With Latanoprost Monotherapy. Completed NCT00397241 Phase 4 Drug: dorzolamide/timolol;Drug: latanoprost/timolol;dorzolamide/timolol and latanoprost;placebo (artificial tears)
39 24-Hour Intraocular Pressure (IOP) And Blood Pressure Control In Glaucoma And Ocular Hypertension Patients Completed NCT00330577 Phase 4 timolol maleate 0.5%;latanoprost/timolol fixed combination;placebo (artificial tears)
40 Cosopt Versus Xalacom Completed NCT00273481 Phase 4 dorzolamide 2%/timolol maleate 0.5% fixed combination;latanoprost 0.005%/timolol maleate 0.5% fixed combination;timolol maleate 0.5%;placebo
41 Cosopt Versus Xalatan Completed NCT00273429 Phase 4 timolol maleate 0.5%;dorzolamide/timolol maleate fixed combination;latanoprost 0.005%;placebo
42 An Open, Non-randomized Pilot Study on the Effect of Preservative Free Tafluprost (Saflutan® Augentropfen) in Patients With Ocular Hypertension or Primary Open Angle Glaucoma With an Uncontrolled Intraocular Pressure of 30 mmHg and More Completed NCT01979913 Phase 4 Saflutan® 15 microgram/ml Augentropfen im Einzeldosisbehältnis
43 Phase IV Study of Micropulse Laser Trabeculoplasty Versus Selective Laser Trabeculoplasty for Treatment of Open Angle Glaucoma Completed NCT01956942 Phase 4
44 Lumigan Versus Cosopt Completed NCT00273455 Phase 4 bimatoprost 0.03%;dorzolamide 2%/timolol maleate 0.5% fixed combination;placebo
45 Phase 4 Study to Evaluate Efficacy And Safety of Pneumatic Trabeculoplasty (PNT) in Subjects Affected by Primary Open Angle Glaucoma Completed NCT01540331 Phase 4
46 Multi-Center Study Comparing Efficacy and Tolerability of TRAVATAN® BAK-free (0.004% Travoprost) in Patients Previously on Latanoprost Ophthalmic Solution 0.005% Monotherapy Completed NCT01510145 Phase 4 Travoprost 0.004% BAK-free
47 Comparison of Brimonidine 0.15% Purite, Dorzolamide 2%, and Brinzolamide 1% as Adjunctive Therapy to Prostaglandin Analogs Completed NCT00675207 Phase 4 Brimonidine purite 0.15%;Dorzolamide 2%;Brinzolamide 1%
48 Multi-Center Study Assessing the Efficacy and Tolerability of TRAVATAN® Solution Without BAK, Containing Polyquad® Preservative (0.004% Travoprost) in Patients Previously on Latanoprost 0.005% or Bimatoprost 0.01% Ophthalmic Solution Monotherapy Completed NCT01493427 Phase 4 Travoprost 0.004%
49 Additive Effect of Twice Daily Brinzolamide 1%/Brimonidine 0.2% Fixed Dose Combination as an Adjunctive Therapy to a Prostaglandin Analogue Completed NCT02419508 Phase 4 Brinzolamide 1%/brimonidine 0.2% tartrate ophthalmic suspension;Brinz/brim vehicle;Prostaglandin analogue
50 Evaluation of Hyperemia With the Use of Ocular Prostaglandin Analogues Completed NCT00539526 Phase 4 Bimatoprost 0.03%;travoprost 0.004%;latanoprost 0.005% eye drops

Search NIH Clinical Center for Open-Angle Glaucoma

Inferred drug relations via UMLS 71 / NDF-RT 51 :


Betaxolol
Betaxolol Hydrochloride
bimatoprost
brimonidine
Brimonidine tartrate
brinzolamide
Carteolol
Carteolol Hydrochloride
Dipivefrin
Dipivefrin hydrochloride
dorzolamide
Dorzolamide hydrochloride
Echothiophate Iodide
Epinephrine
epinephrine bitartrate
epinephrine hydrochloride
epinephryl borate
isopropyl unoprostone
latanoprost
Levobunolol
Levobunolol Hydrochloride
Methazolamide
Metipranolol
Metipranolol hydrochloride
Phenylephrine
Phenylephrine bitartrate
Phenylephrine Hydrochloride
Phenylephrine Tannate
Racepinephrine Hydrochloride
Timolol
Timolol Hemihydrate
Timolol Maleate
travoprost
UNOPROSTONE

Cochrane evidence based reviews: glaucoma, open-angle

Sources

Genetic Tests for Open-Angle Glaucoma

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Sources

Anatomical Context for Open-Angle Glaucoma

About this section

MalaCards organs/tissues related to Open-Angle Glaucoma:

40
Eye, Retina, Endothelial, Brain, Cortex, Skin, Bone Marrow
Sources

Publications for Open-Angle Glaucoma

About this section

Articles related to Open-Angle Glaucoma:

(show top 50) (show all 12216)
# Title Authors PMID Year
1
CYP1B1 mutations in French patients with early-onset primary open-angle glaucoma. 61 6 54
15342693 2004
2
Mutations in CYP1B1 cause primary congenital glaucoma by reduction of either activity or abundance of the enzyme. 6
18470941 2008
3
Mutations of optineurin in amyotrophic lateral sclerosis. 54 61
20428114 2010
4
Little evidence for association of the glaucoma gene MYOC with open-angle glaucoma. 61 54
20447966 2010
5
Major LOXL1 risk allele is reversed in exfoliation glaucoma in a black South African population. 54 61
20431720 2010
6
Adenoviral gene transfer of active human transforming growth factor-{beta}2 elevates intraocular pressure and reduces outflow facility in rodent eyes. 54 61
19959644 2010
7
Mutation spectrum of the CYP1B1 gene for congenital glaucoma in the Japanese population. 61 54
20151268 2010
8
New mutation in the MYOC gene and its association with primary open-angle glaucoma in a Chinese family. 54 61
19688280 2010
9
Functional analysis of CYP1B1 mutations and association of heterozygous hypomorphic alleles with primary open-angle glaucoma. 54 61
19793111 2010
10
Myocilin in the trabecular meshwork of eyes with primary open-angle glaucoma. 54 61
19662433 2009
11
A novel optineurin genetic mutation associated with open-angle glaucoma in a Chinese family. 54 61
19710941 2009
12
Correction of the disease phenotype of myocilin-causing glaucoma by a natural osmolyte. 61 54
19234343 2009
13
Genetic risk for primary open-angle glaucoma determined by LMX1B haplotypes. 61 54
18952915 2009
14
Glaucoma-associated myocilin: a better understanding but much more to learn. 61 54
18804106 2009
15
Lack of association between optineurin gene variants T34T, E50K, M98K, 691_692insAG and R545Q and primary open angle glaucoma in Brazilian patients. 61 54
19172505 2009
16
Different WDR36 mutation pattern in Chinese patients with primary open-angle glaucoma. 54 61
19347049 2009
17
Multiple gene polymorphisms analysis revealed a different profile of genetic polymorphisms of primary open-angle glaucoma in northern Chinese. 61 54
19145250 2009
18
Optineurin and its mutants: molecules associated with some forms of glaucoma. 61 54
19672125 2009
19
[Matrix metalloproteinases (MMPs): modern molecular markers of open-angle glaucoma diagnosis and therapy]. 61 54
19002081 2008
20
Two novel myocilin mutations in a Chinese family with primary open-angle glaucoma. 54 61
18776955 2008
21
Elevated amounts of myocilin in the aqueous humor of transgenic mice cause significant changes in ocular gene expression. 54 61
18602390 2008
22
Lack of association between LOXL1 variants and primary open-angle glaucoma in three different populations. 61 54
18421074 2008
23
Lysyl oxidase-like 1 gene polymorphisms in Japanese patients with primary open angle glaucoma and exfoliation syndrome. 54 61
18636115 2008
24
Seed-based systematic discovery of specific transcription factor target genes. 54 61
18485006 2008
25
Leu432Val polymorphism in CYP1B1 as a susceptible factor towards predisposition to primary open-angle glaucoma. 54 61
18483560 2008
26
Gene expression profiles of human trabecular meshwork cells induced by triamcinolone and dexamethasone. 54 61
18436822 2008
27
Transgenic mice expressing the Tyr437His mutant of human myocilin protein develop glaucoma. 61 54
18436825 2008
28
Glutathione S-transferase M1 and T1 polymorphisms in Arab glaucoma patients. 61 54
18334963 2008
29
Presence of myocilin sequence variants in Japanese patients with open-angle glaucoma. 54 61
18334962 2008
30
Absence of optineurin (OPTN) gene mutations in Taiwanese patients with juvenile-onset open-angle glaucoma. 54 61
18385781 2008
31
Myocilin allele-specific glaucoma phenotype database. 54 61
17966125 2008
32
Effects of timolol on MYOC, OPTN, and WDR36 RNA levels. 61 54
18195223 2008
33
LOXL1 variants in elderly Japanese patients with exfoliation syndrome/glaucoma, primary open-angle glaucoma, normal tension glaucoma, and cataract. 54 61
18958304 2008
34
Optineurin coding variants in Ghanaian patients with primary open-angle glaucoma. 54 61
19096531 2008
35
Evaluation of LOXL1 polymorphisms in primary open-angle glaucoma in southern and northern Chinese. 54 61
19098994 2008
36
Clinical and genetic characteristics of primary juvenile-onset open-angle glaucoma (JOAG). 61 54
18214788 2008
37
Suppression of keratoepithelin and myocilin by small interfering RNAs (siRNA) in vitro. 61 54
18079684 2007
38
What increases outflow resistance in primary open-angle glaucoma? 61 54
17998032 2007
39
Association between primary open-angle glaucoma and WDR36 DNA sequence variants in Japanese. 54 61
17960130 2007
40
Identification of mutations in the myocilin (MYOC) gene in Taiwanese patients with juvenile-onset open-angle glaucoma. 61 54
17893664 2007
41
MYOC gene mutations in Spanish patients with autosomal dominant primary open-angle glaucoma: a founder effect in southeast Spain. 61 54
17893668 2007
42
Population differences in elastin maturation in optic nerve head tissue and astrocytes. 61 54
17591890 2007
43
Myocilin variants in Indian patients with open-angle glaucoma. 61 54
17562996 2007
44
[Investigation on the mutation of MYOC gene in two family pedigrees with primary open-angle glaucoma in Shanxi]. 61 54
17867509 2007
45
Role of MYOC and OPTN sequence variations in Spanish patients with primary open-angle glaucoma. 61 54
17615537 2007
46
Role of CYP1B1, MYOC, OPTN, and OPTC genes in adult-onset primary open-angle glaucoma: predominance of CYP1B1 mutations in Indian patients. 61 54
17563717 2007
47
Evaluation of the OPTC gene in primary open angle glaucoma: functional significance of a silent change. 54 61
17359525 2007
48
Bone morphogenetic protein-7 is an antagonist of transforming growth factor-beta2 in human trabecular meshwork cells. 61 54
17251470 2007
49
Suppression of keratoepithelin and myocilin by small interfering RNA (an American Ophthalmological Society thesis). 54 61
18427622 2007
50
The OPA1 gene polymorphism is associated with normal tension and high tension glaucoma. 54 61
17188046 2007
Sources

Variations for Open-Angle Glaucoma

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ClinVar genetic disease variations for Open-Angle Glaucoma:

6 (show top 50) (show all 131)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MYOC NM_000261.2(MYOC):c.1111T>C (p.Tyr371His) SNV Pathogenic 242274 rs878854408 1:171605469-171605469 1:171636329-171636329
2 LOC108903148 NM_001008212.2(OPTN):c.158_161dup (p.Lys55fs) Duplication Pathogenic 576203 rs1564354968 10:13151279-13151280 10:13109279-13109280
3 LOC108903148 NC_000010.11:g.(?_13109123)_(13183100_?)del Deletion Pathogenic 583651 10:13151123-13225100 10:13109123-13183100
4 CAMK1D NC_000010.10:g.(?_12833157)_(13178866_?)del Deletion Pathogenic 584050 10:12833157-13178866
5 OPTN NM_001008212.2(OPTN):c.381_382insAG (p.Asp128fs) Insertion Pathogenic 647662 rs774258585 10:13154464-13154465 10:13112464-13112465
6 LOC108903148 NC_000010.11:g.(?_13109103)_(13136886_?)del Deletion Pathogenic 529764 10:13151103-13178886 10:13109103-13136886
7 OPTN NC_000010.11:g.(?_13109113)_(13112645_?)del Deletion Pathogenic 832940 10:13151113-13154645
8 OPTN NC_000010.11:g.(?_13116257)_(13116350_?)del Deletion Pathogenic 831344 10:13158257-13158350
9 CYP1B1 NM_000104.3(CYP1B1):c.241T>A (p.Tyr81Asn) SNV Pathogenic 7744 rs9282671 2:38302291-38302291 2:38075148-38075148
10 LTBP2 NM_000428.3(LTBP2):c.1484G>A (p.Arg495Gln) SNV Likely pathogenic 126950 rs137854858 14:75017969-75017969 14:74551266-74551266
11 LTBP2 NM_000428.3(LTBP2):c.3571G>A (p.Glu1191Lys) SNV Likely pathogenic 126954 rs137854862 14:74975388-74975388 14:74508685-74508685
12 LTBP2 NM_000428.3(LTBP2):c.4250A>G (p.Gln1417Arg) SNV Likely pathogenic 126955 rs137854863 14:74971805-74971805 14:74505102-74505102
13 LTBP2 NM_000428.3(LTBP2):c.4912G>A (p.Val1638Met) SNV Likely pathogenic 126958 rs137854860 14:74969614-74969614 14:74502911-74502911
14 MYOC NM_000261.2(MYOC):c.1102C>T (p.Gln368Ter) SNV Likely pathogenic 7949 rs74315329 1:171605478-171605478 1:171636338-171636338
15 CARD10 NM_014550.4(CARD10):c.1210C>T (p.Arg404Trp) SNV risk factor 224915 rs750643216 22:37902372-37902372 22:37506365-37506365
16 CARD10 NM_014550.4(CARD10):c.635G>A (p.Arg212His) SNV risk factor 224912 rs1057519378 22:37912044-37912044 22:37516037-37516037
17 CARD10 NM_014550.4(CARD10):c.2485C>T (p.Arg829Trp) SNV risk factor 224916 rs201794655 22:37888801-37888801 22:37492794-37492794
18 CARD10 NM_014550.4(CARD10):c.983C>T (p.Ala328Val) SNV risk factor 224913 rs139006752 22:37904616-37904616 22:37508609-37508609
19 CARD10 NM_014550.4(CARD10):c.1024G>A (p.Val342Met) SNV risk factor 224914 rs200148764 22:37904575-37904575 22:37508568-37508568
20 OPTN NM_001008212.2(OPTN):c.1634G>A (p.Arg545Gln) SNV Conflicting interpretations of pathogenicity 7098 rs75654767 10:13178766-13178766 10:13136766-13136766
21 OPTN NM_001008212.2(OPTN):c.-184C>G SNV Uncertain significance 879254 10:13142282-13142282 10:13100282-13100282
22 OPTN NM_001008212.2(OPTN):c.-172G>A SNV Uncertain significance 879255 10:13142294-13142294 10:13100294-13100294
23 OPTN NM_001008212.2(OPTN):c.1243-9C>A SNV Uncertain significance 878758 10:13169736-13169736 10:13127736-13127736
24 OPTN NM_001008212.2(OPTN):c.1442C>T (p.Ala481Val) SNV Uncertain significance 447910 rs377219791 10:13174107-13174107 10:13132107-13132107
25 OPTN NM_001008212.2(OPTN):c.*631A>G SNV Uncertain significance 878794 10:13179497-13179497 10:13137497-13137497
26 OPTN NM_001008212.2(OPTN):c.*1111A>C SNV Uncertain significance 879768 10:13179977-13179977 10:13137977-13137977
27 LOC108903148 NM_001008212.2(OPTN):c.-9A>G SNV Uncertain significance 880441 10:13151114-13151114 10:13109114-13109114
28 LOC108903148 NM_001008212.2(OPTN):c.17T>G (p.Leu6Arg) SNV Uncertain significance 880442 10:13151139-13151139 10:13109139-13109139
29 OPTN NM_001008212.2(OPTN):c.1242+327C>T SNV Uncertain significance 931275 10:13168366-13168366 10:13126366-13126366
30 OPTN NM_001008212.2(OPTN):c.1414T>C (p.Cys472Arg) SNV Uncertain significance 932115 10:13174079-13174079 10:13132079-13132079
31 OPTN NM_001008212.2(OPTN):c.1613G>A (p.Gly538Glu) SNV Uncertain significance 940858 10:13178745-13178745 10:13136745-13136745
32 OPTN NM_001008212.2(OPTN):c.754G>C (p.Val252Leu) SNV Uncertain significance 962957 10:13161015-13161015 10:13119015-13119015
33 LOC108903148 NM_001008212.2(OPTN):c.287G>A (p.Arg96His) SNV Uncertain significance 969108 10:13152394-13152394 10:13110394-13110394
34 OPTN NM_001008212.2(OPTN):c.682C>T (p.His228Tyr) SNV Uncertain significance 934500 10:13160943-13160943 10:13118943-13118943
35 OPTN NC_000010.11:g.(?_13118878)_(13119050_?)del Deletion Uncertain significance 832895 10:13160878-13161050
36 OPTN NM_001008211.1(OPTN):c.-408G>T SNV Uncertain significance 877641 10:13142127-13142127 10:13100127-13100127
37 OPTN NM_001008212.2(OPTN):c.*222G>C SNV Uncertain significance 877764 10:13179088-13179088 10:13137088-13137088
38 OPTN NM_001008212.2(OPTN):c.*335C>T SNV Uncertain significance 877765 10:13179201-13179201 10:13137201-13137201
39 LOC108903148 NM_001008212.2(OPTN):c.359G>A (p.Arg120Lys) SNV Uncertain significance 878705 10:13152466-13152466 10:13110466-13110466
40 OPTN NM_001008212.2(OPTN):c.398G>A (p.Arg133Lys) SNV Uncertain significance 878706 10:13154481-13154481 10:13112481-13112481
41 OPTN NM_001008212.2(OPTN):c.626+4T>C SNV Uncertain significance 848382 10:13158344-13158344 10:13116344-13116344
42 OPTN NM_001008212.2(OPTN):c.1533-3C>T SNV Uncertain significance 852864 10:13175499-13175499 10:13133499-13133499
43 OPTN NM_001008212.2(OPTN):c.605C>T (p.Thr202Met) SNV Uncertain significance 861585 10:13158319-13158319 10:13116319-13116319
44 LOC108903148 NM_001008212.2(OPTN):c.14C>G (p.Pro5Arg) SNV Uncertain significance 565324 rs1564354765 10:13151136-13151136 10:13109136-13109136
45 OPTN NM_001008212.2(OPTN):c.*938C>G SNV Uncertain significance 299232 rs886046826 10:13179804-13179804 10:13137804-13137804
46 OPTN NM_001008212.2(OPTN):c.941A>T (p.Gln314Leu) SNV Uncertain significance 266060 rs142812715 10:13166053-13166053 10:13124053-13124053
47 OPTN NM_001008212.2(OPTN):c.963C>T (p.Ser321=) SNV Uncertain significance 299218 rs150381274 10:13166075-13166075 10:13124075-13124075
48 OPTN NM_001008212.2(OPTN):c.1402-3C>G SNV Uncertain significance 650247 rs1588452749 10:13174064-13174064 10:13132064-13132064
49 OPTN NM_001008212.2(OPTN):c.403G>A (p.Glu135Lys) SNV Uncertain significance 651429 rs140599944 10:13154486-13154486 10:13112486-13112486
50 OPTN NM_001008212.2(OPTN):c.-272G>T SNV Uncertain significance 299204 rs886046817 10:13142194-13142194 10:13100194-13100194
Sources

Expression for Open-Angle Glaucoma

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Search GEO for disease gene expression data for Open-Angle Glaucoma.
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Pathways for Open-Angle Glaucoma

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Pathways related to Open-Angle Glaucoma according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Degradation of the extracellular matrix 65
Show member pathways
 12.09 TGFB2 OPTC MMP1 LTBP2 LOXL1 ELN
2
Elastic fibre formation 65
Show member pathways
 10.79 TGFB2 LTBP2 LOXL1 ELN
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GO Terms for Open-Angle Glaucoma

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Cellular components related to Open-Angle Glaucoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 collagen-containing extracellular matrix GO:0062023 9.35 TGFB2 MYOC LTBP2 LOXL1 ELN
2 extracellular matrix GO:0031012 9.02 OPTC MMP1 LTBP2 LOXL1 ELN

Biological processes related to Open-Angle Glaucoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.46 WDR36 OPA1 CYP1B1 CRYAA
2 positive regulation of xenophagy GO:1904417 8.96 TBK1 OPTN
3 collagen fibril organization GO:0030199 8.92 TGFB2 OPTC LOXL1 CYP1B1

Molecular functions related to Open-Angle Glaucoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 8.8 OPTC LTBP2 ELN
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Sources for Open-Angle Glaucoma

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
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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