GLC1E
MCID: GLC062
MIFTS: 44

Glaucoma 1, Open Angle, E (GLC1E) malady

Categories: Genetic diseases, Eye diseases

Aliases & Classifications for Glaucoma 1, Open Angle, E

Aliases & Descriptions for Glaucoma 1, Open Angle, E:

Name: Glaucoma 1, Open Angle, E 54 24 66 29 13 38 69
Primary Open Angle Glaucoma 38 12 24 52 14
Glaucoma, Primary Open Angle 66 29 42 69
Glc1e, Glaucoma, Primary Open Angle, Adult Onset 24
Glaucoma, Primary Open Angle, Adult-Onset 52
Adult-Onset Primary Open Angle Glaucoma 66
Primary Open Angle Glaucoma 1e 66
Chronic Simple Glaucoma 12
Glc1e 66
Poag 66

Characteristics:

HPO:

32
glaucoma 1, open angle, e:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 137760
Disease Ontology 12 DOID:1070
ICD10 33 H40.11
ICD9CM 35 365.11
NCIt 47 C35394
SNOMED-CT 64 155122001 77075001
UMLS 69 C0339573

Summaries for Glaucoma 1, Open Angle, E

OMIM : 54 Quigley (1993) reviewed adult-onset primary open angle glaucoma, which combines a particular abnormal appearance of the... (137760) more...

MalaCards based summary : Glaucoma 1, Open Angle, E, also known as primary open angle glaucoma, is related to glaucoma, primary open angle, juvenile-onset, 2 and glaucoma 1a, primary open angle, and has symptoms including myopia and primary open angle glaucoma. An important gene associated with Glaucoma 1, Open Angle, E is OPTN (Optineurin), and among its related pathways/superpathways is Elastic fibre formation. The drugs Brinzolamide and Timolol have been mentioned in the context of this disorder. Affiliated tissues include Eye and eye.

UniProtKB/Swiss-Prot : 66 Glaucoma 1, open angle, E: A form of primary open angle glaucoma (POAG). POAG is characterized by a specific pattern of optic nerve and visual field defects. The angle of the anterior chamber of the eye is open, and usually the intraocular pressure is increased. However, glaucoma can occur at any intraocular pressure. The disease is generally asymptomatic until the late stages, by which time significant and irreversible optic nerve damage has already taken place. Glaucoma, primary open angle: A complex and genetically heterogeneous ocular disorder characterized by a specific pattern of optic nerve and visual field defects. The angle of the anterior chamber of the eye is open, and usually the intraocular pressure is increased. However, glaucoma can occur at any intraocular pressure. The disease is generally asymptomatic until the late stages, by which time significant and irreversible optic nerve damage has already taken place. In some cases, POAG shows digenic inheritance involving mutations in CYP1B1 and MYOC genes.

Related Diseases for Glaucoma 1, Open Angle, E

Diseases in the Glaucoma 1, Open Angle, G family:

Glaucoma 1, Open Angle, F Glaucoma 1, Open Angle, E

Diseases related to Glaucoma 1, Open Angle, E via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 77)
id Related Disease Score Top Affiliating Genes
1 glaucoma, primary open angle, juvenile-onset, 2 12.2
2 glaucoma 1a, primary open angle 12.0
3 glaucoma 1, open angle, p 11.9
4 glaucoma 1, open angle, f 11.8
5 glaucoma 1, open angle, g 11.8
6 glaucoma 1, open angle, 1o 11.8
7 open-angle glaucoma 11.6
8 ocular hypertension 10.8
9 retinitis 10.5
10 primary angle-closure glaucoma 10.5
11 pituitary hormone deficiency, combined, 4 10.4 CYP1B1 MYOC OPTN
12 baraitser-winter syndrome 10.4 CYP1B1 OPTN
13 chronic tympanitis 10.4 CYP1B1 MYOC OPTN
14 mental retardation, autosomal dominant 33 10.4 ASB10 OPTN WDR36
15 opisthorchiasis 10.4 CYP1B1 MYOC OPTN
16 red-green color vision defects 10.4 CYP1B1 MYOC WDR36
17 peters anomaly 10.4 CYP1B1 MYOC OPTN
18 idiopathic corneal edema 10.4 CYP1B1 MYOC OPTN
19 mixed gonadal dysgenesis 10.3 OPTN PHEX TGFB2
20 acquired hyperkeratosis 10.3 OPTN PHEX
21 acute poststreptococcal glomerulonephritis 10.3 CYP1B1 GSTM1 MYOC OPTN
22 emery-dreifuss muscular dystrophy 5, autosomal dominant 10.3 COCH SIX1
23 skin granular cell tumor 10.3 LOXL1 OPTN PHEX
24 nevoid hypermelanosis, linear and whorled 10.3 CYP1B1 MYOC OPTN WDR36
25 olecranon bursitis 10.3 ELN LOXL1 OPTN PHEX
26 pseudopterygium 10.3 LOXL1 OPTN PHEX
27 allergic contact dermatitis of eyelid 10.3 ELN MYOC OPTN UBL4A
28 mechanical strabismus 10.3 MYOC OPTN PHEX UBL4A
29 scapuloperoneal syndrome, myopathic type 10.3 ASB10 OPTN
30 muir-torre syndrome 10.3 CYP1B1 MYOC TGFB2
31 schizencephaly 10.3 SIX1 SIX6
32 conjunctival folliculosis 10.3 CYP1B1 OPTN
33 myopia 10.3
34 endotheliitis 10.2
35 cataract 10.2
36 hereditary xanthinuria 10.2 CYP1B1 MYOC
37 adult liposarcoma 10.2 ABCA4 MYOC OPTN
38 exfoliation syndrome 10.2
39 glaucoma, normal tension 10.1
40 morbid obesity and spermatogenic failure 10.1 CDKN2B-AS1 LOXL1 MYOC OPTN PHEX UBL4A
41 otofaciocervical syndrome 10.1 SIX1 SIX6
42 hypertrophy of breast 10.1 CYP1B1 ELN MYOC OPTN PHEX TGFB2
43 choroiditis 10.1
44 neuropathy 10.0
45 dementia 10.0
46 steroid-induced glaucoma 9.9
47 primary congenital glaucoma 9.9
48 retinal vein occlusion 9.9
49 cerebritis 9.9
50 ocular hypotension 9.9

Graphical network of the top 20 diseases related to Glaucoma 1, Open Angle, E:



Diseases related to Glaucoma 1, Open Angle, E

Symptoms & Phenotypes for Glaucoma 1, Open Angle, E

Symptoms by clinical synopsis from OMIM:

137760

Clinical features from OMIM:

137760

Human phenotypes related to Glaucoma 1, Open Angle, E:

32
id Description HPO Frequency HPO Source Accession
1 myopia 32 HP:0000545
2 primary open angle glaucoma 32 HP:0012108

Drugs & Therapeutics for Glaucoma 1, Open Angle, E

Drugs for Glaucoma 1, Open Angle, E (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 59)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Brinzolamide Approved Phase 4 138890-62-7 68844
2
Timolol Approved Phase 4,Phase 3,Phase 1,Phase 2 26839-75-8 33624 5478
3
Dorzolamide Approved Phase 4,Phase 3 120279-96-1 3154 5284549
4
Pilocarpine Approved Phase 4 54-71-7, 92-13-7 5910
5
Latanoprost Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 130209-82-4 5282380 5311221
6
Travoprost Approved Phase 4,Phase 2 157283-68-6 5282226
7
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 5743
8
Tobramycin Approved, Investigational Phase 4 32986-56-4 5496 36294
9
Trimethoprim Approved, Vet_approved Phase 4 738-70-5 5578
10
Maleic acid Experimental Phase 4,Phase 2 110-16-7 444266
11 Adrenergic Agents Phase 4,Phase 3,Phase 1,Phase 2
12 Adrenergic Agonists Phase 4,Phase 2
13 Adrenergic alpha-2 Receptor Agonists Phase 4,Phase 2
14 Adrenergic alpha-Agonists Phase 4,Phase 2
15 Adrenergic Antagonists Phase 4,Phase 3,Phase 1,Phase 2
16 Adrenergic beta-Antagonists Phase 4,Phase 3,Phase 1,Phase 2
17 Anti-Arrhythmia Agents Phase 4,Phase 3,Phase 1,Phase 2
18 Antihypertensive Agents Phase 4,Phase 3,Phase 2,Phase 1
19 Brimonidine Tartrate Phase 4,Phase 2 70359-46-5
20 Brimonidine Tartrate, Timolol Maleate Drug Combination Phase 4
21 Carbonic Anhydrase Inhibitors Phase 4,Phase 3
22 Neurotransmitter Agents Phase 4,Phase 3,Phase 1,Phase 2
23 Ophthalmic Solutions Phase 4,Phase 3,Phase 1,Phase 2
24 Pharmaceutical Solutions Phase 4,Phase 3,Phase 1,Phase 2
25 Anti-Allergic Agents Phase 4
26 Anti-Asthmatic Agents Phase 4
27 Anti-Inflammatory Agents Phase 4
28 Autonomic Agents Phase 4,Phase 3
29 Bronchodilator Agents Phase 4
30 Dermatologic Agents Phase 4
31
Fluticasone Phase 4 90566-53-3, 80474-14-2 62924 22833648
32 Peripheral Nervous System Agents Phase 4,Phase 3
33 Respiratory System Agents Phase 4,Phase 3
34 Cholinergic Agents Phase 4
35 Anti-Bacterial Agents Phase 4
36 Antibiotics, Antitubercular Phase 4
37 Antiemetics Phase 4
38 Anti-Infective Agents Phase 4
39 Antineoplastic Agents, Hormonal Phase 4
40 BB 1101 Phase 4
41 Dexamethasone 21-phosphate Phase 4
42 Dexamethasone acetate Phase 4 1177-87-3
43 Gastrointestinal Agents Phase 4
44 glucocorticoids Phase 4
45 HIV Protease Inhibitors Phase 4
46 Hormone Antagonists Phase 4
47 Hormones Phase 4
48 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
49 Polymyxin B Phase 4
50 Polymyxins Phase 4

Interventional clinical trials:

(show all 27)
id Name Status NCT ID Phase
1 Efficacy and Tolerability of AZARGA® as Replacement Therapy in Patients on COMBIGAN® Therapy in Canada Completed NCT01415401 Phase 4
2 Comparison of Brimonidine Purite, Dorzolamide, and Brinzolamide as Adjunctive Therapy to Prostaglandin Analogs Completed NCT00675207 Phase 4
3 Inhaled Corticosteroids: Effect on Intraocular Pressure in Patients With Controlled Glaucoma Completed NCT02338362 Phase 4
4 Dose, Effects and Characteristics of Pilocarpine Completed NCT00803803 Phase 4
5 Comparison of Combigan BID Versus Simbrinza TID Recruiting NCT02167035 Phase 4
6 Two Trabecular Micro-bypass Stents & Postoperative Travoprost to Treat Glaucoma Subjects on Two Hypotensive Agents Active, not recruiting NCT02873806 Phase 4
7 Efficacy of Changing to DuoTrav® (Travoprost 0.004%/Timolol 0.5% BAK-Free Fixed Combination) From Prior Therapy Terminated NCT01514721 Phase 4
8 Equivalence Study of Dorzolamide 2% Eye Drops Solution Completed NCT00878917 Phase 3
9 Tafluprost-Timolol Fixed Dose Combination Non-Inferiority Study Against Concomitant Administrations Completed NCT01306461 Phase 3
10 Safety and Efficacy of Bimatoprost Sustained-Release (SR) in Patients With Open-Angle Glaucoma or Ocular Hypertension Recruiting NCT02250651 Phase 3
11 Double-masked Study of PG324 Ophthalmic Solution in Patients With Glaucoma or Ocular Hypertension Active, not recruiting NCT02558400 Phase 3
12 A Study of Different Formulations of the L-PPDS in Subjects With OH or OAG Completed NCT00967811 Phase 2
13 Safety and Efficacy of a New Ophthalmic Formulation of Bimatoprost in Patients With Open Angle Glaucoma and Ocular Hypertension Completed NCT01157364 Phase 1, Phase 2
14 Study of Medical Treatment of Low-Pressure (Normal Tension) Glaucoma Completed NCT00317577 Phase 2
15 Safety and Efficacy of ENV515 Travoprost Extended Release (XR) in Patients With Bilateral Ocular Hypertension or Primary Open Angle Glaucoma Recruiting NCT02371746 Phase 2
16 Comparison Between Deep Sclerectomy and Traditional Trabeculotomy & Trabeculectomy in Congenital Glaucoma Unknown status NCT01460017 Phase 1
17 Study of SHP639 Eye Drops in Adults With High Eye Pressure or Primary Open-angle Glaucoma Recruiting NCT03131167 Phase 1
18 Intravitreal Mesenchymal Stem Cell Transplantation in Advanced Glaucoma. Recruiting NCT02330978 Phase 1
19 Safety Study of Latanoprost Slow Release Insert Terminated NCT01180062 Phase 1
20 Analysis of Clinical Profiles of Chinese Patients With Normal Tension Glaucoma Unknown status NCT00321386
21 Near to Infrared (NIR) Light Neuroprotection in Glaucomatous Optic Neuropathy Unknown status NCT00844389 Early Phase 1
22 Prospective Study Phase: Retinal Oxygen Saturation, Blood Flow, Vascular Function and High Resolution Morphometric Imaging in the Living Human Eye Unknown status NCT01348672
23 Retinal Oxygen Saturation, Blood Flow, Vascular Function and High Resolution Morphometric Imaging in the Living Human Eye Unknown status NCT01348633
24 Spectral Domain Optical Coherence Tomography Analysis for Glaucoma Completed NCT01612416
25 Polymorphisms in the Human Matrix Metalloproteinase Genes MMP1, MMP3, and MMP9: Genetic Risk Factors of Primary Open Angle Glaucoma? Completed NCT00312403
26 Comparing the Effect of the Water Drinking Test on Intraocular Pressure Completed NCT02001155
27 Multicentric Observational Study on Quality of Life in Glaucoma Completed NCT01742104

Search NIH Clinical Center for Glaucoma 1, Open Angle, E

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Glaucoma 1, Open Angle, E cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Glaucoma 1, Open Angle, E:
Renexus
Embryonic/Adult Cultured Cells Related to Glaucoma 1, Open Angle, E:
Human retinal stem cells secreting CNTF PMIDs: 16805711 17508034 16505355 23049090 15684670 12581701 15223826 18830926

Cochrane evidence based reviews: glaucoma, primary open angle

Genetic Tests for Glaucoma 1, Open Angle, E

Genetic tests related to Glaucoma 1, Open Angle, E:

id Genetic test Affiliating Genes
1 Primary Open Angle Glaucoma 29
2 Primary Open Angle Glaucoma (adult Onset) 29 24 WDR36
3 Glaucoma 1, Open Angle, E 29 24 OPTN

Anatomical Context for Glaucoma 1, Open Angle, E

MalaCards organs/tissues related to Glaucoma 1, Open Angle, E:

39
Eye
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Glaucoma 1, Open Angle, E:
id Tissue Anatomical CompartmentCell Relevance
1 Eye Ganglion Cell Layer Mature Ganglion Cells Affected by disease

Publications for Glaucoma 1, Open Angle, E

Variations for Glaucoma 1, Open Angle, E

UniProtKB/Swiss-Prot genetic disease variations for Glaucoma 1, Open Angle, E:

66 (show all 17)
id Symbol AA change Variation ID SNP ID
1 CYP1B1 p.Gly61Glu VAR_001244 rs28936700
2 CYP1B1 p.Trp57Cys VAR_008350 rs72549387
3 CYP1B1 p.Glu387Lys VAR_008352 rs55989760
4 CYP1B1 p.Tyr81Asn VAR_028736 rs9282671
5 CYP1B1 p.Ser28Trp VAR_054227 rs780002791
6 CYP1B1 p.Arg145Trp VAR_054235
7 CYP1B1 p.Glu229Lys VAR_054243 rs57865060
8 CYP1B1 p.Gly232Arg VAR_054244 rs104893628
9 CYP1B1 p.Leu345Phe VAR_054251 rs66583685
10 CYP1B1 p.Val409Phe VAR_054258
11 CYP1B1 p.Asn423Tyr VAR_054260 rs104893629
12 CYP1B1 p.Arg523Thr VAR_054267
13 CYP1B1 p.Asp530Gly VAR_054268
14 OPTN p.His26Asp VAR_021537
15 OPTN p.Glu50Lys VAR_021538 rs28939688
16 OPTN p.Glu103Asp VAR_021540
17 OPTN p.His486Arg VAR_021546

ClinVar genetic disease variations for Glaucoma 1, Open Angle, E:

6 (show all 13)
id Gene Variation Type Significance SNP ID Assembly Location
1 OPTN NM_001008211.1(OPTN): c.148G> A (p.Glu50Lys) single nucleotide variant Pathogenic rs28939688 GRCh37 Chromosome 10, 13151270: 13151270
2 OPTN OPTN, 2-BP INS, 691AG insertion Pathogenic
3 OPTN NM_001008211.1(OPTN): c.293T> A (p.Met98Lys) single nucleotide variant risk factor rs11258194 GRCh37 Chromosome 10, 13152400: 13152400
4 MYOC NM_000261.1(MYOC): c.1102C> T (p.Gln368Ter) single nucleotide variant Pathogenic/Likely pathogenic rs74315329 GRCh37 Chromosome 1, 171605478: 171605478
5 LTBP2 NM_000428.2(LTBP2): c.1484G> A (p.Arg495Gln) single nucleotide variant Likely pathogenic rs137854858 GRCh37 Chromosome 14, 75017969: 75017969
6 LTBP2 NM_000428.2(LTBP2): c.4250A> G (p.Gln1417Arg) single nucleotide variant Likely pathogenic rs137854863 GRCh37 Chromosome 14, 74971805: 74971805
7 LTBP2 NM_000428.2(LTBP2): c.4912G> A (p.Val1638Met) single nucleotide variant Likely pathogenic rs137854860 GRCh37 Chromosome 14, 74969614: 74969614
8 CARD10 NM_014550.3(CARD10): c.2485C> T (p.Arg829Trp) single nucleotide variant risk factor rs201794655 GRCh37 Chromosome 22, 37888801: 37888801
9 CARD10 NM_014550.3(CARD10): c.1210C> T (p.Arg404Trp) single nucleotide variant risk factor rs750643216 GRCh37 Chromosome 22, 37902372: 37902372
10 CARD10 NM_014550.3(CARD10): c.1024G> A (p.Val342Met) single nucleotide variant risk factor rs200148764 GRCh37 Chromosome 22, 37904575: 37904575
11 CARD10 NM_014550.3(CARD10): c.983C> T (p.Ala328Val) single nucleotide variant risk factor rs139006752 GRCh37 Chromosome 22, 37904616: 37904616
12 CARD10 NM_014550.3(CARD10): c.635G> A (p.Arg212His) single nucleotide variant risk factor rs1057519378 GRCh38 Chromosome 22, 37516037: 37516037
13 MYOC NM_000261.1(MYOC): c.1111T> C (p.Tyr371His) single nucleotide variant Pathogenic rs878854408 GRCh38 Chromosome 1, 171636329: 171636329

Expression for Glaucoma 1, Open Angle, E

Search GEO for disease gene expression data for Glaucoma 1, Open Angle, E.

Pathways for Glaucoma 1, Open Angle, E

Pathways related to Glaucoma 1, Open Angle, E according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
10.66 ELN LOXL1 TGFB2

GO Terms for Glaucoma 1, Open Angle, E

Cellular components related to Glaucoma 1, Open Angle, E according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 proteinaceous extracellular matrix GO:0005578 9.26 COCH ELN LOXL1 MYOC
2 extracellular matrix GO:0031012 8.92 COCH LOXL1 MYOC TGFB2

Biological processes related to Glaucoma 1, Open Angle, E according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 generation of neurons GO:0048699 8.96 SIX1 TGFB2
2 visual perception GO:0007601 8.92 ABCA4 CYP1B1 SIX6 WDR36

Sources for Glaucoma 1, Open Angle, E

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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