MCID: GLC079
MIFTS: 23

Glaucoma 1, Open Angle, P

Categories: Genetic diseases, Rare diseases, Eye diseases, Fetal diseases

Aliases & Classifications for Glaucoma 1, Open Angle, P

MalaCards integrated aliases for Glaucoma 1, Open Angle, P:

Name: Glaucoma 1, Open Angle, P 54 71 13 69
Primary Open Angle Glaucoma 1p 71
Glc1p 71

Characteristics:

OMIM:

54
Miscellaneous:
early age of onset (mean age at diagnosis, 36 years) most patients have intraocular pressures within the normal range (21 mmhg or less)

Inheritance:
autosomal dominant


HPO:

32
glaucoma 1, open angle, p:
Inheritance autosomal dominant inheritance
Onset and clinical course adult onset


Classifications:



External Ids:

OMIM 54 177700
MedGen 40 C1867465
MeSH 42 D005902

Summaries for Glaucoma 1, Open Angle, P

OMIM : 54
Glaucomas are a group of common neurodegenerative diseases of the optic nerve and retinal ganglion cells, characterized by progressive cupping of the optic nerve head with resultant visual field loss. Elevated intraocular pressure (IOP) is a strong risk factor for glaucoma; however, glaucoma can occur at any IOP. The most common form of glaucoma in the US is primary open-angle glaucoma (POAG; see 137760). POAG that occurs with an IOP below an arbitrary threshold of 21 mm Hg is often termed 'normal tension glaucoma' (summary by Fingert et al., 2011). For a discussion of genetic heterogeneity of primary open angle glaucoma, see 137760. (177700)

MalaCards based summary : Glaucoma 1, Open Angle, P, also known as primary open angle glaucoma 1p, is related to mucopolysaccharidosis type iiid, and has symptoms including glaucoma, increased cup-to-disc ratio and glaucomatous visual field defect. An important gene associated with Glaucoma 1, Open Angle, P is GLC1P (Glaucoma 1, Open Angle, P). The drugs Brinzolamide and Dorzolamide have been mentioned in the context of this disorder. Affiliated tissues include eye.

UniProtKB/Swiss-Prot : 71 Glaucoma 1, open angle, P: 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. GLC1P is characterized by early onset, thin central corneas and low intraocular pressure.

Related Diseases for Glaucoma 1, Open Angle, P

Diseases in the Open-Angle Glaucoma family:

Glaucoma 1a, Primary Open Angle Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, or Adult Onset
Glaucoma 1, Open Angle, P Glaucoma 1, Open Angle, I
Glaucoma 1, Open Angle, 1o Glaucoma, Primary Open Angle, Juvenile-Onset, 2

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

id Related Disease Score Top Affiliating Genes
1 mucopolysaccharidosis type iiid 9.5 GLC1P TBK1

Symptoms & Phenotypes for Glaucoma 1, Open Angle, P

Symptoms via clinical synopsis from OMIM:

54

Head And Neck- Eyes:
visual field defects
thin central cornea
increased cup-to-disc ratio
cupping of optic nerve head


Clinical features from OMIM:

177700

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

32
id Description HPO Frequency HPO Source Accession
1 glaucoma 32 HP:0000501
2 increased cup-to-disc ratio 32 HP:0012796
3 glaucomatous visual field defect 32 HP:0007854

Drugs & Therapeutics for Glaucoma 1, Open Angle, P

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

(show all 45)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Brinzolamide Approved Phase 4 138890-62-7 68844
2
Dorzolamide Approved Phase 4 120279-96-1 3154 5284549
3
Timolol Approved Phase 4,Phase 3 26839-75-8 33624 5478
4
Latanoprost Approved, Investigational Phase 4 130209-82-4 5282380 5311221
5
Sorbitol Approved Phase 4 50-70-4 5780
6
Bimatoprost Approved, Investigational Phase 4,Phase 3 155206-00-1 5311027
7
Travoprost Approved Phase 4 157283-68-6 5282226
8
Maleic acid Experimental Phase 4 110-16-7 444266
9 Adrenergic Agents Phase 4,Phase 3
10 Adrenergic Agonists Phase 4
11 Adrenergic alpha-2 Receptor Agonists Phase 4
12 Adrenergic alpha-Agonists Phase 4
13 Antihypertensive Agents Phase 4,Phase 3
14 Brimonidine Tartrate Phase 4 70359-46-5
15 Neurotransmitter Agents Phase 4,Phase 3
16 Adrenergic Antagonists Phase 4,Phase 3
17 Adrenergic beta-Antagonists Phase 4,Phase 3
18 Anti-Arrhythmia Agents Phase 4,Phase 3
19 Carbonic Anhydrase Inhibitors Phase 4
20 Ophthalmic Solutions Phase 4,Phase 3,Phase 1
21 Pharmaceutical Solutions Phase 4,Phase 3,Phase 1
22 Anesthetics Phase 4,Phase 1,Phase 2
23 Cathartics Phase 4
24 Gastrointestinal Agents Phase 4
25 Laxatives Phase 4
26 Anticoagulants Phase 4
27 Blood Substitutes Phase 4
28 Cloprostenol Phase 4
29 Contraceptive Agents Phase 4
30 Dextrans Phase 4
31 Lubricant Eye Drops Phase 4
32 Luteolytic Agents Phase 4
33 Plasma Substitutes Phase 4
34 Tetrahydrozoline Phase 4,Phase 3
35 Anti-Bacterial Agents Phase 4
36 Antibiotics, Antitubercular Phase 4
37 Mitomycins Phase 4
38
Ephedrine Approved Phase 3 299-42-3 9294
39
Pseudoephedrine Approved Phase 3 90-82-4 7028
40 Autonomic Agents Phase 3
41 Nasal Decongestants Phase 3
42 Peripheral Nervous System Agents Phase 3
43 Respiratory System Agents Phase 3
44 Vasoconstrictor Agents Phase 3
45
Coal tar Approved Phase 1, Phase 2 8007-45-2

Interventional clinical trials:

(show all 22)

id Name Status NCT ID Phase Drugs
1 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
2 Comparison of Intraocular Pressure (IOP)-Lowering Efficacy and Safety of AZORGA® Ophthalmic Suspension and COSOPT® Ophthalmic Solution Completed NCT02325518 Phase 4 Brinzolamide 1%/Timolol maleate 0.5% fixed combination ophthalmic suspension;Dorzolamide hydrochloride 1%/Timolol maleate 0.5% ophthalmic solution;Subject's habitual PGA monotherapy
3 Comparison of Brimonidine Purite, Dorzolamide, and Brinzolamide as Adjunctive Therapy to Prostaglandin Analogs Completed NCT00675207 Phase 4 Brimonidine purite 0.15%;Dorzolamide 2%;Brinzolamide 1%
4 Comparison Of Trabeculectomy Versus The Ex-PRESS Miniature Glaucoma Device In The Same Patient: A Prospective Randomized Study Completed NCT00698438 Phase 4
5 Comparison of Istalol™ 0.5% QD (Timolol Maleate/Sorbitol Complex, ISTA Pharmaceutical) to Brimonidine Tartrate 0.1% BID as Adjunctive Therapy to Latanoprost 0.005% in Adults With Ocular Hypertension (OHT) or Open-Angle Glaucoma (OAG) Completed NCT00698945 Phase 4 Istalol and Optive;Alphagan
6 24-hour IOP-lowering Effect of Brimonidine 0.1% Completed NCT00457795 Phase 4 brimonidine 0.1% (Alphagan® P)
7 Blood-aqueous Barrier Changes After the Use of Timolol and Prostaglandin Analogues Fixed Combination in Pseudophakic Patients With POAG Completed NCT01978015 Phase 4 travoprost and timolol maleate fixed combination;latanoprost and maleate timolol fixed combination;bimatoprost and timolol maleate fixed combination;dextran and hypromellose
8 Comparison of Ex-PRESSTM Mini Glaucoma Shunt to Trabeculectomy in Subjects With Open Angle Glaucoma Completed NCT00444080 Phase 4
9 Safety and Efficacy of SIMBRINZA® BID as an Adjunctive to DUOTRAV® Recruiting NCT02730871 Phase 4 Brinzolamide 1%/Brimonidine 0.2% suspension;Brinzolamide/Brimonidine vehicle;Travoprost 0.004%/Timolol 0.5% solution
10 SIMBRINZA® Suspension BID as an Adjunctive to Prostaglandin Analogue (PGA) Recruiting NCT02419508 Phase 4 Brinzolamide 1%/brimonidine 0.2% tartrate ophthalmic suspension;Brinz/brim vehicle;Prostaglandin analogue
11 Tafluprost-Timolol Fixed Dose Combination Non-Inferiority Study Against Concomitant Administrations Completed NCT01306461 Phase 3 Timolol and Tafluprost;Fixed Dose Combination of tafluprost and timolol
12 Comparison of Bimatoprost SR to Selective Laser Trabeculoplasty in Patients With Open-Angle Glaucoma or Ocular Hypertension Recruiting NCT02507687 Phase 3 Bimatoprost SR
13 Efficacy and Safety of Bimatoprost Sustained-Release (SR) in Patients With Open-angle Glaucoma or Ocular Hypertension Recruiting NCT02247804 Phase 3 Bimatoprost sustained-release;Timolol;Timolol Vehicle (placebo)
14 Safety and Efficacy of Bimatoprost Sustained-Release (SR) in Patients With Open-Angle Glaucoma or Ocular Hypertension Recruiting NCT02250651 Phase 3 Bimatoprost sustained-release;Timolol;Timolol Vehicle (placebo)
15 Effectiveness and Safety of Adipose-Derived Regenerative Cells for Treatment of Glaucomatous Neurodegeneration Enrolling by invitation NCT02144103 Phase 1, Phase 2
16 A Placebo-Controlled Study of INS117548 Ophthalmic Solution in Subjects With Glaucoma (P08650) Completed NCT00767793 Phase 1 Placebo;INS117548;INS117548;INS117548
17 Study of INS115644 Ophthalmic Solution in Subjects With Ocular Hypertension or Glaucoma Completed NCT00443924 Phase 1 INS115644 Ophthalmic Solution;Placebo;INS115644 Ophthalmic Solution;INS115644 Ophthalmic Solution;INS115644 Ophthalmic Solution
18 Intravitreal Mesenchymal Stem Cell Transplantation in Advanced Glaucoma. Recruiting NCT02330978 Phase 1
19 Prospective Study Phase: Retinal Oxygen Saturation, Blood Flow, Vascular Function and High Resolution Morphometric Imaging in the Living Human Eye Unknown status NCT01348672
20 The Genetic Characteristics in South Korean Patients With Primary Congenital Glaucoma Unknown status NCT01020721
21 Additivity Study: Additive Effect on Eye Pressure of Azopt and Alphagan P to Travatan Completed NCT00121147 Travatan;Azopt;Alphagan P
22 PAIR Study-PAP And IOP Relationship: Study 1 Recruiting NCT03127813

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

Genetic Tests for Glaucoma 1, Open Angle, P

Anatomical Context for Glaucoma 1, Open Angle, P

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

39
Eye

Publications for Glaucoma 1, Open Angle, P

Variations for Glaucoma 1, Open Angle, P

Expression for Glaucoma 1, Open Angle, P

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

Pathways for Glaucoma 1, Open Angle, P

GO Terms for Glaucoma 1, Open Angle, P

Sources for Glaucoma 1, Open Angle, P

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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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