Details of Disease

General Information of Disease (ID: DISSZEE8)

• Disease Name: Open-angle glaucoma
• Synonyms: glaucoma, primary open angle; glaucoma simplex; pigmentary glaucoma; wide-angle glaucoma; open angle glaucoma; primary open angle glaucoma; POAG
• Disease Class: 9C61: Glaucoma
• Definition: Chronic outflow obstruction of the eye's drainage canals that can lead to increased internal eye pressure and optic nerve damage.
• Disease Hierarchy:
  DISLBXBY: Glaucoma/ocular hypertension
  DISSZEE8: Open-angle glaucoma
• ICD Code:
  ICD-11: ICD-11: 9C61
  ICD-9: ICD-9: 365
  Expand ICD-9: 365
• Disease Identifiers:
  MONDO ID: MONDO_0005338
  MESH ID: D005902
  UMLS CUI: C0017612
  MedGen ID: 6611
  HPO ID: HP:0012108
  SNOMED CT ID: 46168003

Drug-Interaction Atlas (DIA) of This Disease

This Disease is Treated as An Indication in 9 Approved Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
BOL-303259-X	DM2EXC5	Approved	Small molecular drug	[1]
Brinzolamide	DMBAPFG	Approved	Small molecular drug	[2]
Demecarium bromide	DMAYEU1	Approved	Small molecular drug	[3]
Dorzolamide	DMA17D0	Approved	Small molecular drug	[4]
Latanoprost	DMI5OXG	Approved	Small molecular drug	[5]
Levobunolol	DMTNFCQ	Approved	Small molecular drug	[6]
Metipranolol	DMJMVKI	Approved	Small molecular drug	[7]
Netarsudil	DM0LPI9	Approved	NA	[8]
Travoprost	DM20K91	Approved	Small molecular drug	[9]

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 14 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ATXN2	TTPQJ7P	Disputed	Biomarker	[10]
SLC6A2	TTAWNKZ	Disputed	Biomarker	[11]
ADRB1	TTR6W5O	Strong	Genetic Variation	[12]
ANGPT1	TTWNQ1T	Strong	Genetic Variation	[13]
CAV1	TTXUBN2	Strong	Biomarker	[14]
CHEK2	TT9ABMF	Strong	Genetic Variation	[13]
CYP1B1	TTI84H7	Strong	Genetic Variation	[15]
FOXC1	TTNT3YA	Strong	Biomarker	[10]
NEDD9	TT1UREA	Strong	Genetic Variation	[16]
OPA1	TTTU49Q	Strong	Biomarker	[17]
PDE7B	TTWIEY9	Strong	Genetic Variation	[13]
PTGER3	TTPNGDE	Strong	Genetic Variation	[18]
PTGFR	TTT2ZAR	Strong	Biomarker	[19]
RARB	TTISP28	Strong	Genetic Variation	[13]

This Disease Is Related to 3 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
FARS2	DE0WGR8	Strong	Genetic Variation	[20]
GMDS	DE8K7F3	Strong	Genetic Variation	[13]
PMM2	DEBRX3L	Strong	Genetic Variation	[21]

This Disease Is Related to 45 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CDKN2B	OTAG24N1	Limited	Genetic Variation	[18]
DCLRE1B	OT2LFW7A	Limited	Biomarker	[22]
NRG2	OTMDE844	Limited	Biomarker	[23]
OPTC	OTCASGO0	Limited	Biomarker	[24]
RAMP2	OTGQXLH5	Limited	Autosomal dominant	[25]
ACOXL	OTW680HT	Strong	Genetic Variation	[13]
ADAMTS16	OTTKUH99	Strong	Genetic Variation	[26]
AFAP1	OTR473H8	Strong	Genetic Variation	[13]
ANKH	OTCN25R5	Strong	Genetic Variation	[13]
ARHGEF12	OTM2D3LT	Strong	Genetic Variation	[13]
ASB10	OTYSZ9V6	Strong	Genetic Variation	[27]
BICC1	OTYRKIJ1	Strong	Genetic Variation	[13]
BNIP1	OT7USYCY	Strong	Genetic Variation	[13]
C14orf39	OTFKQ6HO	Strong	Genetic Variation	[10]
CADM2	OT45PVKC	Strong	Genetic Variation	[13]
CADPS	OTAJF6QN	Strong	Genetic Variation	[16]
CAV2	OT1FGRQX	Strong	Biomarker	[14]
COL11A1	OTB0DRMS	Strong	Genetic Variation	[13]
CPNE1	OTH5YKSL	Strong	Altered Expression	[28]
DGKD	OTNI8HAH	Strong	Genetic Variation	[13]
EXOC2	OT5QG1WG	Strong	Genetic Variation	[13]
FBXO32	OTUE978R	Strong	Genetic Variation	[13]
FMNL2	OT9OVWCV	Strong	Genetic Variation	[13]
FNDC3B	OTBILGDR	Strong	Biomarker	[29]
LMO7	OTDLY6TC	Strong	Genetic Variation	[30]
LMX1B	OTM8145D	Strong	Genetic Variation	[13]
LPP	OT6TU8SE	Strong	Genetic Variation	[13]
LTBP2	OTS88GSD	Strong	Genetic Variation	[31]
MADD	OTUFYVGG	Strong	Genetic Variation	[13]
MPP7	OT3G3HTZ	Strong	Genetic Variation	[20]
OAS3	OT6E5FYS	Strong	Genetic Variation	[32]
PLCE1	OTJISZOX	Strong	Genetic Variation	[13]
PLEKHA7	OTNUMAZ0	Strong	Genetic Variation	[33]
PLXNA2	OTNNBJMQ	Strong	Biomarker	[34]
PRKAG2	OTHTAM54	Strong	Genetic Variation	[13]
RPS19	OTBKGP48	Strong	Genetic Variation	[35]
SDR9C7	OTQY8SJ3	Strong	Genetic Variation	[16]
SIX1	OT70YYWM	Strong	Biomarker	[36]
SIX6	OTD1RD9D	Strong	Genetic Variation	[10]
THSD7A	OT7249HH	Strong	Genetic Variation	[13]
TMCO1	OTSME34W	Strong	Genetic Variation	[13]
TMEM181	OTMFVBHT	Strong	Genetic Variation	[13]
TOR1AIP1	OTTG8MAK	Strong	Genetic Variation	[26]
MYOC	OT6DAHNF	Definitive	Autosomal dominant	[37]
OLFM2	OT7TSF7I	Definitive	Biomarker	[38]

References

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• [2] URL: http://www.guidetopharmacology.org Nucleic Acids Res. 2015 Oct 12. pii: gkv1037. The IUPHAR/BPS Guide to PHARMACOLOGY in 2016: towards curated quantitative interactions between 1300 protein targets and 6000 ligands. (Ligand id: 6797).
• [3] FDA Approved Drug Products from FDA Official Website. 2009. Application Number: (NDA) 011860.
• [4] URL: http://www.guidetopharmacology.org Nucleic Acids Res. 2015 Oct 12. pii: gkv1037. The IUPHAR/BPS Guide to PHARMACOLOGY in 2016: towards curated quantitative interactions between 1300 protein targets and 6000 ligands. (Ligand id: 6810).
• [5] URL: http://www.guidetopharmacology.org Nucleic Acids Res. 2015 Oct 12. pii: gkv1037. The IUPHAR/BPS Guide to PHARMACOLOGY in 2016: towards curated quantitative interactions between 1300 protein targets and 6000 ligands. (Ligand id: 1961).
• [6] URL: http://www.guidetopharmacology.org Nucleic Acids Res. 2015 Oct 12. pii: gkv1037. The IUPHAR/BPS Guide to PHARMACOLOGY in 2016: towards curated quantitative interactions between 1300 protein targets and 6000 ligands. (Ligand id: 570).
• [7] URL: http://www.guidetopharmacology.org Nucleic Acids Res. 2015 Oct 12. pii: gkv1037. The IUPHAR/BPS Guide to PHARMACOLOGY in 2016: towards curated quantitative interactions between 1300 protein targets and 6000 ligands. (Ligand id: 7239).
• [8] 2017 FDA drug approvals.Nat Rev Drug Discov. 2018 Feb;17(2):81-85.
• [9] URL: http://www.guidetopharmacology.org Nucleic Acids Res. 2015 Oct 12. pii: gkv1037. The IUPHAR/BPS Guide to PHARMACOLOGY in 2016: towards curated quantitative interactions between 1300 protein targets and 6000 ligands. (Ligand id: 7102).
• [10] Genome-wide association analysis identifies TXNRD2, ATXN2 and FOXC1 as susceptibility loci for primary open-angle glaucoma.Nat Genet. 2016 Feb;48(2):189-94. doi: 10.1038/ng.3482. Epub 2016 Jan 11.
• [11] The Effects of Netarsudil Ophthalmic Solution on Aqueous Humor Dynamics in a Randomized Study in Humans.J Ocul Pharmacol Ther. 2018 Jun;34(5):380-386. doi: 10.1089/jop.2017.0138. Epub 2018 Feb 22.
• [12] Polymorphism of beta-adrenergic receptors and susceptibility to open-angle glaucoma.Mol Vis. 2006 Jun 12;12:673-80.
• [13] A multiethnic genome-wide association study of primary open-angle glaucoma identifies novel risk loci.Nat Commun. 2018 Jun 11;9(1):2278. doi: 10.1038/s41467-018-04555-4.
• [14] Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma.Nat Genet. 2010 Oct;42(10):906-9. doi: 10.1038/ng.661. Epub 2010 Sep 12.
• [15] Detection of mutations in MYOC, OPTN, NTF4, WDR36 and CYP1B1 in Chinese juvenile onset open-angle glaucoma using exome sequencing.Sci Rep. 2018 Mar 14;8(1):4498. doi: 10.1038/s41598-018-22337-2.
• [16] Genome-wide association study of primary open angle glaucoma risk and quantitative traits.Mol Vis. 2012;18:1083-92. Epub 2012 Apr 28.
• [17] Rates of Ganglion Cell-Inner Plexiform Layer Thinning in Normal, Open-Angle Glaucoma and Pseudoexfoliation Glaucoma Eyes: A Trend-Based Analysis.Invest Ophthalmol Vis Sci. 2019 Feb 1;60(2):599-604. doi: 10.1167/iovs.18-25296.
• [18] A genome-wide association study in the Japanese population confirms 9p21 and 14q23 as susceptibility loci for primary open angle glaucoma.Hum Mol Genet. 2012 Jun 15;21(12):2836-42. doi: 10.1093/hmg/dds103. Epub 2012 Mar 13.
• [19] Association between SNPs of Metalloproteinases and Prostaglandin F2 Receptor Genes and Latanoprost Response in Open-Angle Glaucoma.Ophthalmology. 2015 May;122(5):1040-8.e4. doi: 10.1016/j.ophtha.2014.12.038. Epub 2015 Feb 19.
• [20] Genetic association and stress mediated down-regulation in trabecular meshwork implicates MPP7 as a novel candidate gene in primary open angle glaucoma.BMC Med Genomics. 2016 Mar 22;9:15. doi: 10.1186/s12920-016-0177-6.
• [21] Common variants near ABCA1 and in PMM2 are associated with primary open-angle glaucoma.Nat Genet. 2014 Oct;46(10):1115-9. doi: 10.1038/ng.3078. Epub 2014 Aug 31.
• [22] Latanoprostene Bunod Ophthalmic Solution 0.024%: A Review in Open-Angle Glaucoma and Ocular Hypertension.Drugs. 2018 May;78(7):773-780. doi: 10.1007/s40265-018-0914-6.
• [23] Fine mapping of new glaucoma locus GLC1M and exclusion of neuregulin 2 as the causative gene.Mol Vis. 2007 May 23;13:779-84.
• [24] Evaluation of the OPTC gene in primary open angle glaucoma: functional significance of a silent change.BMC Mol Biol. 2007 Mar 14;8:21. doi: 10.1186/1471-2199-8-21.
• [25] Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
• [26] Common variants in CDKN2B-AS1 associated with optic-nerve vulnerability of glaucoma identified by genome-wide association studies in Japanese.PLoS One. 2012;7(3):e33389. doi: 10.1371/journal.pone.0033389. Epub 2012 Mar 12.
• [27] Variants in ASB10 are associated with open-angle glaucoma. Hum Mol Genet. 2012 Mar 15;21(6):1336-49. doi: 10.1093/hmg/ddr572. Epub 2011 Dec 8.
• [28] Upregulation of Copine1 in trabecular meshwork cells of POAG patients: a membrane proteomics approach.Mol Vis. 2008 May 30;14:1028-36.
• [29] Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus.Nat Genet. 2013 Feb;45(2):155-63. doi: 10.1038/ng.2506. Epub 2013 Jan 6.
• [30] Analysis combining correlated glaucoma traits identifies five new risk loci for open-angle glaucoma.Sci Rep. 2018 Feb 15;8(1):3124. doi: 10.1038/s41598-018-20435-9.
• [31] Delineation of Novel Compound Heterozygous Variants in LTBP2 Associated with Juvenile Open Angle Glaucoma.Genes (Basel). 2018 Oct 30;9(11):527. doi: 10.3390/genes9110527.
• [32] Exome Sequencing Reveals a Heterozygous OAS3 Mutation in a Chinese Family With Juvenile-Onset Open-Angle Glaucoma.Invest Ophthalmol Vis Sci. 2019 Oct 1;60(13):4277-4284. doi: 10.1167/iovs.19-27545.
• [33] Genome-wide association analyses identify three new susceptibility loci for primary angle closure glaucoma.Nat Genet. 2012 Oct;44(10):1142-1146. doi: 10.1038/ng.2390. Epub 2012 Aug 26.
• [34] Choroidal Microvasculature Dropout Is Associated with Progressive Retinal Nerve Fiber Layer Thinning in Glaucoma with Disc Hemorrhage.Ophthalmology. 2018 Jul;125(7):1003-1013. doi: 10.1016/j.ophtha.2018.01.016. Epub 2018 Mar 2.
• [35] Age-related changes in eye morphology and aqueous humor dynamics in DBA/2J mice using contrast-enhanced ocular MRI.Magn Reson Imaging. 2019 Jun;59:10-16. doi: 10.1016/j.mri.2019.01.016. Epub 2019 Jan 17.
• [36] Association of open-angle glaucoma loci with incident glaucoma in the Blue Mountains Eye Study.Am J Ophthalmol. 2015 Jan;159(1):31-6.e1. doi: 10.1016/j.ajo.2014.09.020. Epub 2014 Sep 19.
• [37] Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
• [38] Identification and functional characterisation of genetic variants in OLFM2 in children with developmental eye disorders.Hum Genet. 2017 Jan;136(1):119-127. doi: 10.1007/s00439-016-1745-8. Epub 2016 Nov 14.