Details of Disease

Disease Name

OPTN-related open angle glaucoma

OPTN-related open angle glaucoma; glaucoma 1, open angle, E

Definition

Any open angle glaucoma in which the cause of the disease is a mutation in the OPTN gene.

Disease Hierarchy

DISSZEE8: Open-angle glaucoma

DISJYSR1: Hereditary glaucoma

DISDR98A: OPTN-related open angle glaucoma

Disease Identifiers

MONDO ID

MONDO_0100553

MESH ID

D005902

UMLS CUI

C0339573

OMIM ID

137760

MedGen ID

87389

SNOMED CT ID

77075001

General Information of Disease (ID: DISDR98A)

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)

This Disease is Treated as An Indication in 1 Approved Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Latanoprost	DMI5OXG	Approved	Small molecular drug	[1]
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Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 27 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CDC7	TTSMTDI	Limited	Genetic Variation	[2]
CYP46A1	TT4EB85	Limited	Genetic Variation	[3]
FOXC1	TTNT3YA	Limited	Biomarker	[4]
IL20	TTNZMY2	Limited	Genetic Variation	[5]
PPID	TTNAFOU	Limited	Altered Expression	[6]
PPIF	TTRFQTB	Limited	Altered Expression	[6]
SPOCK1	TTF23RE	Limited	Genetic Variation	[7]
ATXN2	TTPQJ7P	Disputed	Biomarker	[4]
CAV1	TTXUBN2	Disputed	Genetic Variation	[8]
CLCN2	TT30NW6	Disputed	Biomarker	[9]
LHCGR	TT2O4W9	Disputed	Genetic Variation	[10]
TRPM5	TT1N8F3	Disputed	Genetic Variation	[11]
ABCA1	TTJW1GN	moderate	Genetic Variation	[12]
CDK9	TT1LVF2	Strong	Biomarker	[13]
GALC	TT5IZRB	Strong	Genetic Variation	[14]
MUTYH	TTNB0ZK	Strong	Genetic Variation	[15]
NTF4	TTIM2WO	Strong	Biomarker	[16]
PTGFR	TTT2ZAR	Strong	Genetic Variation	[17]
SLC23A2	TTOP832	Strong	Genetic Variation	[18]
CACNA2D1	TTFK1JQ	Definitive	Genetic Variation	[19]
CALCRL	TTY6O0Q	Definitive	Biomarker	[20]
CNTF	TTGEM5Q	Definitive	Biomarker	[21]
ICA1	TTMX06B	Definitive	Biomarker	[22]
MAP3K1	TTW8TJI	Definitive	Biomarker	[12]
MFGE8	TT1GLAJ	Definitive	Biomarker	[23]
NPPC	TTRK0B9	Definitive	Biomarker	[13]
PTPRJ	TTWMKXP	Definitive	Biomarker	[22]
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⏷ Show the Full List of 27 DTT(s)

This Disease Is Related to 2 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
ATP10A	DTTQ8WI	Limited	Genetic Variation	[7]
SLCO6A1	DTIFXNS	Strong	Genetic Variation	[24]
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This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
GMDS	DE8K7F3	Strong	Genetic Variation	[17]
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This Disease Is Related to 95 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ADAMTSL3	OTMC2WFG	Limited	Altered Expression	[25]
AFAP1	OTR473H8	Limited	Genetic Variation	[12]
ASB10	OTYSZ9V6	Limited	Genetic Variation	[26]
CNTNAP4	OTKXR9AW	Limited	Genetic Variation	[27]
COL8A1	OTWBTED2	Limited	Biomarker	[28]
COX1	OTG3O9BN	Limited	Genetic Variation	[29]
ELOVL5	OT375W1Z	Limited	Genetic Variation	[30]
FBLN1	OT5MHHOP	Limited	Biomarker	[31]
FLOT1	OT0JPPJZ	Limited	Biomarker	[32]
FZR1	OT0WGWZS	Limited	Genetic Variation	[33]
GAS1	OTKJXG52	Limited	Genetic Variation	[7]
GSTM2	OTG4WT05	Limited	Genetic Variation	[34]
HYAL3	OTG6VUSP	Limited	Biomarker	[35]
NTM	OTHF0UQU	Limited	Genetic Variation	[27]
OGN	OTKP5S4L	Limited	Altered Expression	[36]
OPTC	OTCASGO0	Limited	Biomarker	[37]
PADI2	OTT40K94	Limited	Biomarker	[38]
PCOLCE2	OTSUEQZ1	Limited	Genetic Variation	[39]
PEX5	OTK4LMG7	Limited	Genetic Variation	[40]
RPGRIP1	OTABESO9	Limited	Genetic Variation	[41]
SRSF3	OTOFT707	Limited	Genetic Variation	[42]
STIP1	OT7TXLOX	Limited	Genetic Variation	[43]
TP53BP2	OTOWJ2Y4	Limited	Biomarker	[44]
B4GALT3	OTHX77K8	Disputed	Genetic Variation	[45]
CAV2	OT1FGRQX	Disputed	Genetic Variation	[46]
CNTN4	OTULXVE0	Disputed	Biomarker	[47]
COL15A1	OTTFKK18	Disputed	Genetic Variation	[48]
FBLN5	OTLVNZ8U	Disputed	Biomarker	[49]
FUT7	OTJF6BSN	Disputed	Genetic Variation	[10]
LGALS14	OTOR23GX	Disputed	Biomarker	[9]
MLXIP	OT30UNI7	Disputed	Genetic Variation	[50]
MYLIP	OTL0PFGV	Disputed	Genetic Variation	[50]
PKHD1	OTAH8SMF	Disputed	Genetic Variation	[10]
RHOD	OTALMEIN	Disputed	Genetic Variation	[51]
RPN2	OTJ1SKOA	Disputed	Genetic Variation	[52]
TIMP4	OT8A68SW	Disputed	Biomarker	[53]
ARSD	OTAHW9M8	moderate	Genetic Variation	[54]
GAS7	OT0M5TNY	moderate	Genetic Variation	[55]
ADAMTS10	OTNJ9VSU	Strong	Biomarker	[56]
ARHGEF7	OT9BPJCL	Strong	Biomarker	[57]
ASCC1	OTH4VAP9	Strong	Biomarker	[57]
CARD10	OT2RPM4I	Strong	SusceptibilityMutation	[58]
CCHCR1	OT22C116	Strong	Biomarker	[59]
COL5A1	OT24078H	Strong	Biomarker	[60]
COL8A2	OTASWJ69	Strong	Genetic Variation	[61]
FLNB	OTPCOYL6	Strong	Genetic Variation	[18]
GSTK1	OTDNGWAF	Strong	Genetic Variation	[24]
GUCY1A1	OTPTCBUN	Strong	Biomarker	[62]
IL17B	OTS86H50	Strong	Genetic Variation	[5]
IL20RB	OTHFXK95	Strong	Genetic Variation	[63]
LMX1B	OTM8145D	Strong	Biomarker	[3]
LTBP2	OTS88GSD	Strong	Genetic Variation	[64]
MINDY4	OTBZ2SZB	Strong	Altered Expression	[65]
MMRN1	OT7ZNYHT	Strong	Biomarker	[60]
NXF1	OTEFHXG6	Strong	Genetic Variation	[18]
PLXDC2	OTS1FUV6	Strong	Genetic Variation	[66]
PLXNA2	OTNNBJMQ	Strong	Biomarker	[67]
SEC14L2	OTJST64D	Strong	Genetic Variation	[18]
SELENBP1	OT3NZNTR	Strong	Biomarker	[59]
SH3PXD2B	OTAOMCDJ	Strong	Genetic Variation	[68]
SIX6	OTD1RD9D	Strong	Genetic Variation	[69]
SRBD1	OTL1QJSP	Strong	Genetic Variation	[70]
TGFBR3	OTQOOUC4	Strong	Genetic Variation	[2]
TMTC2	OTY1QWYU	Strong	Genetic Variation	[66]
ADAMTS17	OTCFITM9	Definitive	Genetic Variation	[71]
AGBL2	OTCX9987	Definitive	Biomarker	[22]
APBB2	OT1VD51B	Definitive	Genetic Variation	[72]
ARHGEF12	OTM2D3LT	Definitive	Biomarker	[22]
ASCC2	OT3B204T	Definitive	Biomarker	[73]
CCL16	OTOOQI1F	Definitive	Biomarker	[74]
CIAO3	OT0V91PK	Definitive	Biomarker	[75]
COL5A2	OT5VOSQE	Definitive	Biomarker	[76]
DBN1	OTZVKG8A	Definitive	Altered Expression	[77]
DDX20	OT6G8YF3	Definitive	Genetic Variation	[78]
DNASE1L3	OTEUIMC2	Definitive	Genetic Variation	[79]
EBF1	OTZ61YYH	Definitive	Altered Expression	[80]
FNDC3B	OTBILGDR	Definitive	Biomarker	[81]
GLCCI1	OTU0R1CU	Definitive	Biomarker	[22]
HEYL	OTN7BH79	Definitive	Biomarker	[82]
IDH3A	OT5QQB5L	Definitive	Biomarker	[83]
ITIH4	OT460OO1	Definitive	Biomarker	[83]
MARCHF9	OTWF84QT	Definitive	Biomarker	[84]
MPP7	OT3G3HTZ	Definitive	Biomarker	[85]
MVB12B	OTO6D2GZ	Definitive	Biomarker	[22]
MZB1	OT071TET	Definitive	Altered Expression	[80]
ND2	OTG9OHOX	Definitive	Genetic Variation	[86]
OAS3	OT6E5FYS	Definitive	Biomarker	[73]
PRDM5	OTU1GB68	Definitive	Biomarker	[76]
PRPF8	OTU39JZI	Definitive	Genetic Variation	[87]
RAMP2	OTGQXLH5	Definitive	Biomarker	[20]
RAN	OT2TER5M	Definitive	Genetic Variation	[78]
RTCA	OTSJRVTD	Definitive	Biomarker	[88]
SART3	OTC1AM7S	Definitive	Biomarker	[73]
SPRR2A	OT62ZU6B	Definitive	Biomarker	[89]
SRL	OT7IEBWZ	Definitive	Genetic Variation	[90]
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⏷ Show the Full List of 95 DOT(s)

References

1	Latanoprost FDA Label
2	A common variant near TGFBR3 is associated with primary open angle glaucoma.Hum Mol Genet. 2015 Jul 1;24(13):3880-92. doi: 10.1093/hmg/ddv128. Epub 2015 Apr 10.
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27	Genome-wide analysis of central corneal thickness in primary open-angle glaucoma cases in the NEIGHBOR and GLAUGEN consortia.Invest Ophthalmol Vis Sci. 2012 Jul 3;53(8):4468-74. doi: 10.1167/iovs.12-9784.
28	Distribution of COL8A2 and COL8A1 gene variants in Caucasian primary open angle glaucoma patients with thin central corneal thickness.Mol Vis. 2010 Oct 29;16:2185-91.
29	The MT-CO1 V83I Polymorphism is a Risk Factor for Primary Open-Angle Glaucoma in African American Men.Invest Ophthalmol Vis Sci. 2018 Apr 1;59(5):1751-1759. doi: 10.1167/iovs.17-23277.
30	Association between SRBD1 and ELOVL5 gene polymorphisms and primary open-angle glaucoma.Invest Ophthalmol Vis Sci. 2011 Jun 28;52(7):4626-9. doi: 10.1167/iovs.11-7382.
31	Differential global and extra-cellular matrix focused gene expression patterns between normal and glaucomatous human lamina cribrosa cells.Mol Vis. 2009;15:76-88. Epub 2009 Jan 15.
32	Identification of flotillin-1 as a protein interacting with myocilin: implications for the pathogenesis of primary open-angle glaucoma.Biochem Biophys Res Commun. 2005 Nov 4;336(4):1201-6. doi: 10.1016/j.bbrc.2005.09.006.
33	Association of E-cadherin gene 3'-UTR C/T polymorphism with primary open angle glaucoma.Ophthalmic Res. 2006;38(1):44-8. doi: 10.1159/000089523. Epub 2005 Nov 7.
34	Glutathione S transferase M1 and T1 genetic polymorphisms are related to the risk of primary open-angle glaucoma: a study in a Turkish population.Br J Ophthalmol. 2007 Apr;91(4):527-30. doi: 10.1136/bjo.2006.102418. Epub 2006 Sep 14.
35	Genetic association and gene-gene interaction of HAS2, HABP1 and HYAL3 implicate hyaluronan metabolic genes in glaucomatous neurodegeneration.Dis Markers. 2012;33(3):145-54. doi: 10.1155/2012/390539.
36	Detection of differentially expressed glycogenes in trabecular meshwork of eyes with primary open-angle glaucoma.Invest Ophthalmol Vis Sci. 2006 Apr;47(4):1491-9. doi: 10.1167/iovs.05-0736.
37	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.
38	Proteomics implicates peptidyl arginine deiminase 2 and optic nerve citrullination in glaucoma pathogenesis.Invest Ophthalmol Vis Sci. 2006 Jun;47(6):2508-14. doi: 10.1167/iovs.05-1499.
39	Identification and expression of a novel type I procollagen C-proteinase enhancer protein gene from the glaucoma candidate region on 3q21-q24.Genomics. 2000 Jun 15;66(3):264-73. doi: 10.1006/geno.2000.6229.
40	Glaucoma-causing myocilin mutants require the Peroxisomal targeting signal-1 receptor (PTS1R) to elevate intraocular pressure.Hum Mol Genet. 2007 Mar 15;16(6):609-17. doi: 10.1093/hmg/ddm001. Epub 2007 Feb 22.
41	Evidence for RPGRIP1 gene as risk factor for primary open angle glaucoma.Eur J Hum Genet. 2011 Apr;19(4):445-51. doi: 10.1038/ejhg.2010.217. Epub 2011 Jan 12.
42	Assessment of SNPs associated with the human glucocorticoid receptor in primary open-angle glaucoma and steroid responders.Mol Vis. 2010 Apr 3;16:596-601.
43	Co-variation of STI1 and WDR36/UTP21 alters cell proliferation in a glaucoma model.Mol Vis. 2011;17:1957-69. Epub 2011 Jul 19.
44	Identification of TP53BP2 as a Novel Candidate Gene for Primary Open Angle Glaucoma by Whole Exome Sequencing in a Large Multiplex Family.Mol Neurobiol. 2018 Feb;55(2):1387-1395. doi: 10.1007/s12035-017-0403-z. Epub 2017 Feb 1.
45	Identification of Mutations in Myocilin and Beta-1,4-galactosyltransferase 3 Genes in a Chinese Family with Primary Open-angle Glaucoma.Chin Med J (Engl). 2016 Dec 5;129(23):2810-2815. doi: 10.4103/0366-6999.194641.
46	Investigation of CAV1/CAV2 rs4236601 and CDKN2B-AS1 rs2157719 in primary open-angle glaucoma patients from Brazil.Ophthalmic Genet. 2018 Apr;39(2):194-199. doi: 10.1080/13816810.2017.1393830. Epub 2017 Nov 7.
47	Gene-rich large deletions are overrepresented in POAG patients of Indian and Caucasian origins.Invest Ophthalmol Vis Sci. 2014 Apr 24;55(5):3258-64. doi: 10.1167/iovs.14-14339.
48	Variations in COL15A1 and COL18A1 influence age of onset of primary open angle glaucoma.Clin Genet. 2013 Aug;84(2):167-74. doi: 10.1111/cge.12176. Epub 2013 May 27.
49	Autophagy and Mitochondrial Dysfunction in Tenon Fibroblasts from Exfoliation Glaucoma Patients.PLoS One. 2016 Jul 8;11(7):e0157404. doi: 10.1371/journal.pone.0157404. eCollection 2016.
50	A Common Variant in MIR182 Is Associated With Primary Open-Angle Glaucoma in the NEIGHBORHOOD Consortium.Invest Ophthalmol Vis Sci. 2016 Aug 1;57(10):4528-4535. doi: 10.1167/iovs.16-19688.
51	Toward Novel Diagnostics for Primary Open-Angle Glaucoma? An Association Study of Polymorphic Variation in Ras Homolog Family Member (A, B, C, D) Genes RHOA, RHOB, RHOC, and RHOD.OMICS. 2016 May;20(5):290-5. doi: 10.1089/omi.2016.0031.
52	A genome-wide association study for primary open angle glaucoma and macular degeneration reveals novel Loci.PLoS One. 2013;8(3):e58657. doi: 10.1371/journal.pone.0058657. Epub 2013 Mar 11.
53	TIMP1, TIMP2, and TIMP4 are increased in aqueous humor from primary open angle glaucoma patients.Mol Vis. 2015 Oct 13;21:1162-72. eCollection 2015.
54	Analysis of CYP1B1 in pediatric and adult glaucoma and other ocular phenotypes.Mol Vis. 2016 Oct 17;22:1229-1238. eCollection 2016.
55	Association of polymorphism rs11656696 in GAS7 with primary open-Angle Glaucoma in a Chinese Population.Ophthalmic Genet. 2019 Jun;40(3):237-241. doi: 10.1080/13816810.2019.1627465. Epub 2019 Jul 4.
56	The microfibril hypothesis of glaucoma: implications for treatment of elevated intraocular pressure.J Ocul Pharmacol Ther. 2014 Mar-Apr;30(2-3):170-80. doi: 10.1089/jop.2013.0184. Epub 2014 Feb 12.
57	Role of Pattern Electroretinogram in Ocular Hypertension and Early Glaucoma.J Glaucoma. 2019 Oct;28(10):871-877. doi: 10.1097/IJG.0000000000001325.
58	Rare variants in optic disc area gene CARD10 enriched in primary open-angle glaucoma.Mol Genet Genomic Med. 2016 Oct 3;4(6):624-633. doi: 10.1002/mgg3.248. eCollection 2016 Nov.
59	Inter-relationship between ocular perfusion pressure, blood pressure, intraocular pressure profiles and primary open-angle glaucoma: the Singapore Epidemiology of Eye Diseases study.Br J Ophthalmol. 2018 Oct;102(10):1402-1406. doi: 10.1136/bjophthalmol-2017-311359. Epub 2018 Jan 13.
60	Identification of genes associated with primary open-angle glaucoma by bioinformatics approach.Int Ophthalmol. 2018 Feb;38(1):19-28. doi: 10.1007/s10792-017-0704-2. Epub 2017 Sep 11.
61	The genetics of POAG in black South Africans: a candidate gene association study.Sci Rep. 2015 Feb 11;5:8378. doi: 10.1038/srep08378.
62	Soluble guanylate cyclase 1-deficient mice: a novel murine model for primary open angle glaucoma.PLoS One. 2013;8(3):e60156. doi: 10.1371/journal.pone.0060156. Epub 2013 Mar 20.
63	The Role of the IL-20 Subfamily in Glaucoma.Mediators Inflamm. 2016;2016:4083735. doi: 10.1155/2016/4083735. Epub 2016 Jan 20.
64	Contribution of the latent transforming growth factor- binding protein 2 gene to etiology of primary open angle glaucoma and pseudoexfoliation syndrome.Mol Vis. 2013;19:333-47. Epub 2013 Feb 7.
65	Increased aquaporin-1 levels in lens epithelial cells with primary angle-closure glaucoma.Int J Ophthalmol. 2017 Jul 18;10(7):1101-1105. doi: 10.18240/ijo.2017.07.13. eCollection 2017.
66	Genetic Variant Near PLXDC2 Influences the Risk of Primary Open-angle Glaucoma by Increasing Intraocular Pressure in the Japanese Population.J Glaucoma. 2017 Nov;26(11):963-966. doi: 10.1097/IJG.0000000000000790.
67	Macular Vascularity in Ischemic Optic Neuropathy Compared to Glaucoma by Projection-Resolved Optical Coherence Tomography Angiography.Am J Ophthalmol. 2020 Jan;209:27-34. doi: 10.1016/j.ajo.2019.09.015. Epub 2019 Sep 25.
68	Localization of SH3PXD2B in human eyes and detection of rare variants in patients with anterior segment diseases and glaucoma.Mol Vis. 2012;18:705-13. Epub 2012 Mar 26.
69	Association of the SIX6 locus with primary open angle glaucoma in southern Chinese and Japanese.Exp Eye Res. 2019 Mar;180:129-136. doi: 10.1016/j.exer.2018.12.014. Epub 2018 Dec 23.
70	Involvement of genetic variants associated with primary open-angle glaucoma in pathogenic mechanisms and family history of glaucoma.Am J Ophthalmol. 2015 Mar;159(3):437-44.e2. doi: 10.1016/j.ajo.2014.11.023. Epub 2014 Nov 18.
71	Unusual life cycle and impact on microfibril assembly of ADAMTS17, a secreted metalloprotease mutated in genetic eye disease.Sci Rep. 2017 Feb 8;7:41871. doi: 10.1038/srep41871.
72	Association of Genetic Variants With Primary Open-Angle Glaucoma Among Individuals With African Ancestry.JAMA. 2019 Nov 5;322(17):1682-1691. doi: 10.1001/jama.2019.16161.
73	A comparative study of structural, functional and circulatory parameters in glaucoma diagnostics.PLoS One. 2018 Aug 23;13(8):e0201599. doi: 10.1371/journal.pone.0201599. eCollection 2018.
74	Age-related aqueous humor (AH) and lens epithelial cell/capsule protein carbonylation and AH protein concentration in cataract patients who have pseudoexfoliative diseases.Mol Vis. 2018 Dec 31;24:890-901. eCollection 2018.
75	Comparison of self-measured diurnal intraocular pressure profiles using rebound tonometry between primary angle closure glaucoma and primary open angle glaucoma patients.PLoS One. 2017 Mar 23;12(3):e0173905. doi: 10.1371/journal.pone.0173905. eCollection 2017.
76	Genetic factors influencing the reduction of central corneal thickness in disorders affecting the eye.Ophthalmic Genet. 2017 Dec;38(6):501-510. doi: 10.1080/13816810.2017.1313993. Epub 2017 Apr 28.
77	Elevated Plasma Levels of Drebrin in Glaucoma Patients With Neurodegeneration.Front Neurosci. 2019 Apr 3;13:326. doi: 10.3389/fnins.2019.00326. eCollection 2019.
78	Analysis of the polymorphic variants of RAN and GEMIN3 genes and risk of Primary Open-Angle Glaucoma in the Polish population.Ophthalmic Genet. 2018 Apr;39(2):180-188. doi: 10.1080/13816810.2017.1381978. Epub 2017 Nov 2.
79	Association between Platelet Parameters and Glaucoma Severity in Primary Open-Angle Glaucoma.J Ophthalmol. 2019 May 9;2019:3425023. doi: 10.1155/2019/3425023. eCollection 2019.
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81	Genetic Architecture of Primary Open-Angle Glaucoma in Individuals of African Descent: The African Descent and Glaucoma Evaluation Study III.Ophthalmology. 2019 Jan;126(1):38-48. doi: 10.1016/j.ophtha.2018.10.031. Epub 2018 Oct 21.
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