Details of Disease

General Information of Disease (ID: DISZ95KY)

• Disease Name: Angle-closure glaucoma
• Synonyms: primary open-angle glaucoma with narrow angles; angle closure glaucoma; Narrow cleft glaucoma; ACG - angle-closure glaucoma
• Definition: The sudden increase of intraocular pressure, resulting in pain and an abrupt decrease in visual acuity.
• Disease Hierarchy:
  DISLBXBY: Glaucoma/ocular hypertension
  DISZ95KY: Angle-closure glaucoma
• Disease Identifiers:
  MONDO ID: MONDO_0001744
  MESH ID: D015812
  UMLS CUI: C0017605
  MedGen ID: 6610
  HPO ID: HP:0012109
  SNOMED CT ID: 392291006

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 4 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CHAT	TTKYFSB	moderate	Genetic Variation	[1]
CALCRL	TTY6O0Q	Strong	Genetic Variation	[2]
DCLK3	TTMYK4Z	Strong	Genetic Variation	[3]
NTF4	TTIM2WO	Strong	Genetic Variation	[4]

This Disease Is Related to 2 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
ABCC5	DTYVM24	Strong	Biomarker	[5]
SLC7A7	DTE4HJ8	Strong	Biomarker	[6]

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
AKR1C4	DEAJN47	Limited	Genetic Variation	[7]

This Disease Is Related to 28 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
BIRC6	OTCQJAB0	Disputed	Genetic Variation	[8]
PDIA5	OT76ZSX5	Disputed	Genetic Variation	[8]
BEST1	OTWHE1ZC	moderate	Genetic Variation	[9]
GLIS3	OTBC960E	moderate	Genetic Variation	[1]
PRSS56	OTPPXTBB	moderate	Genetic Variation	[10]
ACD	OTC54EPO	Strong	Biomarker	[1]
ATOH7	OTUBW5PV	Strong	Biomarker	[11]
COL11A1	OTB0DRMS	Strong	Genetic Variation	[12]
DPM2	OTDERBWM	Strong	Genetic Variation	[1]
EPDR1	OT5JW5RB	Strong	Genetic Variation	[1]
FERMT2	OTZNPWWX	Strong	Genetic Variation	[1]
HLA-DPA1	OT7OG7Y2	Strong	Genetic Variation	[13]
HTR3C	OT65ZLIJ	Strong	Genetic Variation	[5]
HTR3D	OTP6L08T	Strong	Genetic Variation	[5]
KERA	OTAP9L2A	Strong	Genetic Variation	[14]
MYOC	OT6DAHNF	Strong	Genetic Variation	[15]
MYRF	OTKF6AEB	Strong	Biomarker	[16]
NEB	OT7P9IR3	Strong	Biomarker	[17]
OPA3	OT6NDC1M	Strong	Biomarker	[18]
PACC1	OTKBS8CC	Strong	Genetic Variation	[19]
PARL	OT7DMHSA	Strong	Genetic Variation	[5]
PCMTD1	OT5TS6P7	Strong	Genetic Variation	[1]
PEX19	OTQIDE9Z	Strong	Biomarker	[20]
PLEKHA7	OTNUMAZ0	Strong	Genetic Variation	[12]
ST18	OTPRIMTA	Strong	Genetic Variation	[1]
TMCO1	OTSME34W	Strong	Genetic Variation	[21]
CIAO3	OT0V91PK	Definitive	Biomarker	[22]
DBN1	OTZVKG8A	Definitive	Altered Expression	[23]

References

• [1] Integration of Genetic and Biometric Risk Factors for Detection of Primary Angle Closure Glaucoma.Am J Ophthalmol. 2019 Dec;208:160-165. doi: 10.1016/j.ajo.2019.07.022. Epub 2019 Aug 1.
• [2] A cross-ethnicity investigation of genes previously implicated in primary angle closure glaucoma.Mol Vis. 2012;18:2247-54. Epub 2012 Aug 10.
• [3] Transgenic mice with ocular overexpression of an adrenomedullin receptor reflect human acute angle-closure glaucoma.Clin Sci (Lond). 2008 Jan;114(1):49-58. doi: 10.1042/CS20070163.
• [4] Association of eNOS polymorphisms with primary angle-closure glaucoma.Invest Ophthalmol Vis Sci. 2013 Mar 1;54(3):2108-14. doi: 10.1167/iovs.12-11391.
• [5] Genetic Association of the PARL-ABCC5-HTR3D-HTR3C Locus With Primary Angle-Closure Glaucoma in Chinese.Invest Ophthalmol Vis Sci. 2017 Aug 1;58(10):4384?389. doi: 10.1167/iovs.17-22304.
• [6] Has the EAGLE landed for the use of clear lens extraction in angle-closure glaucoma? And how should primary angle-closure suspects be treated?.Eye (Lond). 2020 Jan;34(1):40-50. doi: 10.1038/s41433-019-0634-5. Epub 2019 Oct 24.
• [7] Blood Levels of Tumor Necrosis Factor Alpha and Its Type 2 Receptor Are Elevated in Patients with Boston Type I Keratoprosthesis.Curr Eye Res. 2019 Jun;44(6):599-606. doi: 10.1080/02713683.2019.1568500. Epub 2019 Feb 4.
• [8] Association of a polymorphism in the BIRC6 gene with pseudoexfoliative glaucoma.PLoS One. 2014 Aug 13;9(8):e105023. doi: 10.1371/journal.pone.0105023. eCollection 2014.
• [9] Flat Anterior Chamber after Trabeculectomy in Secondary Angle-Closure Glaucoma with BEST1 Gene Mutation: Case Series.PLoS One. 2017 Jan 5;12(1):e0169395. doi: 10.1371/journal.pone.0169395. eCollection 2017.
• [10] Evaluation of PRSS56 in Chinese subjects with high hyperopia or primary angle-closure glaucoma.Mol Vis. 2013 Nov 7;19:2217-26. eCollection 2013.
• [11] Advances in glaucoma genetics.Prog Brain Res. 2015;220:107-26. doi: 10.1016/bs.pbr.2015.04.006. Epub 2015 Jul 2.
• [12] COL11A1 Polymorphisms Are Associated with Primary Angle-Closure Glaucoma Severity.J Ophthalmol. 2019 Jan 27;2019:2604386. doi: 10.1155/2019/2604386. eCollection 2019.
• [13] HLA-DPA1 gene polymorphism in primary glaucoma.Eur Rev Med Pharmacol Sci. 2019 Aug;23(3 Suppl):24-30. doi: 10.26355/eurrev_201908_18623.
• [14] A Novel KERA Mutation in a Case of Autosomal Recessive Cornea Plana With Primary Angle-Closure Glaucoma.J Glaucoma. 2016 Feb;25(2):e106-9. doi: 10.1097/IJG.0000000000000258.
• [15] Haplotype analysis of association of the MYOC gene with primary angle-closure glaucoma in a Han Chinese population.Genet Test Mol Biomarkers. 2015 Jan;19(1):3-8. doi: 10.1089/gtmb.2014.0130.
• [16] Novel truncation mutations in MYRF cause autosomal dominant high hyperopia mapped to 11p12-q13.3.Hum Genet. 2019 Oct;138(10):1077-1090. doi: 10.1007/s00439-019-02039-z. Epub 2019 Jun 6.
• [17] Variants in Nebulin (NEB) Are Linked to the Development of Familial Primary Angle Closure Glaucoma in Basset Hounds.PLoS One. 2015 May 4;10(5):e0126660. doi: 10.1371/journal.pone.0126660. eCollection 2015.
• [18] Nuclear and mitochondrial analysis of patients with primary angle-closure glaucoma.Invest Ophthalmol Vis Sci. 2007 Dec;48(12):5591-6. doi: 10.1167/iovs.07-0780.
• [19] The effect of phacoemulsification plus goniosynechialysis in acute and chronic angle closure patients with extensive goniosynechiae.BMC Ophthalmol. 2019 Mar 4;19(1):65. doi: 10.1186/s12886-019-1070-9.
• [20] Functional Activity of Matrix Metalloproteinases 2 and 9 in Tears of Patients With Glaucoma.Invest Ophthalmol Vis Sci. 2017 May 1;58(6):BIO106-BIO113. doi: 10.1167/iovs.17-21723.
• [21] Association of known common genetic variants with primary open angle, primary angle closure, and pseudoexfoliation glaucoma in Pakistani cohorts.Mol Vis. 2014 Nov 4;20:1471-9. eCollection 2014.
• [22] 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.
• [23] 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.