Details of Disease

General Information of Disease (ID: DISX8UKZ)

• Disease Name: Primary angle-closure glaucoma
• Synonyms: primary angle closure glaucoma
• Definition: An angle-closure glaucoma characterized by closure of the anterior chamber angle by an intrinsic defect such that aqueous outflow is blocked and the intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Primary angle-closure glaucoma has symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Primary angle closure glaucoma can be caused by anatomically narrow angle, defects in the trabecular meshwork, and iris abnormalities. Primary angle-closure glaucoma has a strong genetic component.
• Disease Hierarchy:
  DISZ95KY: Angle-closure glaucoma
  DISX8UKZ: Primary angle-closure glaucoma
• Disease Identifiers:
  MONDO ID: MONDO_0001868
  UMLS CUI: C0017606
  MedGen ID: 42225
  SNOMED CT ID: 392288006

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
SFRP4	TTX8I1Y	moderate	Genetic Variation	[1]
CALCRL	TTY6O0Q	Strong	Genetic Variation	[2]
CHAT	TTKYFSB	Strong	Genetic Variation	[3]
NTF4	TTIM2WO	Strong	Genetic Variation	[4]

This Disease Is Related to 1 DTP Molecule(s)

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

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
AKR1C4	DEAJN47	Limited	Genetic Variation	[6]

This Disease Is Related to 28 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GLIS3	OTBC960E	Limited	Genetic Variation	[3]
SPATA13	OTQ8NPAW	Limited	Autosomal dominant	[7]
BIRC6	OTCQJAB0	Disputed	Genetic Variation	[8]
PDIA5	OT76ZSX5	Disputed	Genetic Variation	[8]
C10orf53	OTAPN6SD	moderate	Genetic Variation	[1]
EPDR1	OT5JW5RB	moderate	Genetic Variation	[3]
FERMT2	OTZNPWWX	moderate	Genetic Variation	[3]
ACD	OTC54EPO	Strong	Biomarker	[3]
ATOH7	OTUBW5PV	Strong	Biomarker	[9]
DPM2	OTDERBWM	Strong	Genetic Variation	[3]
HLA-DPA1	OT7OG7Y2	Strong	Genetic Variation	[10]
HTR3C	OT65ZLIJ	Strong	Genetic Variation	[5]
HTR3D	OTP6L08T	Strong	Genetic Variation	[5]
KERA	OTAP9L2A	Strong	Genetic Variation	[11]
MFRP	OTHY9ZA5	Strong	Genetic Variation	[12]
MYOC	OT6DAHNF	Strong	Genetic Variation	[13]
NEB	OT7P9IR3	Strong	Biomarker	[14]
OPA3	OT6NDC1M	Strong	Biomarker	[15]
PACC1	OTKBS8CC	Strong	Genetic Variation	[16]
PARL	OT7DMHSA	Strong	Genetic Variation	[5]
PCMTD1	OT5TS6P7	Strong	Genetic Variation	[3]
PRSS56	OTPPXTBB	Strong	Genetic Variation	[17]
ST18	OTPRIMTA	Strong	Genetic Variation	[3]
TMCO1	OTSME34W	Strong	Genetic Variation	[18]
CIAO3	OT0V91PK	Definitive	Biomarker	[19]
COL11A1	OTB0DRMS	Definitive	Genetic Variation	[20]
DBN1	OTZVKG8A	Definitive	Altered Expression	[21]
PLEKHA7	OTNUMAZ0	Definitive	Genetic Variation	[20]

References

• [1] Genome-wide association study identifies five new susceptibility loci for primary angle closure glaucoma.Nat Genet. 2016 May;48(5):556-62. doi: 10.1038/ng.3540. Epub 2016 Apr 4.
• [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] 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.
• [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] 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.
• [7] 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.
• [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] Advances in glaucoma genetics.Prog Brain Res. 2015;220:107-26. doi: 10.1016/bs.pbr.2015.04.006. Epub 2015 Jul 2.
• [10] 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.
• [11] 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.
• [12] Association of Genes implicated in primary angle-closure Glaucoma and the ocular biometric parameters of anterior chamber depth and axial length in a northern Chinese population.BMC Ophthalmol. 2018 Oct 22;18(1):271. doi: 10.1186/s12886-018-0934-8.
• [13] 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.
• [14] 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.
• [15] 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.
• [16] 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.
• [17] Evaluation of PRSS56 in Chinese subjects with high hyperopia or primary angle-closure glaucoma.Mol Vis. 2013 Nov 7;19:2217-26. eCollection 2013.
• [18] 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.
• [19] 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.
• [20] COL11A1 Polymorphisms Are Associated with Primary Angle-Closure Glaucoma Severity.J Ophthalmol. 2019 Jan 27;2019:2604386. doi: 10.1155/2019/2604386. eCollection 2019.
• [21] 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.