| H00612 | |
| H number | H00612 |
| Name | Primary open angle glaucoma; Glaucoma 1 |
| Description | Primary open angle glaucoma (POAG) is the most prevalent form of glaucoma, and a major cause of irreversible blindness. POAG is often accompanied by ocular hypertension and characterized by progressive loss of retinal ganglion cells, atrophy of the optic nerve, and visual field loss. To date, at least 20 genetic loci for POAG have been reported. And four causative genes (CYP1B1, MYOC, OPTN, and WDR36) are identified from these loci. In addition, recently, heterozygous NTF4 mutation was associated with the phenotype in a small percentage of patients. |
| Category | Nervous system disease |
| Network | - |
| Gene | (GLC1A) MYOC [HSA:4653] [KO:K23027] (GLC1E) OPTN [HSA:10133] [KO:K19946] (GLC1F) ASB10 [HSA:136371] [KO:K10332] (GLC1G) WDR36 [HSA:134430] [KO:K14554] (GLC1O) NTF4 [HSA:4909] [KO:K12457] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | Timolol [DR:D00378] Timolol maleate [DR:D00603] Carteolol hydrochloride [DR:D00599] Betaxolol hydrochloride [DR:D00598] Brimonidine tartrate [DR:D02076] Mitomycin [DR:D00208] Pilocarpine hydrochloride [DR:D02200] Echothiophate iodide [DR:D02193] Acetazolamide [DR:D00218] Acetazolamide sodium [DR:D01196] Dorzolamide hydrochloride [DR:D00653] Brinzolamide [DR:D00652] Methazolamide [DR:D00655] Brinzolamide and brimonidine tartrate [DR:D10854] Levobunolol hydrochloride [DR:D01025] Metipranolol [DR:D02374] Dorzolamide hydrochloride and timolol maleate [DR:D08493] Brimonidine tartrate and timolol maleate [DR:D10298] Latanoprost [DR:D00356] Isopropyl unoprostone [DR:D01452] Bimatoprost [DR:D02724] Travoprost [DR:D01964] Tafluprost [DR:D06274] Latanoprostene bunod [DR:D10441] Netarsudil and latanoprost [DR:D11558] Netarsudil mesylate [DR:D11031] Omidenepag isopropyl [DR:D10966] |
| Comment | GLC1G is a ribosome biogenesis disorder. |
| Other DBs | ICD-11: 9C61.0 ICD-10: H40.1 MeSH: C564234 C567753 OMIM: 137750 137760 603383 609887 613100 |
| Reference | PMID:21655191 AUTHORS Carbone MA, Chen Y, Hughes GA, Weinreb RN, Zabriskie NA, Zhang K, Anholt RR TITLE Genes of the unfolded protein response pathway harbor risk alleles for primary open angle glaucoma. JOURNAL PLoS One 6:e20649 (2011) DOI:10.1371/journal.pone.0020649 PMID:16332362 AUTHORS Fan BJ, Wang DY, Lam DS, Pang CP TITLE Gene mapping for primary open angle glaucoma. JOURNAL Clin Biochem 39:249-58 (2006) DOI:10.1016/j.clinbiochem.2005.11.001 PMID:21730848 AUTHORS Khan AO TITLE Genetics of primary glaucoma. JOURNAL Curr Opin Ophthalmol 22:347-55 (2011) DOI:10.1097/ICU.0b013e32834922d2 PMID:20431268 AUTHORS Fuse N TITLE Genetic bases for glaucoma. JOURNAL Tohoku J Exp Med 221:1-10 (2010) DOI:10.1620/tjem.221.1 PMID:20174677 AUTHORS Freed EF, Bleichert F, Dutca LM, Baserga SJ TITLE When ribosomes go bad: diseases of ribosome biogenesis. JOURNAL Mol Biosyst 6:481-93 (2010) DOI:10.1039/b919670f PMID:9005853 (GLC1A) AUTHORS Stone EM, Fingert JH, Alward WL, Nguyen TD, Polansky JR, Sunden SL, Nishimura D, Clark AF, Nystuen A, Nichols BE, Mackey DA, Ritch R, Kalenak JW, Craven ER, Sheffield VC TITLE Identification of a gene that causes primary open angle glaucoma. JOURNAL Science 275:668-70 (1997) DOI:10.1126/science.275.5300.668 PMID:11834836 (GLC1E) AUTHORS Rezaie T, Child A, Hitchings R, Brice G, Miller L, Coca-Prados M, Heon E, Krupin T, Ritch R, Kreutzer D, Crick RP, Sarfarazi M TITLE Adult-onset primary open-angle glaucoma caused by mutations in optineurin. JOURNAL Science 295:1077-9 (2002) DOI:10.1126/science.1066901 PMID:22156576 (GLC1F) AUTHORS Pasutto F, Keller KE, Weisschuh N, Sticht H, Samples JR, Yang YF, Zenkel M, Schlotzer-Schrehardt U, Mardin CY, Frezzotti P, Edmunds B, Kramer PL, Gramer E, Reis A, Acott TS, Wirtz MK TITLE Variants in ASB10 are associated with open-angle glaucoma. JOURNAL Hum Mol Genet 21:1336-49 (2012) DOI:10.1093/hmg/ddr572 PMID:15677485 (GLC1G) AUTHORS Monemi S, Spaeth G, DaSilva A, Popinchalk S, Ilitchev E, Liebmann J, Ritch R, Heon E, Crick RP, Child A, Sarfarazi M TITLE Identification of a novel adult-onset primary open-angle glaucoma (POAG) gene on 5q22.1. JOURNAL Hum Mol Genet 14:725-33 (2005) DOI:10.1093/hmg/ddi068 PMID:19765683 (GLC1O) AUTHORS Pasutto F, Matsumoto T, Mardin CY, Sticht H, Brandstatter JH, Michels-Rautenstrauss K, Weisschuh N, Gramer E, Ramdas WD, van Koolwijk LM, Klaver CC, Vingerling JR, Weber BH, Kruse FE, Rautenstrauss B, Barde YA, Reis A TITLE Heterozygous NTF4 mutations impairing neurotrophin-4 signaling in patients with primary open-angle glaucoma. JOURNAL Am J Hum Genet 85:447-56 (2009) DOI:10.1016/j.ajhg.2009.08.016 |