KEGG   DISEASE: H00612Help
Entry
H00612                      Disease                                

Name
Primary open angle glaucoma
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; Eye disease
BRITE hierarchy
Pathway
hsa03008 Ribosome biogenesis in eukaryotes  
 
Gene
(GLC1A) MYOC [HSA:4653]
(GLC1A) CYP1B1 [HSA:1545] [KO:K07410]
(GLC1E) OPTN [HSA:10133]
(GLC1G) WDR36 [HSA:134430] [KO:K14554]
(GLC1O) NTF4 [HSA:4909] [KO:K12457]
Drug
Acetazolamide [DG:DG01134]
Betaxolol [DG:DG00315]
Brinzolamide [DR:D00652]
Bunazosin [DG:DG01316]
Carteolol [DG:DG00308]
Distigmine [DR:D01228]
Dorzolamide [DG:DG01135]
Isopropyl unoprostone [DG:DG01139]
Isosorbide [DR:D00347]
Latanoprost [DR:D00356]
Levobunolol [DG:DG01136]
Nipradilol [DR:D01691]
Pilocarpine [DG:DG00992]
Timolol maleate [DG:DG00306]
Travoprost [DR:D01964]
Comment
GLC1G is a ribosome biogenesis disorder.
Other DBs
Reference
  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)
Reference
  Authors
Fan BJ, Wang DY, Lam DS, Pang CP
  Title
Gene mapping for primary open angle glaucoma.
  Journal
Clin Biochem 39:249-58 (2006)
Reference
  Authors
Khan AO
  Title
Genetics of primary glaucoma.
  Journal
Curr Opin Ophthalmol 22:347-55 (2011)
Reference
  Authors
Fuse N
  Title
Genetic bases for glaucoma.
  Journal
Tohoku J Exp Med 221:1-10 (2010)
Reference
  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)

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