Details for disease: glaucoma


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.


Title
glaucoma
KEGG ID
H00612    (more details)
OMIM ID
137750
DisGeNet ID
C0033999    (more details)
Involved Genes
TDRD7 / MYOC / OPTN / ASB10 / WDR36 / NTF4 / CYP1B1 / LTBP2 / CDKN2A / CDKN2B / MYLK / TGFB2 / SLC4A4 / CPAMD8 / TEK / OPA1 / CAV1 / CAV2 / FOXC1 / PTGS2 / ATXN2 / TXNRD2 / TMCO1 / FNDC3B / CDKN2B-AS1 / TP53BP2 / DDIT3 / NR3C1 / MMP1 / GLC1B / GLC1D / GLC1H / GLC1I / GLC1J / GLC1K / EFNA5 / GLC1N / GLC1P / GLC1C / GLC3C / GLC3B / GLCC / POAG / GPDS1 /

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