KEGG DISEASE: 近視

DISEASE: 近視

エントリ

H02041

名称

近視

概要

Myopia is the most common ocular disorder worldwide, and high myopia in particular is one of the leading causes of blindness. Nonsyndromic, high myopia is highly heritable, and to date a few causative genes have been identified. It was reported that high myopia with cataract and vitreoretinal degeneration (MCVD) is caused by homozygous mutation in the LEPREL1 (P3H2) gene.

カテゴリ

神経系疾患

階層分類

ICD-11 による疾患分類 [BR:jp08403]
09 視覚系の疾患
  屈折または調節の疾患
   9D00  屈折の疾患
    H02041  近視

病因遺伝子

(MYP6) SCO2 [HSA:9997] [KO:K23755]
(MYP21) ZNF644 [HSA:84146] [KO:K24374]
(MYP22) PRIMPOL [HSA:201973] [KO:K22761]
(MYP23) LRPAP1 [HSA:4043] [KO:K22290]
(MYP24) SLC39A5 [HSA:283375] [KO:K14711]
(MYP25) P4HA2 [HSA:8974] [KO:K00472]
(MYP26) ARR3 [HSA:407] [KO:K13801]
(MYP27) CPSF1 [HSA:29894] [KO:K14401]
(MYP28) LOXL3 [HSA:84695] [KO:K00280]
(MCVD) P3H2 [HSA:55214] [KO:K22459]

治療薬

アトロピン硫酸塩水和物 [DR:D02069]

リンク

ICD-11:

9D00.0

MeSH:

D009216

OMIM:

608908 614167 615420 615431 615946 617238 301010 618827 619781 614292

文献

PMID:23643385 (MYP6)

著者

Tran-Viet KN, Powell C, Barathi VA, Klemm T, Maurer-Stroh S, Limviphuvadh V, Soler V, Ho C, Yanovitch T, Schneider G, Li YJ, Nading E, Metlapally R, Saw SM, Goh L, Rozen S, Young TL

タイトル

Mutations in SCO2 are associated with autosomal-dominant high-grade myopia.

雑誌

Am J Hum Genet 92:820-6 (2013)
DOI:10.1016/j.ajhg.2013.04.005

文献

PMID:21695231 (MYP21)

著者

Shi Y, Li Y, Zhang D, Zhang H, Li Y, Lu F, Liu X, He F, Gong B, Cai L, Li R, Liao S, Ma S, Lin H, Cheng J, Zheng H, Shan Y, Chen B, Hu J, Jin X, Zhao P, Chen Y, Zhang Y, Lin Y, Li X, Fan Y, Yang H, Wang J, Yang Z

タイトル

Exome sequencing identifies ZNF644 mutations in high myopia.

雑誌

PLoS Genet 7:e1002084 (2011)
DOI:10.1371/journal.pgen.1002084

文献

PMID:23579484 (MYP22)

著者

Zhao F, Wu J, Xue A, Su Y, Wang X, Lu X, Zhou Z, Qu J, Zhou X

タイトル

Exome sequencing reveals CCDC111 mutation associated with high myopia.

雑誌

Hum Genet 132:913-21 (2013)
DOI:10.1007/s00439-013-1303-6

文献

PMID:23830514 (MYP23)

著者

Aldahmesh MA, Khan AO, Alkuraya H, Adly N, Anazi S, Al-Saleh AA, Mohamed JY, Hijazi H, Prabakaran S, Tacke M, Al-Khrashi A, Hashem M, Reinheckel T, Assiri A, Alkuraya FS

タイトル

Mutations in LRPAP1 are associated with severe myopia in humans.

雑誌

Am J Hum Genet 93:313-20 (2013)
DOI:10.1016/j.ajhg.2013.06.002

文献

PMID:24891338 (MYP24)

著者

Guo H, Jin X, Zhu T, Wang T, Tong P, Tian L, Peng Y, Sun L, Wan A, Chen J, Liu Y, Li Y, Tian Q, Xia L, Zhang L, Pan Y, Lu L, Liu Q, Shen L, Li Y, Xiong W, Li J, Tang B, Feng Y, Zhang X, Zhang Z, Pan Q, Hu Z, Xia K

タイトル

SLC39A5 mutations interfering with the BMP/TGF-beta pathway in non-syndromic high myopia.

雑誌

J Med Genet 51:518-25 (2014)
DOI:10.1136/jmedgenet-2014-102351

文献

PMID:25741866 (MYP25)

著者

Guo H, Tong P, Liu Y, Xia L, Wang T, Tian Q, Li Y, Hu Y, Zheng Y, Jin X, Li Y, Xiong W, Tang B, Feng Y, Li J, Pan Q, Hu Z, Xia K

タイトル

Mutations of P4HA2 encoding prolyl 4-hydroxylase 2 are associated with nonsyndromic high myopia.

雑誌

Genet Med 17:300-6 (2015)
DOI:10.1038/gim.2015.28

文献

PMID:27829781 (MYP26)

著者

Xiao X, Li S, Jia X, Guo X, Zhang Q

タイトル

X-linked heterozygous mutations in ARR3 cause female-limited early onset high myopia.

雑誌

Mol Vis 22:1257-1266 (2016)

文献

PMID:30689892 (MYP27)

著者

Ouyang J, Sun W, Xiao X, Li S, Jia X, Zhou L, Wang P, Zhang Q

タイトル

CPSF1 mutations are associated with early-onset high myopia and involved in retinal ganglion cell axon projection.

雑誌

Hum Mol Genet 28:1959-1970 (2019)
DOI:10.1093/hmg/ddz029

文献

PMID:26957899 (MYP28)

著者

Li J, Gao B, Xiao X, Li S, Jia X, Sun W, Guo X, Zhang Q

タイトル

Exome sequencing identified null mutations in LOXL3 associated with early-onset high myopia.

雑誌

Mol Vis 22:161-7 (2016)

文献

PMID:24172257 (MCVD)

著者

Guo H, Tong P, Peng Y, Wang T, Liu Y, Chen J, Li Y, Tian Q, Hu Y, Zheng Y, Xiao L, Xiong W, Pan Q, Hu Z, Xia K

タイトル

Homozygous loss-of-function mutation of the LEPREL1 gene causes severe non-syndromic high myopia with early-onset cataract.

雑誌

Clin Genet 86:575-9 (2014)
DOI:10.1111/cge.12309

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