KEGG DISEASE: 白内障

DISEASE: 白内障

エントリ

H01202

名称

白内障

概要

Cataracts can be defined as any opacity of the crystalline lens, often associated with breakdown of the lens microarchitecture, possibly including vacuole formation and disarray of lens cells, which can cause large fluctuations in density resulting in light scattering. In addition, light scattering and opacity will occur if there is a significant amount of high molecular weight protein aggregates. Cataracts can be classified by the age at onset: a congenital or infantile cataract presents within the first year of life; a juvenile cataract presents within the first decade of life; a presenile cataract presents before the age of about 45 years, and senile or age-related cataract after that. Congenital cataracts are a major cause of induced blindness in children, and inherited cataracts are the major cause of congenital cataracts. Inherited congenital cataracts have been associated with mutations in specific genes, including those of crystallins, gap junction proteins, membrane transport and channel proteins, the cytoskeleton, and growth and transcription factors. Inherited congenital cataracts may be inherited as autosomal dominant (most frequent), autosomal recessive, or X-linked traits.

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
  前眼部の疾患
   水晶体の疾患
    9B10  白内障
     H01202  白内障

パスウェイ

hsa04141

Protein processing in endoplasmic reticulum

hsa04015

Rap1 signaling pathway

病因遺伝子

(CTRCT1) GJA8 [HSA:2703] [KO:K07617]
(CTRCT2) CRYGC [HSA:1420] [KO:K23483]
(CTRCT3) CRYBB2 [HSA:1415] [KO:K23482]
(CTRCT4) CRYGD [HSA:1421] [KO:K23483]
(CTRCT5) HSF4 [HSA:3299] [KO:K09417]
(CTRCT6) EPHA2 [HSA:1969] [KO:K05103]
(CTRCT9) CRYAA [HSA:1409] [KO:K09541]
(CTRCT10) CRYBA1 [HSA:1411] [KO:K23482]
(CTRCT11) PITX3 [HSA:5309] [KO:K09357]
(CTRCT12) BFSP2 [HSA:8419] [KO:K10379]
(CTRCT13) GCNT2 [HSA:2651] [KO:K00742]
(CTRCT14) GJA3 [HSA:2700] [KO:K07612]
(CTRCT15) MIP [HSA:4284] [KO:K09863]
(CTRCT16) CRYAB [HSA:1410] [KO:K09542]
(CTRCT17) CRYBB1 [HSA:1414] [KO:K23482]
(CTRCT18) FYCO1 [HSA:79443] [KO:K21954]
(CTRCT19) LIM2 [HSA:3982] [KO:K24190]
(CTRCT20) CRYGS [HSA:1427] [KO:K23483]
(CTRCT21) MAF [HSA:4094] [KO:K09035]
(CTRCT22) CRYBB3 [HSA:1417] [KO:K23482]
(CTRCT23) CRYBA4 [HSA:1413] [KO:K23482]
(CTRCT30) VIM [HSA:7431] [KO:K07606]
(CTRCT31) CHMP4B [HSA:128866] [KO:K12194]
(CTRCT33) BFSP1 [HSA:631] [KO:K10378]
(CTRCT34) FOXE3 [HSA:2301] [KO:K09398]
(CTRCT36) TDRD7 [HSA:23424] [KO:K18405]
(CTRCT38) AGK [HSA:55750] [KO:K09881]
(CTRCT39) CRYGB [HSA:1419] [KO:K23483]
(CTRCT40) NHS [HSA:4810] [KO:K24144]
(CTRCT41) WFS1 [HSA:7466] [KO:K14020]
(CTRCT42) CRYBA2 [HSA:1412] [KO:K23482]
(CTRCT43) UNC45B [HSA:146862] [KO:K21991]
(CTRCT44) LSS [HSA:4047] [KO:K01852]
(CTRCT45) SIPA1L3 [HSA:23094] [KO:K17703]
(CTRCT46) LEMD2 [HSA:221496] [KO:K24080]
(CTRCT47) SLC16A12 [HSA:387700] [KO:K11810]
(CTRCT48) DNMBP [HSA:23268] [KO:K20705]
(CTRCT49) PANK4 [HSA:55229] [KO:K24265]
(CTRCT50) TRPM3 [HSA:80036] [KO:K04978]

治療薬

グルタチオン [DR:D00014]
ピレノキシン [DR:D01100]
チオプロニン [DR:D01430]

リンク

ICD-11:

9B10

ICD-10:

H26 Q12.0

MeSH:

D002386

文献

PMID:17296892

著者

Shiels A, Hejtmancik JF

タイトル

Genetic origins of cataract.

雑誌

Arch Ophthalmol 125:165-73 (2007)
DOI:10.1001/archopht.125.2.165

文献

PMID:18035564

著者

Hejtmancik JF

タイトル

Congenital cataracts and their molecular genetics.

雑誌

Semin Cell Dev Biol 19:134-49 (2008)
DOI:10.1016/j.semcdb.2007.10.003

文献

PMID:21779674

著者

Santana A, Waiswo M

タイトル

The genetic and molecular basis of congenital cataract.

雑誌

Arq Bras Oftalmol 74:136-42 (2011)
DOI:10.1590/S0004-27492011000200016

文献

PMID:20624502

著者

Huang B, He W

タイトル

Molecular characteristics of inherited congenital cataracts.

雑誌

Eur J Med Genet 53:347-57 (2010)
DOI:10.1016/j.ejmg.2010.07.001

文献

PMID:9497259 (CTRCT1)

著者

Shiels A, Mackay D, Ionides A, Berry V, Moore A, Bhattacharya S

タイトル

A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant "zonular pulverulent" cataract, on chromosome 1q.

雑誌

Am J Hum Genet 62:526-32 (1998)
DOI:10.1086/301762

文献

PMID:10521291 (CTRCT2)

著者

Heon E, Priston M, Schorderet DF, Billingsley GD, Girard PO, Lubsen N, Munier FL

タイトル

The gamma-crystallins and human cataracts: a puzzle made clearer.

雑誌

Am J Hum Genet 65:1261-7 (1999)
DOI:10.1086/302619

文献

PMID:9158139 (CTRCT3)

著者

Litt M, Carrero-Valenzuela R, LaMorticella DM, Schultz DW, Mitchell TN, Kramer P, Maumenee IH

タイトル

Autosomal dominant cerulean cataract is associated with a chain termination mutation in the human beta-crystallin gene CRYBB2.

雑誌

Hum Mol Genet 6:665-8 (1997)
DOI:10.1093/hmg/6.5.665

文献

PMID:9927684 (CTRCT4)

著者

Stephan DA, Gillanders E, Vanderveen D, Freas-Lutz D, Wistow G, Baxevanis AD, Robbins CM, VanAuken A, Quesenberry MI, Bailey-Wilson J, Juo SH, Trent JM, Smith L, Brownstein MJ

タイトル

Progressive juvenile-onset punctate cataracts caused by mutation of the gammaD-crystallin gene.

雑誌

Proc Natl Acad Sci U S A 96:1008-12 (1999)
DOI:10.1073/pnas.96.3.1008

文献

PMID:12089525 (CTRCT5)

著者

Bu L, Jin Y, Shi Y, Chu R, Ban A, Eiberg H, Andres L, Jiang H, Zheng G, Qian M, Cui B, Xia Y, Liu J, Hu L, Zhao G, Hayden MR, Kong X

タイトル

Mutant DNA-binding domain of HSF4 is associated with autosomal dominant lamellar and Marner cataract.

雑誌

Nat Genet 31:276-8 (2002)
DOI:10.1038/ng921

文献

PMID:19005574 (CTRCT6)

著者

Shiels A, Bennett TM, Knopf HL, Maraini G, Li A, Jiao X, Hejtmancik JF

タイトル

The EPHA2 gene is associated with cataracts linked to chromosome 1p.

雑誌

Mol Vis 14:2042-55 (2008)

文献

PMID:9467006 (CTRCT9)

著者

Litt M, Kramer P, LaMorticella DM, Murphey W, Lovrien EW, Weleber RG

タイトル

Autosomal dominant congenital cataract associated with a missense mutation in the human alpha crystallin gene CRYAA.

雑誌

Hum Mol Genet 7:471-4 (1998)
DOI:10.1093/hmg/7.3.471

文献

PMID:9788845 (CTRCT10)

著者

Kannabiran C, Rogan PK, Olmos L, Basti S, Rao GN, Kaiser-Kupfer M, Hejtmancik JF

タイトル

Autosomal dominant zonular cataract with sutural opacities is associated with a splice mutation in the betaA3/A1-crystallin gene.

雑誌

Mol Vis 4:21 (1998)

文献

PMID:9620774 (CTRCT11)

著者

Semina EV, Ferrell RE, Mintz-Hittner HA, Bitoun P, Alward WL, Reiter RS, Funkhauser C, Daack-Hirsch S, Murray JC

タイトル

A novel homeobox gene PITX3 is mutated in families with autosomal-dominant cataracts and ASMD.

雑誌

Nat Genet 19:167-70 (1998)
DOI:10.1038/527

文献

PMID:10729115 (CTRCT12)

著者

Conley YP, Erturk D, Keverline A, Mah TS, Keravala A, Barnes LR, Bruchis A, Hess JF, FitzGerald PG, Weeks DE, Ferrell RE, Gorin MB

タイトル

A juvenile-onset, progressive cataract locus on chromosome 3q21-q22 is associated with a missense mutation in the beaded filament structural protein-2.

雑誌

Am J Hum Genet 66:1426-31 (2000)
DOI:10.1086/302871

文献

PMID:11739194 (CTRCT13)

著者

Yu LC, Twu YC, Chang CY, Lin M

タイトル

Molecular basis of the adult i phenotype and the gene responsible for the expression of the human blood group I antigen.

雑誌

Blood 98:3840-5 (2001)
DOI:10.1182/blood.v98.13.3840

文献

PMID:10205266 (CTRCT14)

著者

Mackay D, Ionides A, Kibar Z, Rouleau G, Berry V, Moore A, Shiels A, Bhattacharya S

タイトル

Connexin46 mutations in autosomal dominant congenital cataract.

雑誌

Am J Hum Genet 64:1357-64 (1999)
DOI:10.1086/302383

文献

PMID:10802646 (CTRCT15)

著者

Berry V, Francis P, Kaushal S, Moore A, Bhattacharya S

タイトル

Missense mutations in MIP underlie autosomal dominant 'polymorphic' and lamellar cataracts linked to 12q.

雑誌

Nat Genet 25:15-7 (2000)
DOI:10.1038/75538

文献

PMID:11577372 (CTRCT16)

著者

Berry V, Francis P, Reddy MA, Collyer D, Vithana E, MacKay I, Dawson G, Carey AH, Moore A, Bhattacharya SS, Quinlan RA

タイトル

Alpha-B crystallin gene (CRYAB) mutation causes dominant congenital posterior polar cataract in humans.

雑誌

Am J Hum Genet 69:1141-5 (2001)
DOI:10.1086/324158

文献

PMID:12360425 (CTRCT17)

著者

Mackay DS, Boskovska OB, Knopf HL, Lampi KJ, Shiels A

タイトル

A nonsense mutation in CRYBB1 associated with autosomal dominant cataract linked to human chromosome 22q.

雑誌

Am J Hum Genet 71:1216-21 (2002)
DOI:10.1086/344212

文献

PMID:21636066 (CTRCT18)

著者

Chen J, Ma Z, Jiao X, Fariss R, Kantorow WL, Kantorow M, Pras E, Frydman M, Pras E, Riazuddin S, Riazuddin SA, Hejtmancik JF

タイトル

Mutations in FYCO1 cause autosomal-recessive congenital cataracts.

雑誌

Am J Hum Genet 88:827-838 (2011)
DOI:10.1016/j.ajhg.2011.05.008

文献

PMID:11917274 (CTRCT19)

著者

Pras E, Levy-Nissenbaum E, Bakhan T, Lahat H, Assia E, Geffen-Carmi N, Frydman M, Goldman B, Pras E

タイトル

A missense mutation in the LIM2 gene is associated with autosomal recessive presenile cataract in an inbred Iraqi Jewish family.

雑誌

Am J Hum Genet 70:1363-7 (2002)
DOI:10.1086/340318

文献

PMID:16141006 (CTRCT20)

著者

Sun H, Ma Z, Li Y, Liu B, Li Z, Ding X, Gao Y, Ma W, Tang X, Li X, Shen Y

タイトル

Gamma-S crystallin gene (CRYGS) mutation causes dominant progressive cortical cataract in humans.

雑誌

J Med Genet 42:706-10 (2005)
DOI:10.1136/jmg.2004.028274

文献

PMID:11772997 (CTRCT21)

著者

Jamieson RV, Perveen R, Kerr B, Carette M, Yardley J, Heon E, Wirth MG, van Heyningen V, Donnai D, Munier F, Black GC

タイトル

Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma.

雑誌

Hum Mol Genet 11:33-42 (2002)
DOI:10.1093/hmg/11.1.33

文献

PMID:15914629 (CTRCT22)

著者

Riazuddin SA, Yasmeen A, Yao W, Sergeev YV, Zhang Q, Zulfiqar F, Riaz A, Riazuddin S, Hejtmancik JF

タイトル

Mutations in betaB3-crystallin associated with autosomal recessive cataract in two Pakistani families.

雑誌

Invest Ophthalmol Vis Sci 46:2100-6 (2005)
DOI:10.1167/iovs.04-1481

文献

PMID:16960806 (CTRCT23)

著者

Billingsley G, Santhiya ST, Paterson AD, Ogata K, Wodak S, Hosseini SM, Manisastry SM, Vijayalakshmi P, Gopinath PM, Graw J, Heon E

タイトル

CRYBA4, a novel human cataract gene, is also involved in microphthalmia.

雑誌

Am J Hum Genet 79:702-9 (2006)
DOI:10.1086/507712

文献

PMID:19126778 (CTRCT30)

著者

Muller M, Bhattacharya SS, Moore T, Prescott Q, Wedig T, Herrmann H, Magin TM

タイトル

Dominant cataract formation in association with a vimentin assembly disrupting mutation.

雑誌

Hum Mol Genet 18:1052-7 (2009)
DOI:10.1093/hmg/ddn440

文献

PMID:17701905 (CTRCT31)

著者

Shiels A, Bennett TM, Knopf HL, Yamada K, Yoshiura K, Niikawa N, Shim S, Hanson PI

タイトル

CHMP4B, a novel gene for autosomal dominant cataracts linked to chromosome 20q.

雑誌

Am J Hum Genet 81:596-606 (2007)
DOI:10.1086/519980

文献

PMID:17225135 (CTRCT33)

著者

Ramachandran RD, Perumalsamy V, Hejtmancik JF

タイトル

Autosomal recessive juvenile onset cataract associated with mutation in BFSP1.

雑誌

Hum Genet 121:475-82 (2007)
DOI:10.1007/s00439-006-0319-6

文献

PMID:27218149 (CTRCT34)

著者

Khan SY, Vasanth S, Kabir F, Gottsch JD, Khan AO, Chaerkady R, Lee MC, Leitch CC, Ma Z, Laux J, Villasmil R, Khan SN, Riazuddin S, Akram J, Cole RN, Talbot CC, Pourmand N, Zaghloul NA, Hejtmancik JF, Riazuddin SA

タイトル

FOXE3 contributes to Peters anomaly through transcriptional regulation of an autophagy-associated protein termed DNAJB1.

雑誌

Nat Commun 7:10953 (2016)
DOI:10.1038/ncomms10953

文献

PMID:21436445 (CTRCT36)

著者

Lachke SA, Alkuraya FS, Kneeland SC, Ohn T, Aboukhalil A, Howell GR, Saadi I, Cavallesco R, Yue Y, Tsai AC, Nair KS, Cosma MI, Smith RS, Hodges E, Alfadhli SM, Al-Hajeri A, Shamseldin HE, Behbehani A, Hannon GJ, Bulyk ML, Drack AV, Anderson PJ, John SW, Maas RL

タイトル

Mutations in the RNA granule component TDRD7 cause cataract and glaucoma.

雑誌

Science 331:1571-6 (2011)
DOI:10.1126/science.1195970

文献

PMID:22415731 (CTRCT38)

著者

Aldahmesh MA, Khan AO, Mohamed JY, Alghamdi MH, Alkuraya FS

タイトル

Identification of a truncation mutation of acylglycerol kinase (AGK) gene in a novel autosomal recessive cataract locus.

雑誌

Hum Mutat 33:960-2 (2012)
DOI:10.1002/humu.22071

文献

PMID:23288985 (CTRCT39)

著者

AlFadhli S, Abdelmoaty S, Al-Hajeri A, Behbehani A, Alkuraya F

タイトル

Novel crystallin gamma B mutations in a Kuwaiti family with autosomal dominant congenital cataracts reveal genetic and clinical heterogeneity.

雑誌

Mol Vis 18:2931-6 (2012)

文献

PMID:19414485 (CTRCT40)

著者

Coccia M, Brooks SP, Webb TR, Christodoulou K, Wozniak IO, Murday V, Balicki M, Yee HA, Wangensteen T, Riise R, Saggar AK, Park SM, Kanuga N, Francis PJ, Maher ER, Moore AT, Russell-Eggitt IM, Hardcastle AJ

タイトル

X-linked cataract and Nance-Horan syndrome are allelic disorders.

雑誌

Hum Mol Genet 18:2643-55 (2009)
DOI:10.1093/hmg/ddp206

文献

PMID:23531866 (CTRCT41)

著者

Berry V, Gregory-Evans C, Emmett W, Waseem N, Raby J, Prescott D, Moore AT, Bhattacharya SS

タイトル

Wolfram gene (WFS1) mutation causes autosomal dominant congenital nuclear cataract in humans.

雑誌

Eur J Hum Genet 21:1356-60 (2013)
DOI:10.1038/ejhg.2013.52

文献

PMID:23508780 (CTRCT42)

著者

Reis LM, Tyler RC, Muheisen S, Raggio V, Salviati L, Han DP, Costakos D, Yonath H, Hall S, Power P, Semina EV

タイトル

Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes.

雑誌

Hum Genet 132:761-70 (2013)
DOI:10.1007/s00439-013-1289-0

文献

PMID:24549050 (CTRCT43)

著者

Hansen L, Comyn S, Mang Y, Lind-Thomsen A, Myhre L, Jean F, Eiberg H, Tommerup N, Rosenberg T, Pilgrim D

タイトル

The myosin chaperone UNC45B is involved in lens development and autosomal dominant juvenile cataract.

雑誌

Eur J Hum Genet 22:1290-7 (2014)
DOI:10.1038/ejhg.2014.21

文献

PMID:16440058 (CTRCT44)

著者

Mori M, Li G, Abe I, Nakayama J, Guo Z, Sawashita J, Ugawa T, Nishizono S, Serikawa T, Higuchi K, Shumiya S

タイトル

Lanosterol synthase mutations cause cholesterol deficiency-associated cataracts in the Shumiya cataract rat.

雑誌

J Clin Invest 116:395-404 (2006)
DOI:10.1172/JCI20797

文献

PMID:25804400 (CTRCT45)

著者

Evers C, Paramasivam N, Hinderhofer K, Fischer C, Granzow M, Schmidt-Bacher A, Eils R, Steinbeisser H, Schlesner M, Moog U

タイトル

SIPA1L3 identified by linkage analysis and whole-exome sequencing as a novel gene for autosomal recessive congenital cataract.

雑誌

Eur J Hum Genet 23:1627-33 (2015)
DOI:10.1038/ejhg.2015.46

文献

PMID:26788539 (CTRCT46)

著者

Boone PM, Yuan B, Gu S, Ma Z, Gambin T, Gonzaga-Jauregui C, Jain M, Murdock TJ, White JJ, Jhangiani SN, Walker K, Wang Q, Muzny DM, Gibbs RA, Hejtmancik JF, Lupski JR, Posey JE, Lewis RA

タイトル

Hutterite-type cataract maps to chromosome 6p21.32-p21.31, cosegregates with a homozygous mutation in LEMD2, and is associated with sudden cardiac death.

雑誌

Mol Genet Genomic Med 4:77-94 (2016)
DOI:10.1002/mgg3.181

文献

PMID:21778275 (CTRCT47)

著者

Castorino JJ, Gallagher-Colombo SM, Levin AV, Fitzgerald PG, Polishook J, Kloeckener-Gruissem B, Ostertag E, Philp NJ

タイトル

Juvenile cataract-associated mutation of solute carrier SLC16A12 impairs trafficking of the protein to the plasma membrane.

雑誌

Invest Ophthalmol Vis Sci 52:6774-84 (2011)
DOI:10.1167/iovs.10-6579

文献

PMID:30290152 (CTRCT48)

著者

Ansar M, Chung HL, Taylor RL, Nazir A, Imtiaz S, Sarwar MT, Manousopoulou A, Makrythanasis P, Saeed S, Falconnet E, Guipponi M, Pournaras CJ, Ansari MA, Ranza E, Santoni FA, Ahmed J, Shah I, Gul K, Black GC, Bellen HJ, Antonarakis SE

タイトル

Bi-allelic Loss-of-Function Variants in DNMBP Cause Infantile Cataracts.

雑誌

Am J Hum Genet 103:568-578 (2018)
DOI:10.1016/j.ajhg.2018.09.004

文献

PMID:30585370 (CTRCT49)

著者

Sun M, Chen C, Hou S, Li X, Wang H, Zhou J, Chen X, Liu P, Kijlstra A, Lin S, Ye J

タイトル

A novel mutation of PANK4 causes autosomal dominant congenital posterior cataract.

雑誌

Hum Mutat 40:380-391 (2019)
DOI:10.1002/humu.23696

文献

PMID:25090642 (CTRCT50)

著者

Bennett TM, Mackay DS, Siegfried CJ, Shiels A

タイトル

Mutation of the melastatin-related cation channel, TRPM3, underlies inherited cataract and glaucoma.

雑誌

PLoS One 9:e104000 (2014)
DOI:10.1371/journal.pone.0104000

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