| H01202 | |
| H番号 | 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 |
| ネットワーク | - |
| 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] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 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] |
| コメント | - |
| リンク | ICD-11: 9B10 ICD-10: H26 Q12.0 MeSH: D002386 OMIM: 116200 604307 601547 115700 116800 116600 604219 600881 610623 611597 116700 601885 615274 613763 611544 610019 615277 116100 610202 609741 610425 116300 605387 611391 612968 613887 614691 615188 302200 116400 115900 616279 616509 616851 212500 612018 618415 619593 620253 |
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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 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) 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 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) PMID:9620774 (CTRCT11) 著者 Semina EV, Ferrell RE, Mintz-Hittner HA, Bitoun P, Alward WL, Reiter RS, Funkhauser 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DOI:10.1086/302383 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 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 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 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 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 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 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 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 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 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 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 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 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 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, 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and Nance-Horan syndrome are allelic disorders. 雑誌 Hum Mol Genet 18:2643-55 (2009) DOI:10.1093/hmg/ddp206 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 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 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 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 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 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 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 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 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 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 |