| H01202 | |
| H number | H01202 |
| Name | Cataract |
| Description | 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. |
| Category | Nervous system disease |
| Network | - |
| Gene | (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] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | 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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JOURNAL Nat Genet 25:15-7 (2000) DOI:10.1038/75538 PMID:11577372 (CTRCT16) AUTHORS Berry V, Francis P, Reddy MA, Collyer D, Vithana E, MacKay I, Dawson G, Carey AH, Moore A, Bhattacharya SS, Quinlan RA TITLE Alpha-B crystallin gene (CRYAB) mutation causes dominant congenital posterior polar cataract in humans. JOURNAL Am J Hum Genet 69:1141-5 (2001) DOI:10.1086/324158 PMID:12360425 (CTRCT17) AUTHORS Mackay DS, Boskovska OB, Knopf HL, Lampi KJ, Shiels A TITLE A nonsense mutation in CRYBB1 associated with autosomal dominant cataract linked to human chromosome 22q. JOURNAL Am J Hum Genet 71:1216-21 (2002) DOI:10.1086/344212 PMID:21636066 (CTRCT18) AUTHORS Chen J, Ma Z, Jiao X, Fariss R, Kantorow WL, Kantorow M, Pras E, Frydman M, Pras E, Riazuddin S, Riazuddin SA, Hejtmancik JF TITLE Mutations in FYCO1 cause autosomal-recessive congenital cataracts. JOURNAL Am J Hum Genet 88:827-838 (2011) DOI:10.1016/j.ajhg.2011.05.008 PMID:11917274 (CTRCT19) AUTHORS Pras E, Levy-Nissenbaum E, Bakhan T, Lahat H, Assia E, Geffen-Carmi N, Frydman M, Goldman B, Pras E TITLE A missense mutation in the LIM2 gene is associated with autosomal recessive presenile cataract in an inbred Iraqi Jewish family. JOURNAL Am J Hum Genet 70:1363-7 (2002) DOI:10.1086/340318 PMID:16141006 (CTRCT20) AUTHORS Sun H, Ma Z, Li Y, Liu B, Li Z, Ding X, Gao Y, Ma W, Tang X, Li X, Shen Y TITLE Gamma-S crystallin gene (CRYGS) mutation causes dominant progressive cortical cataract in humans. JOURNAL J Med Genet 42:706-10 (2005) DOI:10.1136/jmg.2004.028274 PMID:11772997 (CTRCT21) AUTHORS Jamieson RV, Perveen R, Kerr B, Carette M, Yardley J, Heon E, Wirth MG, van Heyningen V, Donnai D, Munier F, Black GC TITLE Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma. JOURNAL Hum Mol Genet 11:33-42 (2002) DOI:10.1093/hmg/11.1.33 PMID:15914629 (CTRCT22) AUTHORS Riazuddin SA, Yasmeen A, Yao W, Sergeev YV, Zhang Q, Zulfiqar F, Riaz A, Riazuddin S, Hejtmancik JF TITLE Mutations in betaB3-crystallin associated with autosomal recessive cataract in two Pakistani families. JOURNAL Invest Ophthalmol Vis Sci 46:2100-6 (2005) DOI:10.1167/iovs.04-1481 PMID:16960806 (CTRCT23) AUTHORS Billingsley G, Santhiya ST, Paterson AD, Ogata K, Wodak S, Hosseini SM, Manisastry SM, Vijayalakshmi P, Gopinath PM, Graw J, Heon E TITLE CRYBA4, a novel human cataract gene, is also involved in microphthalmia. JOURNAL Am J Hum Genet 79:702-9 (2006) DOI:10.1086/507712 PMID:19126778 (CTRCT30) AUTHORS Muller M, Bhattacharya SS, Moore T, Prescott Q, Wedig T, Herrmann H, Magin TM TITLE Dominant cataract formation in association with a vimentin assembly disrupting mutation. JOURNAL Hum Mol Genet 18:1052-7 (2009) DOI:10.1093/hmg/ddn440 PMID:17701905 (CTRCT31) AUTHORS Shiels A, Bennett TM, Knopf HL, Yamada K, Yoshiura K, Niikawa N, Shim S, Hanson PI TITLE CHMP4B, a novel gene for autosomal dominant cataracts linked to chromosome 20q. JOURNAL Am J Hum Genet 81:596-606 (2007) DOI:10.1086/519980 PMID:17225135 (CTRCT33) AUTHORS Ramachandran RD, Perumalsamy V, Hejtmancik JF TITLE Autosomal recessive juvenile onset cataract associated with mutation in BFSP1. JOURNAL Hum Genet 121:475-82 (2007) DOI:10.1007/s00439-006-0319-6 PMID:27218149 (CTRCT34) AUTHORS 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 TITLE FOXE3 contributes to Peters anomaly through transcriptional regulation of an autophagy-associated protein termed DNAJB1. JOURNAL Nat Commun 7:10953 (2016) DOI:10.1038/ncomms10953 PMID:21436445 (CTRCT36) AUTHORS 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 TITLE Mutations in the RNA granule component TDRD7 cause cataract and glaucoma. JOURNAL Science 331:1571-6 (2011) DOI:10.1126/science.1195970 PMID:22415731 (CTRCT38) AUTHORS Aldahmesh MA, Khan AO, Mohamed JY, Alghamdi MH, Alkuraya FS TITLE Identification of a truncation mutation of acylglycerol kinase (AGK) gene in a novel autosomal recessive cataract locus. JOURNAL Hum Mutat 33:960-2 (2012) DOI:10.1002/humu.22071 PMID:23288985 (CTRCT39) AUTHORS AlFadhli S, Abdelmoaty S, Al-Hajeri A, Behbehani A, Alkuraya F TITLE Novel crystallin gamma B mutations in a Kuwaiti family with autosomal dominant congenital cataracts reveal genetic and clinical heterogeneity. JOURNAL Mol Vis 18:2931-6 (2012) PMID:19414485 (CTRCT40) AUTHORS 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 TITLE X-linked cataract and Nance-Horan syndrome are allelic disorders. JOURNAL Hum Mol Genet 18:2643-55 (2009) DOI:10.1093/hmg/ddp206 PMID:23531866 (CTRCT41) AUTHORS Berry V, Gregory-Evans C, Emmett W, Waseem N, Raby J, Prescott D, Moore AT, Bhattacharya SS TITLE Wolfram gene (WFS1) mutation causes autosomal dominant congenital nuclear cataract in humans. JOURNAL Eur J Hum Genet 21:1356-60 (2013) DOI:10.1038/ejhg.2013.52 PMID:23508780 (CTRCT42) AUTHORS Reis LM, Tyler RC, Muheisen S, Raggio V, Salviati L, Han DP, Costakos D, Yonath H, Hall S, Power P, Semina EV TITLE Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes. JOURNAL Hum Genet 132:761-70 (2013) DOI:10.1007/s00439-013-1289-0 PMID:24549050 (CTRCT43) AUTHORS Hansen L, Comyn S, Mang Y, Lind-Thomsen A, Myhre L, Jean F, Eiberg H, Tommerup N, Rosenberg T, Pilgrim D TITLE The myosin chaperone UNC45B is involved in lens development and autosomal dominant juvenile cataract. JOURNAL Eur J Hum Genet 22:1290-7 (2014) DOI:10.1038/ejhg.2014.21 PMID:16440058 (CTRCT44) AUTHORS Mori M, Li G, Abe I, Nakayama J, Guo Z, Sawashita J, Ugawa T, Nishizono S, Serikawa T, Higuchi K, Shumiya S TITLE Lanosterol synthase mutations cause cholesterol deficiency-associated cataracts in the Shumiya cataract rat. JOURNAL J Clin Invest 116:395-404 (2006) DOI:10.1172/JCI20797 PMID:25804400 (CTRCT45) AUTHORS Evers C, Paramasivam N, Hinderhofer K, Fischer C, Granzow M, Schmidt-Bacher A, Eils R, Steinbeisser H, Schlesner M, Moog U TITLE SIPA1L3 identified by linkage analysis and whole-exome sequencing as a novel gene for autosomal recessive congenital cataract. JOURNAL Eur J Hum Genet 23:1627-33 (2015) DOI:10.1038/ejhg.2015.46 PMID:26788539 (CTRCT46) AUTHORS 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 TITLE Hutterite-type cataract maps to chromosome 6p21.32-p21.31, cosegregates with a homozygous mutation in LEMD2, and is associated with sudden cardiac death. JOURNAL Mol Genet Genomic Med 4:77-94 (2016) DOI:10.1002/mgg3.181 PMID:21778275 (CTRCT47) AUTHORS Castorino JJ, Gallagher-Colombo SM, Levin AV, Fitzgerald PG, Polishook J, Kloeckener-Gruissem B, Ostertag E, Philp NJ TITLE Juvenile cataract-associated mutation of solute carrier SLC16A12 impairs trafficking of the protein to the plasma membrane. JOURNAL Invest Ophthalmol Vis Sci 52:6774-84 (2011) DOI:10.1167/iovs.10-6579 PMID:30290152 (CTRCT48) AUTHORS 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 TITLE Bi-allelic Loss-of-Function Variants in DNMBP Cause Infantile Cataracts. JOURNAL Am J Hum Genet 103:568-578 (2018) DOI:10.1016/j.ajhg.2018.09.004 PMID:30585370 (CTRCT49) AUTHORS Sun M, Chen C, Hou S, Li X, Wang H, Zhou J, Chen X, Liu P, Kijlstra A, Lin S, Ye J TITLE A novel mutation of PANK4 causes autosomal dominant congenital posterior cataract. JOURNAL Hum Mutat 40:380-391 (2019) DOI:10.1002/humu.23696 PMID:25090642 (CTRCT50) AUTHORS Bennett TM, Mackay DS, Siegfried CJ, Shiels A TITLE Mutation of the melastatin-related cation channel, TRPM3, underlies inherited cataract and glaucoma. JOURNAL PLoS One 9:e104000 (2014) DOI:10.1371/journal.pone.0104000 |