KEGG   DISEASE: CataractHelp
Entry
H01202                      Disease                                

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
Brite
Human diseases [BR:br08402]
 Nervous system diseases
  Eye disease
   H01202  Cataract
Human diseases in ICD-11 classification [BR:br08403]
 09 Diseases of the visual system
  Disorders of the eyeball anterior segment
   Disorders of lens
    9B10  Cataract
     H01202  Cataract
BRITE hierarchy
Pathway
hsa04141  Protein processing in endoplasmic reticulum
Gene
(CTRCT1) GJA8 [HSA:2703] [KO:K07617]
(CTRCT2) CRYGC [HSA:1420]
(CTRCT3) CRYBB2 [HSA:1415]
(CTRCT4) CRYGD [HSA:1421]
(CTRCT5) HSF4 [HSA:3299] [KO:K09417]
(CTRCT6) EPHA2 [HSA:1969] [KO:K05103]
(CTRCT9) CRYAA [HSA:1409] [KO:K09541]
(CTRCT10) CRYBA1 [HSA:1411]
(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]
(CTRCT18) FYCO1 [HSA:79443] [KO:K21954]
(CTRCT19) LIM2 [HSA:3982]
(CTRCT20) CRYGS [HSA:1427]
(CTRCT21) MAF [HSA:4094] [KO:K09035]
(CTRCT22) CRYBB3 [HSA:1417]
(CTRCT23) CRYBA4 [HSA:1413]
(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]
(CTRCT40) NHS [HSA:4810]
(CTRCT41) WFS1 [HSA:7466] [KO:K14020]
(CTRCT42) CRYBA2 [HSA:1412]
(CTRCT43) UNC45B [HSA:146862] [KO:K21991]
(CTRCT44) LSS [HSA:4047] [KO:K01852]
(CTRCT45) SIPA1L3 [HSA:23094] [KO:K17703]
(CTRCT46) LEMD2 [HSA:221496]
(CTRCT47) SLC16A12 [HSA:387700] [KO:K11810]
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
Reference
  Authors
Shiels A, Hejtmancik JF
  Title
Genetic origins of cataract.
  Journal
Arch Ophthalmol 125:165-73 (2007)
DOI:10.1001/archopht.125.2.165
Reference
  Authors
Hejtmancik JF
  Title
Congenital cataracts and their molecular genetics.
  Journal
Semin Cell Dev Biol 19:134-49 (2008)
DOI:10.1016/j.semcdb.2007.10.003
Reference
  Authors
Santana A, Waiswo M
  Title
The genetic and molecular basis of congenital cataract.
  Journal
Arq Bras Oftalmol 74:136-42 (2011)
DOI:10.1590/S0004-27492011000200016
Reference
  Authors
Huang B, He W
  Title
Molecular characteristics of inherited congenital cataracts.
  Journal
Eur J Med Genet 53:347-57 (2010)
DOI:10.1016/j.ejmg.2010.07.001
Reference
  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
Reference
  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
Reference
  Authors
Luscieti S, Santambrogio P, Langlois d'Estaintot B, Granier T, Cozzi A, Poli M, Gallois B, Finazzi D, Cattaneo A, Levi S, Arosio P
  Title
Mutant ferritin L-chains that cause neurodegeneration act in a dominant-negative manner to reduce ferritin iron incorporation.
  Journal
J Biol Chem 285:11948-57 (2010)
DOI:10.1074/jbc.M109.096404
Reference
  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
Reference
  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
Reference
  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
Reference
  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
Reference
  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
Reference
  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
Reference
  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
Reference
  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
Reference
  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)

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