KEGG   DISEASE: Cataract
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
Related
pathway
hsa04141  Protein processing in endoplasmic reticulum
hsa04015  Rap1 signaling pathway
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]
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
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
PMID:9497259 (GJA8)
  Authors
Shiels A, Mackay D, Ionides A, Berry V, Moore A, Bhattacharya S
  Title
A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant "zonular pulverulent" cataract, on chromosome 1q.
  Journal
Am J Hum Genet 62:526-32 (1998)
DOI:10.1086/301762
Reference
PMID:10521291 (CRYGC)
  Authors
Heon E, Priston M, Schorderet DF, Billingsley GD, Girard PO, Lubsen N, Munier FL
  Title
The gamma-crystallins and human cataracts: a puzzle made clearer.
  Journal
Am J Hum Genet 65:1261-7 (1999)
DOI:10.1086/302619
Reference
PMID:9158139 (CRYBB2)
  Authors
Litt M, Carrero-Valenzuela R, LaMorticella DM, Schultz DW, Mitchell TN, Kramer P, Maumenee IH
  Title
Autosomal dominant cerulean cataract is associated with a chain termination mutation in the human beta-crystallin gene CRYBB2.
  Journal
Hum Mol Genet 6:665-8 (1997)
DOI:10.1093/hmg/6.5.665
Reference
PMID:9927684 (CRYGD)
  Authors
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
  Title
Progressive juvenile-onset punctate cataracts caused by mutation of the gammaD-crystallin gene.
  Journal
Proc Natl Acad Sci U S A 96:1008-12 (1999)
DOI:10.1073/pnas.96.3.1008
Reference
PMID:12089525 (HSF4)
  Authors
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
  Title
Mutant DNA-binding domain of HSF4 is associated with autosomal dominant lamellar and Marner cataract.
  Journal
Nat Genet 31:276-8 (2002)
DOI:10.1038/ng921
Reference
PMID:19005574 (EPHA2)
  Authors
Shiels A, Bennett TM, Knopf HL, Maraini G, Li A, Jiao X, Hejtmancik JF
  Title
The EPHA2 gene is associated with cataracts linked to chromosome 1p.
  Journal
Mol Vis 14:2042-55 (2008)
Reference
PMID:9467006 (CRYAA)
  Authors
Litt M, Kramer P, LaMorticella DM, Murphey W, Lovrien EW, Weleber RG
  Title
Autosomal dominant congenital cataract associated with a missense mutation in the human alpha crystallin gene CRYAA.
  Journal
Hum Mol Genet 7:471-4 (1998)
DOI:10.1093/hmg/7.3.471
Reference
PMID:9788845 (CRYBA1)
  Authors
Kannabiran C, Rogan PK, Olmos L, Basti S, Rao GN, Kaiser-Kupfer M, Hejtmancik JF
  Title
Autosomal dominant zonular cataract with sutural opacities is associated with a splice mutation in the betaA3/A1-crystallin gene.
  Journal
Mol Vis 4:21 (1998)
Reference
PMID:9620774 (PITX3)
  Authors
Semina EV, Ferrell RE, Mintz-Hittner HA, Bitoun P, Alward WL, Reiter RS, Funkhauser C, Daack-Hirsch S, Murray JC
  Title
A novel homeobox gene PITX3 is mutated in families with autosomal-dominant cataracts and ASMD.
  Journal
Nat Genet 19:167-70 (1998)
DOI:10.1038/527
Reference
PMID:10729115 (BFSP2)
  Authors
Conley YP, Erturk D, Keverline A, Mah TS, Keravala A, Barnes LR, Bruchis A, Hess JF, FitzGerald PG, Weeks DE, Ferrell RE, Gorin MB
  Title
A juvenile-onset, progressive cataract locus on chromosome 3q21-q22 is associated with a missense mutation in the beaded filament structural protein-2.
  Journal
Am J Hum Genet 66:1426-31 (2000)
DOI:10.1086/302871
Reference
PMID:11739194 (GCNT2)
  Authors
Yu LC, Twu YC, Chang CY, Lin M
  Title
Molecular basis of the adult i phenotype and the gene responsible for the expression of the human blood group I antigen.
  Journal
Blood 98:3840-5 (2001)
DOI:10.1182/blood.v98.13.3840
Reference
PMID:10205266 (GJA3)
  Authors
Mackay D, Ionides A, Kibar Z, Rouleau G, Berry V, Moore A, Shiels A, Bhattacharya S
  Title
Connexin46 mutations in autosomal dominant congenital cataract.
  Journal
Am J Hum Genet 64:1357-64 (1999)
DOI:10.1086/302383
Reference
PMID:10802646 (MIP)
  Authors
Berry V, Francis P, Kaushal S, Moore A, Bhattacharya S
  Title
Missense mutations in MIP underlie autosomal dominant 'polymorphic' and lamellar cataracts linked to 12q.
  Journal
Nat Genet 25:15-7 (2000)
DOI:10.1038/75538
Reference
PMID:11577372 (CRYAB)
  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
Reference
PMID:12360425 (CRYBB1)
  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
Reference
PMID:21636066 (FYCO1)
  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
PMID:11917274 (LIM2)
  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
Reference
PMID:16141006 (CRYGS)
  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
Reference
PMID:11772997 (MAF)
  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
Reference
PMID:15914629 (CRYBB3)
  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
Reference
PMID:16960806 (CRYBA4)
  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
Reference
PMID:19126778 (VIM)
  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
Reference
PMID:17701905 (CHMP4B)
  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
Reference
PMID:17225135 (BFSP1)
  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
PMID:27218149 (FOXE3)
  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
Reference
PMID:21436445 (TDRD7)
  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
PMID:22415731 (AGK)
  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
PMID:23288985 (CRYGB)
  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)
Reference
PMID:19414485 (NHS)
  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
Reference
PMID:23531866 (WFS1)
  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
PMID:23508780 (CRYBA2)
  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
Reference
PMID:24549050 (UNC45B)
  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
PMID:16440058 (LSS)
  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
PMID:25804400 (SIPA1L3)
  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
PMID:26788539 (LEMD2)
  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
PMID:21778275 (SLC16A12)
  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
PMID:30290152 (DNMBP)
  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
Reference
PMID:30585370 (PANK4)
  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
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