Cataract 24

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Retrieved

2019-09-22

Source

Omim

Trials

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Genes

CRYBB3, CRYAA, CRYBA2, CRYGB, IL6, CRP, HSF4, COL4A3, IL10, ACE, COPD, KLK3, TNF, HMGB1, CXCL8, ALB, PROS1, PSAT1, TIMP1, MBL2, MMP9, SLC2A10, CXCL10, NPEPPS, PLAG1, IRF5, IL1B, IL1RN, MIR184, TLR4

CRYBB3, CRYAA, CRYBA2, CRYGB, IL6, CRP, HSF4, COL4A3, IL10, ACE, COPD, KLK3, TNF, HMGB1, CXCL8, ALB, PROS1, PSAT1, TIMP1, MBL2, MMP9, SLC2A10, CXCL10, NPEPPS, PLAG1, IRF5, IL1B, IL1RN, MIR184, TLR4, AR, CHI3L1, SFTPD, PTX3, BTBD8, CCL18, COL4A5, VDR, TNFRSF1B, TP53, ARTN, VEGFA, TIMELESS, RNGTT, IKBKG, CSRP3, VIP, ARHGEF5, A2M, FGF21, SMC3, NDRG1, AK6, SFTPA2, SFTPA1, MIR384, MIR222, MIR146A, CRIP3, EPHA6, CTAG1A, DCD, NLRP3, BIRC8, MLIP, ACKR3, TMCO3, TLR9, PCA3, HAVCR1, SLC17A5, SPATS2L, GABARAPL1, HEY2, SLC9A6, TLR2, SERPINE1, TGM2, TAT, FCGR2A, FAAH, ERBB3, EGFR, DPP4, DDX3X, CYP1A1, CTAG1B, CCR5, CEBPD, CDKN2A, CD28, CAMP, BGLAP, BDNF, BCL2, BCHE, AVP, ARG1, APOB, ANXA11, FCGR3A, FCGR3B, FCN2, MEFV, SPP1, SMPD1, SLC7A4, SFTPB, SDC4, CCL22, PTPRC, ADM, MUC1, KRAS, FGF1, INSRR, IL13, IL1A, IGHG1, IFNG, TNC, HOXB7, GRN, FGF2, H3P10

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Description

Anterior polar cataracts are small opacities on the anterior surface of the lens. They usually do not interfere with vision (Moross et al., 1984).

The preferred title/symbol of this entry was formerly 'Cataract, Anterior Polar, 2; CTAA2.'

Mapping

By genetic linkage analysis with microsatellite markers in a 4-generation pedigree, Berry et al. (1996) identified a locus for an autosomal dominant anterior polar cataract on 17p. A maximum lod score of 4.01 at theta = 0.05 was obtained for marker D17S849 and a maximum lod score of 4.17 at theta = 0.05 for D17S796. Multipoint analysis gave a maximum lod score of 5.2.

History

Hejtmancik (1998) presented a table of 9 loci, including this one, that had been implicated in nonsyndromal cataract and mapped to specific chromosomal sites.