Cataract 3, Multiple Types; Ctrct3
Description
Mutations in the CRYBB2 gene have been found to cause several types of cataract, which have been described as congenital cerulean, 'blue dot,' Coppock-like, sutural with punctate and cerulean opacities, pulverulent embryonal, pulverulent with cortical opacities, dense posterior star-shaped subcapsular with pulverulent opacities in the cortical and embryonal regions, and dense embryonal.Before it was known that mutations in the CRYBB2 gene cause several types of cataract, the preferred title of this entry was 'Cataract, Congenital, Cerulean Type 2,' with the symbol CCA2.
Clinical Features
Phenotypes and symptoms related to Cataract 3, Multiple Types; Ctrct3
- Cataract
- Visual impairment
- Microphthalmia
- Congenital cataract
- Microcornea
- Subcapsular cataract
- Cerulean cataract
- Sutural cataract
Incidence and onset information
— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)— The onset for some of the known clinical features related to this disease may vary, including congenital onset .
Alternative names
Cataract 3, Multiple Types; Ctrct3 Is also known as cataract 3, multiple types, with or without microcornea, cataract, congenital, cerulean type, 2, cca2.
Researches and researchers
Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.Cataract 3, Multiple Types; Ctrct3 Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
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![]() By CGC Genetics (Portugal).
BFSP1, BFSP2, VIM, WFS1, FYCO1, PXDN, CHMP4B, P3H2, AGK, SLC16A12, CRYAA, CRYAB, CRYBA1, CRYBA2, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGB, CRYGC , (...)
View the complete list with 21 more genes
Specificity
3 %
Genes
100 % |
![]() By PreventionGenetics PreventionGenetics (United States).
BFSP1, BFSP2, VIM, FYCO1, PXDN, CHMP4B, P3H2, AGK, SLC16A12, CRYAA, CRYAB, CRYBA1, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGB, CRYGC, CRYGD, CRYGS , (...)
View the complete list with 20 more genes
Specificity
3 %
Genes
100 % |
![]() By PreventionGenetics PreventionGenetics (United States).
CRYBB2
Specificity
100 %
Genes
100 % |
![]() By MGZ Medical Genetics Center (Germany).
BFSP1, BFSP2, SIX6, VIM, WFS1, RAB18, FYCO1, JAM3, TBC1D20, CHMP4B, RAB3GAP1, RAB3GAP2, P3H2, VSX2, COL11A1, COL18A1, COL4A1, COL4A2, SLC16A12, CRYAA , (...)
View the complete list with 44 more genes
Specificity
2 %
Genes
100 % |
![]() By MGZ Medical Genetics Center (Germany).
BFSP1, BFSP2, SALL2, BMP4, BMP7, SHH, SIX3, SIX6, FOXL2, SOX2, TACSTD2, ZEB1, TFAP2A, TGFBI, TGIF1, TREX1, TYR, TYRP1, VAX1, VIM , (...)
View the complete list with 146 more genes
Specificity
1 %
Genes
100 % |
![]() By Centogene AG - the Rare Disease Company (Germany).
BFSP1, BFSP2, VIM, WFS1, UNC45B, FYCO1, CHMP4B, P3H2, VSX2, BCOR, LEMD2, AGK, SLC16A12, SIPA1L3, CRYAA, CRYAB, CRYBA1, CRYBA2, CRYBA4, CRYBB1 , (...)
View the complete list with 25 more genes
Specificity
3 %
Genes
100 % |
![]() By CeGaT GmbH (Germany).
BFSP1, BFSP2, VIM, FYCO1, PXDN, CHMP4B, P3H2, BCOR, AGK, SLC16A12, SIPA1L3, CRYAA, CRYAB, CRYBA1, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGA, CRYGB , (...)
View the complete list with 21 more genes
Specificity
3 %
Genes
100 % |
![]() By Asper Biogene Asper Biogene LLC (Estonia).
BFSP1, BFSP2, SIX6, VIM, UNC45B, FYCO1, PXDN, CHMP4B, P3H2, VSX2, BCOR, AGK, SLC16A12, SIPA1L3, CRYAA, CRYAB, CRYBA1, CRYBA4, CRYBB1, CRYBB2 , (...)
View the complete list with 24 more genes
Specificity
3 %
Genes
100 % |
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Learn moreSources and references
You can check the following sources for additional information.
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