Cataract 6, Multiple Types; Ctrct6
Description
Mutations in the EPHA2 gene have been found to cause multiple types of cataract, which have been described as posterior polar, congenital total, complete, and age-related cortical.The preferred title/symbol of this entry was formerly 'Cataract, posterior polar, 1; CTPP1,' and 'Cataract, Age-Related Cortical, 2; ARCC2' was formerly a distinct entry.
Clinical Features
Top most frequent phenotypes and symptoms related to Cataract 6, Multiple Types; Ctrct6
- Nystagmus
- Strabismus
- Cataract
- Myopia
- Glaucoma
- Congenital cataract
- Esotropia
- High myopia
- Amblyopia
- Exotropia
And another 6 symptoms. If you need more information about this disease we can help you.
Incidence and onset information
— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)— No data available about the known clinical features onset.
Alternative names
Cataract 6, Multiple Types; Ctrct6 Is also known as cataract, age-related cortical, 2, cataract, posterior polar, 1, ctpp1, arcc2.
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 6, Multiple Types; Ctrct6 Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
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Cataracts (NGS panel for 41 genes).
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 % |
Congenital Cataracts Sequencing Panel with CNV Detection.
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 % |
Cataract.
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 % |
Eye Diseases - panels.
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 % |
Cataract panel.
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 % |
Cataract Panel.
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 % |
Cataract.
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 % |
Eye diseases comprehensive panel.
By Asper Biogene Asper Biogene LLC (Estonia).
RGS9, RHO, GRK1, RLBP1, ROM1, RP1, RP2, RP9, RPE65, RPGR, BFSP2, RS1, CNNM4, SAG, SDCCAG8, BMP4, SEMA4A, SIX6, SLC24A1, SOX2 , (...)
View the complete list with 259 more genes
Specificity
1 %
Genes
100 % |
You can get up to 10 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
OMIM Rare Disease Symptoms CheckerIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like VAN DER WOUDE SYNDROME 1; VWS1 HYPERPARATHYROIDISM 1; HRPT1 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STRUDWICK TYPE; SEMDSTWK HOLT-ORAM SYNDROME; HOS HOLOCARBOXYLASE SYNTHETASE DEFICIENCY HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME; HRDS OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE