Myopia, High, With Cataract And Vitreoretinal Degeneration; Mcvd

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Genes related to Myopia, High, With Cataract And Vitreoretinal Degeneration; Mcvd

P3H2

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Clinical Features

Top most frequent phenotypes and symptoms related to Myopia, High, With Cataract And Vitreoretinal Degeneration; Mcvd

Cataract
Visual impairment
Myopia
Blindness
Coloboma
Retinal detachment
High myopia
Vitreoretinopathy
Lens subluxation
Epiretinal membrane

And another 4 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

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.

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.

Myopia, High, With Cataract And Vitreoretinal Degeneration; Mcvd Recommended genes panels

Panel Name, Specifity and genes Tested/covered
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 Panel complete gene list BFSP1, BFSP2, VIM, WFS1, FYCO1, PXDN, CHMP4B, P3H2, AGK, SLC16A12, CRYAA, CRYAB, CRYBA1, CRYBA2, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGB, CRYGC, CRYGD, CRYGS, SIL1, CTDP1, TDRD7, EPHA2, EYA1, FOXE3, FTL, GALK1, GALT, GCNT2, GJA3, GJA8, HSF4, LIM2, MAF, MIP, NHS, PAX6, PITX3 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 Panel complete gene list BFSP1, BFSP2, VIM, FYCO1, PXDN, CHMP4B, P3H2, AGK, SLC16A12, CRYAA, CRYAB, CRYBA1, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGB, CRYGC, CRYGD, CRYGS, FAM126A, SIL1, CTDP1, TDRD7, MIR184, EPHA2, EYA1, FOXE3, GALK1, GCNT2, GJA3, GJA8, HSF4, LIM2, MAF, MIP, NHS, PAX6, PITX3, SLC33A1 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 Panel complete gene list BFSP1, BFSP2, SIX6, VIM, WFS1, RAB18, FYCO1, JAM3, TBC1D20, CHMP4B, RAB3GAP1, RAB3GAP2, P3H2, VSX2, COL11A1, COL18A1, COL4A1, COL4A2, SLC16A12, CRYAA, CRYAB, CRYBA1, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGB, CRYGC, CRYGD, CRYGS, FAM126A, SIL1, CTDP1, CYP27A1, EPG5, TDRD7, MIR184, TMEM114, EPHA2, ERCC1, ERCC2, ERCC5, ERCC6, EYA1, FOXC1, FOXE3, FTL, GALK1, GCNT2, GJA3, GJA8, GLA, ABCB6, HSF4, LIM2, LTBP2, MAF, MIP, MYH9, NHS, OPA3, PAX6, PITX2, SLC33A1 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 Panel complete gene list BFSP1, BFSP2, SALL2, BMP4, BMP7, SHH, SIX3, SIX6, FOXL2, SOX2, TACSTD2, ZEB1, TFAP2A, TGFBI, TGIF1, TREX1, TYR, TYRP1, VAX1, VIM, VSX1, WFS1, ZIC2, ACTB, ADAMTS10, ATOH7, RAB18, ACTG1, FYCO1, PXDN, CBS, JAM3, OVOL2, TBC1D20, CHMP4B, SLC4A11, SLC45A2, MFN2, RAB3GAP1, ADAMTS17, RAB3GAP2, MFRP, RAX, GRIP1, FRAS1, P3H2, KIF21A, ADAMTSL4, VSX2, GPR143, B3GLCT, SMOC1, NDUFB11, SLC24A5, CHD7, TUBB3, BCOR, ADAMTS2, VPS13B, COL11A1, COL11A2, COL17A1, COL18A1, COL3A1, COL4A1, COL4A2, COL5A1, COL5A2, COL8A2, COL9A1, COL9A2, COL9A3, SLC16A12, CYP4V2, ZNF469, LRMDA, PIKFYVE, SIPA1L3, CRYAA, CRYAB, CRYBA1, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGB, CRYGC, CRYGD, CRYGS, TMEM98, FAM126A, SIL1, VCAN, CTDP1, TMEM126A, FREM2, MTPAP, CYP1B1, CYP27A1, AGBL1, C12orf65, DCN, EPG5, C12orf57, TENM3, STRA6, UBIAD1, TUBB2B, TDRD7, MIR184, SLC38A8, TMEM114, EPHA2, ERCC1, ERCC2, ERCC5, ERCC6, EYA1, FBN1, FOXC1, FOXE3, PRSS56, FTL, FZD4, ALDH1A3, GALK1, GCNT2, GDF3, GDF6, GJA1, GJA3, GJA8, GLA, GSN, ABCB6, HCCS, HESX1, HMX1, HSF4, KRT3, LIM2, LRP2, LRP5, LTBP2, MAB21L2, MAF, PHOX2A, CHST6, MIP, ASPH, MYH9, MYOC, NDP, NHS, FRMD7, OCA2, OCRL, OPA1, OPA3, OTX2, PAX2, PAX6, PITX2, PRDM5, SLC33A1, RARB Specificity 1 % Genes 100 %
Stickler Syndrome / High Myopia. By MGZ Medical Genetics Center (Germany). P3H2, COL11A1, COL18A1, COL5A1, COL5A2, COL9A1, COL9A2, COL9A3, VCAN, FBN1 Specificity 10 % 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 Panel complete gene list BFSP1, BFSP2, VIM, WFS1, UNC45B, FYCO1, CHMP4B, P3H2, VSX2, BCOR, LEMD2, AGK, SLC16A12, SIPA1L3, CRYAA, CRYAB, CRYBA1, CRYBA2, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGB, CRYGC, CRYGD, CRYGS, CTDP1, TDRD7, EPHA2, EYA1, FOXC1, FOXE3, FTL, GALK1, GCNT2, GJA3, GJA8, HSF4, LIM2, LSS, MAF, MIP, NHS, PAX6, PITX3 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 Panel complete gene list BFSP1, BFSP2, VIM, FYCO1, PXDN, CHMP4B, P3H2, BCOR, AGK, SLC16A12, SIPA1L3, CRYAA, CRYAB, CRYBA1, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGA, CRYGB, CRYGC, CRYGD, CRYGS, SIL1, TDRD7, EPHA2, EYA1, FOXE3, FTL, GALK1, GCNT2, GJA3, GJA8, HSF4, LIM2, LSS, MAF, MIP, NHS, PAX6, PITX3 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 Panel complete gene list BFSP1, BFSP2, SIX6, VIM, UNC45B, FYCO1, PXDN, CHMP4B, P3H2, VSX2, BCOR, AGK, SLC16A12, SIPA1L3, CRYAA, CRYAB, CRYBA1, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGB, CRYGC, CRYGD, CRYGS, SIL1, CTDP1, TDRD7, EPHA2, EYA1, FTL, GALK1, GCNT2, GJA1, GJA3, GJA8, HSF4, LIM2, LSS, MAF, MIP, NHS, PAX6, PITX3 Specificity 3 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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