Corneal Dystrophy, Posterior Polymorphous, 2; Ppcd2

Clinical Features

Phenotypes and symptoms related to Corneal Dystrophy, Posterior Polymorphous, 2; Ppcd2

  • Corneal opacity
  • Corneal dystrophy

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.


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Corneal Dystrophy, Posterior Polymorphous, 2; Ppcd2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
COL8A2.

By Institute for Human Genetics University Clinic Freiburg (Germany).

COL8A2
Specificity
100 %
Genes
100 %
Glaucoma Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SLC4A4, ATOH7, OPTN, MFRP, COL4A1, COL8A1, COL8A2, CYP1B1, SH3PXD2B, WDR36, FOXC1, LMX1B, LTBP2, MYOC, OPTC, PAX6, PITX2
Specificity
6 %
Genes
100 %
Corneal Dystrophies Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

TACSTD2, TCF4, ZEB1, TGFBI, VSX1, OVOL2, SLC4A11, COL8A2, CYP4V2, ZNF469, PIKFYVE, AGBL1, LOXHD1, DCN, CHRDL1, UBIAD1, FOXE3, GJA8, GSN, KERA , (...)

View the complete list with 6 more genes
Specificity
4 %
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 %
Corneal Dystrophy.

By Asper Biogene Asper Biogene LLC (Estonia).

SOD1, TACSTD2, TCF4, ZEB1, TGFBI, VSX1, SLC4A11, COL17A1, COL8A2, CYP4V2, ZNF469, PIKFYVE, LOXHD1, DCN, UBIAD1, GSN, KRT12, KRT3, CHST6, PRDM5
Specificity
5 %
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 %
Glaucoma.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases (Spain).

RPGRIP1, OPTN, ASB10, OLFM2, MFRP, VSX2, COL8A2, CYP1B1, SH3PXD2B, WDR36, FOXC1, PRSS56, LOXL1, LTBP2, MYOC, NTF4, OPA1, OPTC, PAX6
Specificity
6 %
Genes
100 %
Glaucoma (Advance).

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases (Spain).

RPS19, SLC4A4, TTR, BEST1, RPGRIP1, CA4, ACVR1, OPTN, ASB10, OLFM2, RRM2B, MFRP, CANT1, VSX2, SBF2, COL18A1, COL8A2, CYP1B1, SH3PXD2B, WDR36 , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
100 %

We have 6 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM MESH Rare Disease Symptoms Checker

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