Edict Syndrome

Table of contents:

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

Description

EDICT (endothelial dystrophy-iris hypoplasia-congenital cataract-stromal thinning) syndrome is a very rare eye disorder representing a constellation of autosomal dominantly inherited ocular findings, including early-onset or congenital cataracts, corneal stromal thinning, early-onset keratoconus, corneal endothelial dystrophy, and iris hypoplasia.

Genes related to Edict Syndrome

MIR184

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Clinical Features

Top most frequent phenotypes and symptoms related to Edict Syndrome

Cataract
Myopia
Reduced visual acuity
Corneal opacity
Congenital cataract
Astigmatism
Microcornea
Ectropion
Keratoconus
Hypoplasia of the iris

And another 6 symptoms. If you need more information about this disease we can help you.

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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

Edict Syndrome Is also known as endothelial dystrophy-iris hypoplasia-congenital cataract-stromal thinning syndrome, familial keratoconus with cataract, keratoconus, familial, with early-onset anterior polar cataract, endothelial dystrophy, iris hypoplasia, congenital cataract, and stromal.

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.

Edict Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Ocular anterior segment mesenchymal dysgenesis (NGS panel of 18 genes). By CGC Genetics (Portugal). BMP4, VSX1, PXDN, B3GLCT, COL4A1, CYP1B1, MIR184, SLC38A8, FGFR2, FOXC1, FOXE3, HMX1, JAG1, ASPH, PAX6, PITX2, PITX3, PTCH1 Specificity 6 % Genes 100 %
Ocular anterior segment mesenchymal dysgenesis (NGS panel of 18 genes). By CGC Genetics (Portugal). BMP4, VSX1, PXDN, B3GLCT, COL4A1, CYP1B1, MIR184, SLC38A8, FGFR2, FOXC1, FOXE3, HMX1, JAG1, ASPH, PAX6, PITX2, PITX3, PTCH1 Specificity 6 % 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 %
Keratoconus and related disorders Comprehensive test. By Connective Tissue Gene Tests (United States). VSX1, ZNF469, MIR184, PRDM5 Specificity 25 % Genes 100 %
Keratoconus and related disorders Deletion / Duplication test. By Connective Tissue Gene Tests (United States). VSX1, ZNF469, MIR184, PRDM5 Specificity 25 % Genes 100 %
Keratoconus and related disorders NGS test. By Connective Tissue Gene Tests (United States). VSX1, ZNF469, MIR184, PRDM5 Specificity 25 % 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 %

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Rare Disease Symptoms Checker

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