- Diseases
- Epithelial recurrent erosion dystrophy
Epithelial recurrent erosion dystrophy
Name: |
Epithelial recurrent erosion dystrophy
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Description: |
Epithelial recurrent erosion dystrophy (ERED) is a rare form of superficial corneal dystrophy (see this term) characterized by recurrent episodes of epithelial erosions from childhood in the absence of associated diseases, with occasional impairment of vision.
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ORPHAcode: |
293381
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Synonyms: |
Dystrophia Helsinglandica
Dystrophia Smolandiensis
ERED
Recurrent hereditary corneal erosions
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XREF(s): | |
Analyte(s): | |
Created: |
13 May 2019 - 01:02
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Changed: |
22 Jun 2023 - 16:14
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Corneal dystrophy - UGent
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments AGBL1 99.99 1 CHRDL1 99.94 1 CHST6 100.00 1 COL17A1 99.98 1 COL3A1 99.87 1 COL5A1 99.99 1 COL8A2 99.94 1 CYP4V2 99.98 1 DCN 99.42 1 GRHL2 100.00 1 GSN 99.93 1 KERA 99.95 1 KRT12 99.92 1 KRT3 99.89 1 LCAT 99.97 1 LOXHD1 99.99 1 NLRP1 95.26 1 NLRP3 100.00 1 OVOL2 100.00 1 PAX6 99.95 1 PIKFYVE 99.81 1 PITX2 99.98 1 PRDM5 99.76 1 SLC4A11 100.00 1 SOD1 99.97 1 STS 99.81 1 TACSTD2 100.00 1 TCF4 98.56 1 TGFBI 99.89 1 UBIAD1 99.98 1 VSX1 99.93 1 ZEB1 100.00 1 ZNF469 100.00 1 -
Epidermolysis bullosa and bladder diseases (60 genes) - KUL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ADAMTS2 95.00 0 NM_014244.5/ interpretable range CS1>95% ATP2A2 95.00 0 NM_001681.4/ interpretable range CS1>95% ATP2C1 95.00 0 NM_014382.5/ interpretable range CS1>95% CAST 95.00 0 NM_001042440.5/ interpretable range CS1>95% CD151 95.00 0 NM_004357.5/ interpretable range CS1>95% CDSN 95.00 0 NM_001264.5/ interpretable range CS1>95% CHST14 95.00 0 NM_130468.4/ interpretable range CS1>95% CHST8 95.00 0 NM_001127896.2/ interpretable range CS1>95% COL17A1 95.00 0 NM_000494.4/ interpretable range CS1>95% COL5A1 95.00 0 NM_000093.5/ interpretable range CS1>95% COL5A2 95.00 0 NM_000393.5/ interpretable range CS1>95% COL7A1 95.00 0 NM_000094.4/ interpretable range CS1>95% CSTA 95.00 0 NM_005213.4/ interpretable range CS1>95% CSTB 95.00 0 NM_000100.4/ interpretable range CS1>95% DSC3 95.00 0 NM_024423.4/ interpretable range CS1>95% DSG1 95.00 0 NM_001942.4/ interpretable range CS1>95% DSG2 95.00 0 NM_001943.5/ interpretable range CS1>95% DSG3 95.00 0 NM_001944.3/ interpretable range CS1>95% DSG4 95.00 0 NM_177986.5/ interpretable range CS1>95% DSP 95.00 0 NM_004415.4/ interpretable range CS1>95% DST 95.00 0 NM_001723.7/ interpretable range CS1>95% EXPH5 95.00 0 NM_015065.3/ interpretable range CS1>95% FERMT1 95.00 0 NM_017671.5/ interpretable range CS1>95% FLG2 95.00 0 NM_001014342.3/ interpretable range CS1>95% GJB2 95.00 0 NM_004004.6/ interpretable range CS1>95% GRIP1 95.00 0 NM_021150.4/ interpretable range CS1>95% IKBKG 95.00 0 NM_001099857.5/ interpretable range CS1>95% ITGA3 95.00 0 NM_002204.4/ interpretable range CS1>95% ITGA6 95.00 0 NM_000210.4/ interpretable range CS1>95% ITGB4 95.00 0 NM_001005731.3/ interpretable range CS1>95% JUP 95.00 0 NM_002230.4/ interpretable range CS1>95% KLHL24 95.00 0 NM_017644.3/ interpretable range CS1>95% KRT1 95.00 0 NM_006121.4/ interpretable range CS1>95% KRT10 95.00 0 NM_000421.5/ interpretable range CS1>95% KRT14 95.00 0 NM_000526.5/ interpretable range CS1>95% KRT16 95.00 0 NM_005557.4/ interpretable range CS1>95% KRT17 95.00 0 NM_000422.3/ interpretable range CS1>95% KRT2 95.00 0 NM_000423.3/ interpretable range CS1>95% KRT5 95.00 0 NM_000424.4/ interpretable range CS1>95% KRT6A 95.00 0 NM_005554.4/ interpretable range CS1>95% KRT6B 95.00 0 NM_005555.4/ interpretable range CS1>95% KRT6C 95.00 0 NM_173086.5/ interpretable range CS1>95% KRT9 95.00 0 NM_000226.4/ interpretable range CS1>95% LAMA3 95.00 0 NM_000227.6/ interpretable range CS1>95% LAMB3 95.00 0 NM_000228.3/ interpretable range CS1>95% LAMC2 95.00 0 NM_005562.3/ interpretable range CS1>95% MMP1 95.00 0 NM_002421.4/ interpretable range CS1>95% NID1 95.00 0 NM_002508.3/ interpretable range CS1>95% PKP1 95.00 0 NM_001005337.3/ interpretable range CS1>95% PLEC 95.00 0 NM_000445.5/ interpretable range CS1>95% PLOD3 95.00 0 NM_001084.5/ interpretable range CS1>95% SERPINB8 95.00 0 NM_198833.2/ interpretable range CS1>95% SLC39A4 95.00 0 NM_130849.4/ interpretable range CS1>95% SPINK5 95.00 0 NM_006846.4/ interpretable range CS1>95% TGM5 95.00 0 NM_201631.4/ interpretable range CS1>95% TP63 95.00 0 NM_003722.5/ interpretable range CS1>95% UROD 95.00 0 NM_000374.5/ interpretable range CS1>95% UROS 95.00 0 NM_000375.3/ interpretable range CS1>95% WNT10A 95.00 0 NM_025216.3/ interpretable range CS1>95%