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Fuchs endothelial corneal dystrophy

Disease Export to PDF
Name:
Fuchs endothelial corneal dystrophy
Description:
A disorder that is the most frequent form of posterior corneal dystrophy and is characterized by excrescences on a thickened Descemet membrane (corneal guttae), generalized corneal edema, with gradually decreased visual acuity.
ORPHAcode:
98974
Synonyms:
Endoepithelial corneal dystrophy
FECD
Late hereditary endothelial dystrophy
XREF(s):
Orphanet
OMIM
OMIM
OMIM
OMIM
OMIM
OMIM
OMIM
OMIM
ICD-10
Analyte(s):
SLC4A11
ZEB1
COL8A2
TCF4
AGBL1
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14
  • 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