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Fish-eye disease

Disease Export to PDF
Name:
Fish-eye disease
Description:
Fish eye disease (FED) is a form of genetic LCAT (lecithin-cholesterol acyltransferase) deficiency (see this term) characterized clinically by corneal opacifications, and biochemically by significantly reduced HDL cholesterol and partial LCAT enzyme deficiency.
ORPHAcode:
79292
Synonyms:
FED
Partial LCAT deficiency
XREF(s):
Orphanet
MeSH
OMIM
ICD-10
Analyte(s):
LCAT
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