" /> Fish-eye disease - CISMeF





Preferred Label : Fish-eye disease;

Symbol : FED;

CISMeF acronym : FED;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Dyslipoproteinemic corneal dystrophy; Lcata deficiency; Alpha-lcat deficiency; Alpha-lecithin:cholesterol acyltransferase deficiency;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutations in lecithin:cholesterol acyltransferase gene (LCAT, 606967.0005).;

Laboratory abnormalities : Increased plasma triglycerides; Increased plasma VLDL, LDL; Low plasma HDL; Hypoalphalipoproteinemia; Deficient plasma alpha-lecithin:cholesterol acyltransferase (high-density) activity;

Prefixed ID : #136120;

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04/05/2025


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