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fish eye disease

Disease Summary
Associated Targets (1)
Tchem

1


GARD Rare
Mondo Description Fish eye disease (FED) is a form of genetic LCAT (lecithin-cholesterol acyltransferase) deficiency characterized clinically by corneal opacifications, and biochemically by significantly reduced HDL cholesterol and partial LCAT enzyme deficiency.
Uniprot Description A disorder of lipoprotein metabolism due to partial lecithin-cholesterol acyltransferase deficiency that affects only alpha-LCAT activity. FED is characterized by low plasma HDL and corneal opacities due to accumulation of cholesterol deposits in the cornea ('fish-eye').
Mondo Term and Equivalent IDs
MONDO:0007620:  fish eye disease
GARD:0006450: 
Orphanet:79292: 
SCTID:238092004: 
UMLS:C0342895: