| Symbol
| LCAT
|
| Location
| 16q22.1
|
| Name
|
lecithin, cholesterol acyltransferase deficiency |
| Other name(s)
|
Norum disease
. hypercholesterolemia, unesterified
. familial LCAT deficiency |
| Corresponding gene
|
LCAT
|
| Other symbol(s)
| FLD
|
| Main clinical features
|
characterized by corneal opacities, target cell hemolytic anemia, proteinuria with renal failure, Norum disease including susceptibility to familial combined hyperlipemia and premature coronary artery disease |
| Genetic determination
| autosomal recessive |
| Function/system disorder
| eye |
|
| metabolism/lipoprotein-lipid |
| Type
| disease
|