Lecithin–cholesterol acyltransferase deficiency
GPTKB entity
Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
rare disease |
| gptkbp:affects |
cholesterol metabolism
|
| gptkbp:alsoKnownAs |
LCAT deficiency
Norum disease |
| gptkbp:cause |
gptkb:anemia
proteinuria corneal opacities low HDL cholesterol progressive renal failure |
| gptkbp:diagnosedBy |
genetic testing
measurement of LCAT activity |
| gptkbp:firstDescribed |
1967
|
| https://www.w3.org/2000/01/rdf-schema#label |
Lecithin–cholesterol acyltransferase deficiency
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
LCAT gene
|
| gptkbp:prevalence |
very rare
|
| gptkbp:subspecies |
familial LCAT deficiency
fish-eye disease |
| gptkbp:treatment |
supportive care
kidney transplantation |
| gptkbp:bfsParent |
gptkb:LBA
|
| gptkbp:bfsLayer |
6
|