Type IIa hyperlipidaemia
Definition: Hypercholesterolemia that is caused by mutation in the LOW DENSITY LIPOPROTEIN RECEPTOR gene. This receptor defect prevents LDL binding to the cell membrane and uptake of cholesterol which normally suppresses further cholesterol synthesis.
Synonyms (terms occurring on more labels are shown first):
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Drugs with this side effect as MedDRA Preferred Term
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