MeSH

A condition with abnormally high levels of CHOLESTEROL in the blood. It is defined as a cholesterol value exceeding the 95th percentile for the population.

Year introduced: 1980

A rare inherited genetic disorder, one form of HYPERLIPOPROTEINEMIA TYPE II, characterized by high level of LOW-DENSITY LIPOPROTEIN (LDL) which if not treated could elevate the chance of heart attack at an early age.

Year introduced: 2022

A group of familial disorders characterized by elevated circulating cholesterol contained in either LOW-DENSITY LIPOPROTEINS alone or also in VERY-LOW-DENSITY LIPOPROTEINS (pre-beta lipoproteins).

Year introduced: 2007 (1980)

An autosomal recessively inherited disorder characterized by the accumulation of intermediate-density lipoprotein (IDL or broad-beta-lipoprotein). IDL has a CHOLESTEROL to TRIGLYCERIDES ratio greater than that of VERY-LOW-DENSITY LIPOPROTEINS. This disorder is due to mutation of APOLIPOPROTEINS E, a receptor-binding component of VLDL and CHYLOMICRONS, resulting in their reduced clearance and high plasma levels of both cholesterol and triglycerides.

Year introduced: 1980

RefSeq NM_000527

mutation in PCSK9

A hereditary autosomal recessive disorder that is characterized by the unregulated intestinal absorption of both CHOLESTEROL and PHYTOSTEROLS. Patients have very high plasma levels of phytosterols and develop XANTHOMA at tendons and joints (tuberous xanthoma), ATHEROSCLEROSIS, and premature CORONARY ARTERY DISEASE. Mutations in the ABCG5 and ABCG8 genes have been identified. OMIM: 210250

RefSeq NM_145554

required for vitellogenesis; amino acid sequence in first source