Hypoalphalipoproteinemia, primary, 1
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Sign InDescription
Twenty to 30% of early familial coronary heart disease (CHD) is ascribed to hypoalphalipoproteinemia, or high density lipoprotein deficiency. Although not initially recognized as a predisposing dyslipidemia, extensive epidemiologic work has implicated low high-density lipoprotein cholesterol (HDLC) levels in increased risk of cardiovascular disease, and low HDLC is considered to be a true dyslipidemic syndrome (Warnick and Wood, 1995). Genetic Heterogeneity of Primary Hypoalphalipoproteinemia Primary hypoalphalipoproteinemia-2 (618463) is caused by mutation in the APOA1 gene (107680) on chromosome 11q23.
Mode of Inheritance
- Autosomal dominant inheritance
VARIANTS
258