Hypoalphalipoproteinemia, Primary, 2 (FHA2)

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OMIM®: ⁵⁷ Primary hypoalphalipoproteinemia-2 is an autosomal recessive disorder characterized by dysfunctional apoA-I production, resulting in undetectable levels of apoA-I in serum and in markedly low levels of serum high density lipoprotein cholesterol (HDL-C). The disorder is associated with extensive atherosclerosis, xanthomas, and corneal opacities (summary by Tanaka et al., 2018). For a discussion of genetic heterogeneity of primary hypoalphalipoproteinemia, see 604091. (618463) (Updated 08-Dec-2022)

MalaCards based summary: Hypoalphalipoproteinemia, Primary, 2, also known as apolipoprotein a-i deficiency, is related to tangier disease and hypoalphalipoproteinemia, primary, 1. An important gene associated with Hypoalphalipoproteinemia, Primary, 2 is APOA1 (Apolipoprotein A1), and among its related pathways/superpathways are Metabolism and Transport of inorganic cations/anions and amino acids/oligopeptides. The drugs Atorvastatin and Nicotinamide have been mentioned in the context of this disorder. Affiliated tissues include heart, endothelial and liver, and related phenotypes are opacification of the corneal stroma and decreased hdl cholesterol concentration

Disease Ontology: ¹¹ A hypolipoproteinemia that is characterized by dysfunctional apoA-I production, resulting in undetectable levels of apoA-I in serum and in markedly low levels of serum high density lipoprotein cholesterol, is generally an autosomal recessive disorder associated with extensive atherosclerosis, xanthomas, and corneal opacities, and that has material basis in homozygous, compound heterozygous, or heterozygous mutation in the APOA1 gene on chromosome 11q23.

UniProtKB/Swiss-Prot: ⁷³ An autosomal recessive disorder of lipoprotein metabolism, biochemically characterized by severe apoA-I deficiency and severely reduced serum high-density lipoprotein cholesterol (HDL-C). Affected individuals have undetectable serum levels of apoA-I, and develop xanthomas and corneal opacities. The disease is generally associated with atherosclerosis and markedly increased cardiovascular risk.

Orphanet: ⁵⁸ A rare lipoprotein metabolism disorder characterized biochemically by complete absence of apolipoprotein AI and extremely low plasma high density lipoprotein (HDL) cholesterol, and clinically by corneal opacities and xanthomas complicated with premature coronary heart disease (CHD).

Clinical features from OMIM®:

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