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GTR Home > Conditions/Phenotypes > Hypoalphalipoproteinemia, primary, 2

Hypoalphalipoproteinemia, primary, 2

Synonyms
HIGH DENSITY LIPOPROTEIN DEFICIENCY; HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2, AUTOSOMAL RECESSIVE

Summary

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. [from OMIM]

Available tests

8 tests are in the database for this condition.

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Clinical tests (8 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: AMYLD3, HPALP2, apo(a), APOA1
    Summary: apolipoprotein A1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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