Hypoalphalipoproteinemia, primary, 2, intermediate

Synonyms: HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2, AUTOSOMAL DOMINANT

Summary

Intermediate primary alphalipoproteinemia-2 is an autosomal dominant condition characterized by half-normal plasma levels of apoA-I and HDL-C (Yamakawa-Kobayashi et al., 1999). Affected individuals may develop xanthomas and corneal opacities, but most do not have increased cardiovascular risk (summary by Rader and deGoma, 2012). For a discussion of genetic heterogeneity of hypoalphalipoproteinemia, see 604091. [from OMIM]

Available tests

3 tests are in the database for this condition.

Clinical tests (3 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

Associated genes Help
Genes reported to contribute to the condition.

APOA1
75 tests
Also known as: HPALP2, apo(a), APOA1
Summary: apolipoprotein A1

Imported from Human Phenotype Ontology (HPO)

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Abnormality of metabolism/homeostasis
- Decreased HDL cholesterol concentration
  Decreased HDL cholesterol concentration
  - MedGen UID: 57731
  - Concept ID: C0151691
  - Finding: Finding
  Abnormality of metabolism/homeostasis
  See: Feature record | Search on this feature
- Decreased circulating apolipoprotein A-I concentration
  Decreased circulating apolipoprotein A-I concentration
  - MedGen UID: 1634454
  - Concept ID: C4703545
  - Finding: Finding
  Abnormality of metabolism/homeostasis
  See: Feature record | Search on this feature

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Clinical resources

Molecular resources

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