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high density lipoprotein (HDL) deficiency type 2; familial hypoalphalipoproteinemia type 2 (HDLD2)

Pathology: - dominished cellular cholesterol efflux Genetics: - autosomal dominant - associated with defects in ABCA1 [1] - associated with defects in APOA1 [2] Clinical manifestations: - predilection toward premature coronary artery disease Laboratory: - moderately low HDL cholesterol

General

familial HDL deficiency (familial hypoalphalipoproteinemia)

Database Correlations

OMIM correlations

References

  1. OMIM :accession 205400
  2. OMIM :accession 604091