Hypoalphalipoproteinemia

Hypoalphalipoproteinemia is a high-density lipoprotein deficiency, inherited in an autosomal dominant manner.[1]

Hypoalphalipoproteinemia
Hypoalphalipoproteinemia has an autosomal dominant pattern of inheritance.
SpecialtyEndocrinology 


It can be associated with LDL receptor.[2]

Associated regions and genes include:

Name OMIM Locus Candidates
HDLCQ1 606613 9p ABCA1 (Tangier disease)[3]
HDLCQ2 607053 8q23
HDLCQ3 607687 16q24.1 Lecithin cholesterol acyltransferase deficiency (LCAT)
HDLCQ4 610239 4q32
HDLD3 605201 11q23.3 APOA1

Niacin is sometimes prescribed to raise HDL levels.

References
  1. Online Mendelian Inheritance in Man (OMIM): 604091
  2. Pisciotta L, Calabresi L, Lupattelli G, et al. (September 2005). "Combined monogenic hypercholesterolemia and hypoalphalipoproteinemia caused by mutations in LDL-R and LCAT genes". Atherosclerosis. 182 (1): 153–9. doi:10.1016/j.atherosclerosis.2005.01.048. PMID 16115486.
  3. Soro-Paavonen A, Naukkarinen J, Lee-Rueckert M, et al. (June 2007). "Common ABCA1 variants, HDL levels, and cellular cholesterol efflux in subjects with familial low HDL". J. Lipid Res. 48 (6): 1409–16. doi:10.1194/jlr.P600012-JLR200. PMID 17372331.
Classification
External resources
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