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Hypoalphalipoproteinemia

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Hypoalphalipoproteinemia
Hypoalphalipoproteinemia has an autosomal dominant pattern of inheritance.
SpecialtyEndocrinology Edit this on Wikidata

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


It can be associated with LDL receptor.[2]

Associated regions and genes include:

Name OMIM Locus Candidates
HDLCQ1 Template:OMIM2 9p ABCA1 (Tangier disease)[3]
HDLCQ2 Template:OMIM2 8q23
HDLCQ3 Template:OMIM2 16q24.1 Lecithin cholesterol acyltransferase deficiency (LCAT)
HDLCQ4 Template:OMIM2 4q32
HDLD3 Template:OMIM2 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.