Hypoalphalipoproteinemia

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Hypoalphalipoproteinemia
Autosomal dominant - en.svg
Hypoalphalipoproteinemia has an autosomal dominant pattern of inheritance.
Specialty Endocrinology   OOjs UI icon edit-ltr-progressive.svg

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

Contents

It can be associated with LDL receptor. [2]

Associated regions and genes include:

Name OMIM LocusCandidates
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.[ citation needed ]

See also

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. hdl: 11380/449950 . 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.