Hypoalphalipoproteinemia

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Hypoalphalipoproteinemia
Classification and external resources
Specialty endocrinology
ICD-10 E78.6
ICD-9-CM 272.5
OMIM 604091
eMedicine med/3368
MeSH D052456

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

Hypoalphalipoproteinemia has an autosomal dominant pattern of inheritance.

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[edit]

  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.