Hypoalphalipoproteinemia
| 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
- ↑ Online Mendelian Inheritance in Man (OMIM) 604091
- ↑ 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.
- ↑ 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.
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