Details of Disease

General Information of Disease (ID: DISPUX00)

Disease Name Hyperalphalipoproteinemia
Synonyms HALP1
Definition
An autosomal dominant genetic condition caused by mutation(s) in the CETP gene, encoding cholesteryl ester transfer protein. Affected individuals may have increased longevity due to decreased risk of coronary heart disease.
Disease Hierarchy
DISVBLBO: Hyperlipoproteinemia
DIS28TLT: Hyperlipemia
DISPUX00: Hyperalphalipoproteinemia
Disease Identifiers
MONDO ID
MONDO_0015903
MESH ID
C564591
UMLS CUI
C0342883
MedGen ID
87465
Orphanet ID
181428
SNOMED CT ID
238080004

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 6 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
APOC3 TTXOZQ1 Limited Genetic Variation [1]
APOA1 TT5S8DR Strong Altered Expression [2]
LCAT TTGZ91P Strong Biomarker [3]
LIPG TTHSZXO Strong Biomarker [4]
APOA2 TTGQA9W Definitive Biomarker [5]
PLTP TTZF6SN Definitive Altered Expression [6]
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⏷ Show the Full List of 6 DTT(s)
This Disease Is Related to 4 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
GALNT2 OTZZ5386 Strong Biomarker [7]
GPR162 OTK4LT3K Strong Genetic Variation [8]
LIPC OTZY5SC9 Strong Genetic Variation [9]
LRP4 OTO4M459 Strong Biomarker [10]
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References

1 Two novel mutations in apolipoprotein C3 underlie atheroprotective lipid profiles in families.Clin Genet. 2014 May;85(5):433-40. doi: 10.1111/cge.12201. Epub 2013 Jun 24.
2 Relation of High-Density Lipoprotein Charge Heterogeneity, Cholesterol Efflux Capacity, and the Expression of High-Density Lipoprotein-Related Genes in Mononuclear Cells to the HDL-Cholesterol Level.Lipids. 2018 Oct;53(10):979-991. doi: 10.1002/lipd.12104. Epub 2018 Nov 15.
3 Hyperalphalipoproteinemia in human lecithin cholesterol acyltransferase transgenic rabbits. In vivo apolipoprotein A-I catabolism is delayed in a gene dose-dependent manner.J Clin Invest. 1996 Apr 15;97(8):1844-51. doi: 10.1172/JCI118614.
4 Resequencing CETP, LIPC and LIPG genes in Thai subjects with hyperalphalipoproteinemia.Am J Cardiol. 2012 Jul 1;110(1):62-6. doi: 10.1016/j.amjcard.2012.02.052. Epub 2012 Mar 29.
5 Bioinformatic Analysis of Plasma Apolipoproteins A-I and A-II Revealed Unique Features of A-I/A-II HDL Particles in Human Plasma.Sci Rep. 2016 Aug 16;6:31532. doi: 10.1038/srep31532.
6 The role of plasma lipid transfer proteins in lipoprotein metabolism and atherogenesis.J Lipid Res. 2009 Apr;50 Suppl(Suppl):S201-6. doi: 10.1194/jlr.R800061-JLR200. Epub 2008 Nov 20.
7 Segregation of LIPG, CETP, and GALNT2 mutations in Caucasian families with extremely high HDL cholesterol.PLoS One. 2012;7(8):e37437. doi: 10.1371/journal.pone.0037437. Epub 2012 Aug 27.
8 High density lipoproteins, reverse transport of cholesterol, and coronary artery disease. Insights from mutations.Circulation. 1993 Apr;87(4 Suppl):III28-34.
9 Functional characterization of novel variants in the CETP promoter and the LIPC gene in subjects with hyperalphalipoproteinemia.Clin Chim Acta. 2013 Feb 1;416:92-5. doi: 10.1016/j.cca.2012.11.024. Epub 2012 Dec 5.
10 Novel polymorphisms associated with hyperalphalipoproteinemia and apparent cardioprotection.J Clin Lipidol. 2018 Jan-Feb;12(1):110-115. doi: 10.1016/j.jacl.2017.10.021. Epub 2017 Nov 21.