KEGG   DISEASE: H01199Help
Entry
H01199                      Disease                                

Name
Hyperalphalipoproteinemia
Description
Hyperalphalipoproteinemia (HALP) is a condition of elevated high-density lipoprotein cholesterol (HDL-C) level caused by a variety of genetic and environmental factors. The most important cause of primary HALP is a genetic deficiency of CETP, which has been reported mainly from Japan. A mutation in APOC3 gene is also associated in some families. Familial HALP often coexists with longevity, and that higher HDL-C levels are found among healthy elderly. HALP is also associated with some diseases. Recent studies have shown that hetero and homozygosity for CETP gene mutations is associated with an increased coronary artery disease (CAD) risk.
Category
Inherited metabolic disease; Hematologic disease
BRITE hierarchy
Pathway
PPAR signaling pathway
Gene
CETP [HSA:1071] [KO:K16835]
APOC3 [HSA:345] [KO:K08759]
Other DBs
ICD-10: 
MeSH: 
OMIM: 
Reference
PMID:11111094 (description, gene)
  Authors
Yamashita S, Hirano K, Sakai N, Matsuzawa Y
  Title
Molecular biology and pathophysiological aspects of plasma cholesteryl ester transfer protein.
  Journal
Biochim Biophys Acta 1529:257-75 (2000)
Reference
PMID:19041386 (description, gene)
  Authors
Boes E, Coassin S, Kollerits B, Heid IM, Kronenberg F
  Title
Genetic-epidemiological evidence on genes associated with HDL cholesterol levels: a systematic in-depth review.
  Journal
Exp Gerontol 44:136-60 (2009)
Reference
PMID:15767853 (description, gene)
  Authors
Hovingh GK, de Groot E, van der Steeg W, Boekholdt SM, Hutten BA, Kuivenhoven JA, Kastelein JJ
  Title
Inherited disorders of HDL metabolism and atherosclerosis.
  Journal
Curr Opin Lipidol 16:139-45 (2005)
Reference
PMID:19074352 (gene)
  Authors
Pollin TI, Damcott CM, Shen H, Ott SH, Shelton J, Horenstein RB, Post W, McLenithan JC, Bielak LF, Peyser PA, Mitchell BD, Miller M, O'Connell JR, Shuldiner AR
  Title
A null mutation in human APOC3 confers a favorable plasma lipid profile and apparent cardioprotection.
  Journal
Science 322:1702-5 (2008)
Reference
PMID:2022742 (gene)
  Authors
von Eckardstein A, Holz H, Sandkamp M, Weng W, Funke H, Assmann G
  Title
Apolipoprotein C-III(Lys58----Glu). Identification of an apolipoprotein C-III variant in a family with hyperalphalipoproteinemia.
  Journal
J Clin Invest 87:1724-31 (1991)

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