KEGG   DISEASE: Hypoalphalipoproteinemia
Entry
H00930                      Disease                                
Name
Hypoalphalipoproteinemia
  Subgroup
Lecithin:cholesterol acyltransferase deficiency [DS:H00158]
Tangier disease [DS:H00159]
Description
Hypoalphalipoproteinemia is a common finding in patients with premature coronary artery disease. Familial hypoalphalipoproteinemia syndromes are phenotypically heterogeneous. One form is associated with abnormal cellular cholesterol efflux caused by heterozygous mutations at the ABCA1 gene. Other forms are primary hypoalphalipoproteinemia caused by mutations of APOA1 gene.
Category
Congenital disorder of metabolism
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Congenital disorders of lipid/glycolipid metabolism
   H00930  Hypoalphalipoproteinemia
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Disorders of lipoprotein metabolism or certain specified lipidaemias
    5C81  Hypolipoproteinaemia
     H00930  Hypoalphalipoproteinemia
Related
pathway
hsa04975  Fat digestion and absorption
hsa04979  Cholesterol metabolism
Gene
ABCA1 [HSA:19] [KO:K05641]
APOA1 [HSA:335] [KO:K08757]
Comment
Tangier disease [DS:H00159] is also caused by mutations of ABCA1.
Other DBs
ICD-11: 5C81.0
ICD-10: E78.6
MeSH: D052456
OMIM: 604091 618463
Reference
PMID:15841208 (ABCA1)
  Authors
Timmins JM, Lee JY, Boudyguina E, Kluckman KD, Brunham LR, Mulya A, Gebre AK, Coutinho JM, Colvin PL, Smith TL, Hayden MR, Maeda N, Parks JS
  Title
Targeted inactivation of hepatic Abca1 causes profound hypoalphalipoproteinemia and kidney hypercatabolism of apoA-I.
  Journal
J Clin Invest 115:1333-42 (2005)
DOI:10.1172/JCI23915
Reference
PMID:10998475 (ABCA1)
  Authors
Mott S, Yu L, Marcil M, Boucher B, Rondeau C, Genest J Jr
  Title
Decreased cellular cholesterol efflux is a common cause of familial hypoalphalipoproteinemia: role of the ABCA1 gene mutations.
  Journal
Atherosclerosis 152:457-68 (2000)
DOI:10.1016/S0021-9150(99)00498-0
Reference
PMID:17991432 (APOA1)
  Authors
Esperon P, Raggio V, Stoll M, Vital M, Alallon W
  Title
A new APOA1 mutation with severe HDL-cholesterol deficiency and premature coronary artery disease.
  Journal
Clin Chim Acta 388:222-4 (2008)
DOI:10.1016/j.cca.2007.10.015
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