KEGG   DISEASE: Hyperlipoproteinemia, type III
Entry
H00156                      Disease                                
Name
Hyperlipoproteinemia, type III;
Dysbetalipoproteinemia
  Supergrp
Hyperlipidemia [DS:H01635]
Description
Hyperlipoproteinemia type III is an autosomal recessive disorder characterized by the accumulation of intermediate-density lipoprotein due to mutation of apolipoprotein E.
Category
Inherited metabolic disorder
Brite
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Disorders of lipoprotein metabolism or certain specified lipidaemias
    5C80  Hyperlipoproteinaemia
     H00156  Hyperlipoproteinemia, type III
Pathway
hsa04979  Cholesterol metabolism
Gene
APOE [HSA:348] [KO:K04524]
Drug
Fenofibric acid [DR:D11579]
Other DBs
ICD-11: 5C80.2
MeSH: D006952
OMIM: 617347
Reference
PMID:17593519 (APOE)
  Authors
Karube M, Nakabayashi K, Fujioka Y, Yoshihara K, Yamada A, Matsunaga A, Saito T
  Title
Lipoprotein glomerulopathy-like disease in a patient with type III hyperlipoproteinemia due to apolipoprotein E2 (Arg158 Cys)/3 heterozygosity.
  Journal
Clin Exp Nephrol 11:174-9 (2007)
DOI:10.1007/s10157-007-0469-4
Reference
PMID:15630634
  Authors
Smelt AH, de Beer F
  Title
Apolipoprotein E and familial dysbetalipoproteinemia: clinical, biochemical, and genetic aspects.
  Journal
Semin Vasc Med 4:249-57 (2004)
DOI:10.1055/s-2004-861492
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