H00156 | |
H number | H00156 |
Name | Hyperlipoproteinemia, type III; Dysbetalipoproteinemia |
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 |
Network | - |
Gene | APOE [HSA:348] [KO:K04524] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | Fenofibric acid [DR:D11579] |
Comment | - |
Other DBs | ICD-11: 5C80.2 ICD-10: E78.2 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 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 |