KEGG   DISEASE: Hyperlipoproteinemia, type VHelp
Entry
H00157                      Disease                                

Name
Hyperlipoproteinemia, type V
  Supergrp
Hyperlipidemia [DS:H01635]
Primary hyperchylomicronemia [DS:H01784]
Description
Type V hyperlipoproteinemia is an autosomal recessive disorder caused by deficiency of apolipoprotein A-V and characterized by an increase of chylomicrons and VLDL and a decrease of LDL and HDL in the plasma after a fast.
Category
Inherited metabolic disease
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Congenital disorders of lipid/glycolipid metabolism
   H00157  Hyperlipoproteinemia, type V
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
     H00157  Hyperlipoproteinemia, type V
BRITE hierarchy
Pathway
hsa03320  PPAR signaling pathway
Gene
APOA5; apolipoprotein A-V [HSA:116519] [KO:K09025]
Other DBs
ICD-11: 5C80.1
ICD-10: E78.3
MeSH: D006954
OMIM: 144650
Reference
  Authors
Calandra S, Priore Oliva C, Tarugi P, Bertolini S
  Title
APOA5 and triglyceride metabolism, lesson from human APOA5 deficiency.
  Journal
Curr Opin Lipidol 17:122-7 (2006)
DOI:10.1097/01.mol.0000217892.00618.54
Reference
  Authors
Rensen PC, van Dijk KW, Havekes LM
  Title
Apolipoprotein AV: low concentration, high impact.
  Journal
Arterioscler Thromb Vasc Biol 25:2445-7 (2005)
DOI:10.1161/01.ATV.0000193889.65915.f9
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