KEGG   DISEASE: Hyperlipoproteinemia, type I
Entry
H00154                      Disease                                
Name
Hyperlipoproteinemia, type I
  Supergrp
Primary hyperchylomicronemia [DS:H01784]
Hyperlipidemia [DS:H01635]
Description
Type I hyperlipoproteinemia is an autosomal recessive disorder caused by deficiency of lipoprotein lipase or its activator apolipoprotein C-II. The defects result in a massive increase in chylomicron and triglyceride levels in plasma.
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
     H00154  Hyperlipoproteinemia, type I
Pathway
hsa00561  Glycerolipid metabolism
hsa03320  PPAR signaling pathway
Gene
LPL [HSA:4023] [KO:K01059]
APOC2 [HSA:344] [KO:K22287]
GPIHBP1 [HSA:338328] [KO:K20001]
Drug
Alipogene tiparvovec [DR:D10843] (LPL S447X variant)
Other DBs
ICD-11: 5C80.1
ICD-10: E78.3
MeSH: D008072
OMIM: 238600 207750 615947
Reference
PMID:15719847 (LPL)
  Authors
Nierman MC, Rip J, Twisk J, Meulenberg JJ, Kastelein JJ, Stroes ES, Kuivenhoven JA
  Title
Gene therapy for genetic lipoprotein lipase deficiency: from promise to practice.
  Journal
Neth J Med 63:14-9 (2005)
Reference
PMID:8843465 (LPL)
  Authors
Murthy V, Julien P, Gagne C
  Title
Molecular pathobiology of the human lipoprotein lipase gene.
  Journal
Pharmacol Ther 70:101-35 (1996)
DOI:10.1016/0163-7258(96)00005-8
Reference
PMID:2010533 (LPL)
  Authors
Ameis D, Kobayashi J, Davis RC, Ben-Zeev O, Malloy MJ, Kane JP, Lee G, Wong H, Havel RJ, Schotz MC
  Title
Familial chylomicronemia (type I hyperlipoproteinemia) due to a single missense mutation in the lipoprotein lipase gene.
  Journal
J Clin Invest 87:1165-70 (1991)
DOI:10.1172/JCI115114
Reference
PMID:3225819 (APOC2)
  Authors
Cox DW, Wills DE, Quan F, Ray PN
  Title
A deletion of one nucleotide results in functional deficiency of apolipoprotein CII (apo CII Toronto).
  Journal
J Med Genet 25:649-52 (1988)
DOI:10.1136/jmg.25.10.649
Reference
PMID:19304573 (GPIHBP1)
  Authors
Beigneux AP, Franssen R, Bensadoun A, Gin P, Melford K, Peter J, Walzem RL, Weinstein MM, Davies BS, Kuivenhoven JA, Kastelein JJ, Fong LG, Dallinga-Thie GM, Young SG
  Title
Chylomicronemia with a mutant GPIHBP1 (Q115P) that cannot bind lipoprotein lipase.
  Journal
Arterioscler Thromb Vasc Biol 29:956-62 (2009)
DOI:10.1161/ATVBAHA.109.186577

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Disease (3)   
   OMIM (3)   
Drug (1)   
   KEGG DRUG (1)   
Gene (6)   
   KEGG ORTHOLOGY (3)   
   KEGG GENES (3)   
Literature (5)   
   PubMed (5)   
All databases (15)   

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