KEGG   DISEASE: H01108Help
Entry
H01108                      Disease                                

Name
CD36 deficiency;
Platelet glycoprotein IV deficiency
Description
Human genetic platelet glycoprotein IV (CD36) deficiency may be related to the phenotypic expression of the metabolic syndrome and is frequently associated with atherosclerotic cardiovascular diseases. CD36 deficiency is relatively frequent in Asian and African populations. It also has been reported that CD36 deficiency might be linked with cardiomyopathy. This deficiency can be classified in two subgroups: the type I phenotype is characterized by platelets and monocytes/macrophages that exhibit CD36 deficiency; whereas in the type II phenotype, the surface expression of CD36 is lacking only in platelets, but expression is near normal in monocytes/macrophages.
Category
Inherited metabolic disease
BRITE hierarchy
Pathway
PPAR signaling pathway
Phagosome
Adipocytokine signaling pathway
Fat digestion and absorption
Gene
CD36 [HSA:948] [KO:K06259]
Other DBs
MeSH: 
OMIM: 
Reference
PMID:12732446 (description, gene)
  Authors
Hirano K, Kuwasako T, Nakagawa-Toyama Y, Janabi M, Yamashita S, Matsuzawa Y
  Title
Pathophysiology of human genetic CD36 deficiency.
  Journal
Trends Cardiovasc Med 13:136-41 (2003)

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