| Entry |
|
| 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
 |
| Pathway |
| PPAR signaling pathway | | Phagosome | | Adipocytokine signaling pathway | | Fat digestion and absorption |
|
| Gene |
|
| Other DBs |
|
| Reference |
|
| 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) |