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
Congenital disorder of metabolism
Brite
Human diseases [BR:br08402]
Congenital disorders of metabolism
Other congenital disorders of metabolism
H01108 CD36 deficiency
