| H01108 | |
| H number | H01108 |
| 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 disorder |
| Network | - |
| Gene | CD36 [HSA:948] [KO:K06259] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 5C80.Y MeSH: C564245 OMIM: 608404 |
| Reference | PMID:12732446 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) DOI:10.1016/S1050-1738(03)00026-4 PMID:17721545 AUTHORS Podrez EA, Byzova TV, Febbraio M, Salomon RG, Ma Y, Valiyaveettil M, Poliakov E, Sun M, Finton PJ, Curtis BR, Chen J, Zhang R, Silverstein RL, Hazen SL TITLE Platelet CD36 links hyperlipidemia, oxidant stress and a prothrombotic phenotype. JOURNAL Nat Med 13:1086-95 (2007) DOI:10.1038/nm1626 |