KEGG   DISEASE: CD36 deficiency
Entry
H01108                      Disease                                
Name
CD36 deficiency;
Platelet glycoprotein IV deficiency;
Bleeding disorder platelet-type 10 (BDPLT10)
  Supergrp
Bleeding disorder platelet-type [DS:H01235]
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
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
     H01108  CD36 deficiency
Pathway-based classification of diseases [BR:br08402]
 Cellular process
  nt06535  Efferocytosis
   H01108  CD36 deficiency
Pathway
hsa04148  Efferocytosis
hsa04920  Adipocytokine signaling pathway
hsa04975  Fat digestion and absorption
hsa04979  Cholesterol metabolism
hsa04931  Insulin resistance
Network
nt06535 Efferocytosis
Gene
CD36 [HSA:948] [KO:K06259]
Other DBs
ICD-11: 5C80.Y
MeSH: C564245
OMIM: 608404
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)
DOI:10.1016/S1050-1738(03)00026-4
Reference
  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
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