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platelet-type bleeding disorder 10

Disease Summary
Associated Targets (3)
Tbio

2

Tchem

1


Mondo Description Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the CD36 gene.
Uniprot Description A disorder characterized by macrothrombocytopenia without notable hemostatic problems and bleeding tendency. Platelet glycoprotein IV deficiency can be divided into 2 subgroups. The type I phenotype is characterized by platelets and monocytes/macrophages exhibiting complete CD36 deficiency. The type II phenotype lacks the surface expression of CD36 in platelets, but expression in monocytes/macrophages is near normal.
Disease Ontology Description An inherited blood coagulation disease characterized by autosomal recessive inheritance of variable bleeding tendency, thrombocytopenia, giant platelets, and prolonged bleeding times that has material basis in homozygous or compound heterozygous mutation in the CD36 antigen gene on chromosome 7q21.
Mondo Term and Equivalent IDs
MONDO:0012031:  platelet-type bleeding disorder 10
MESH:C564245: 
UMLS:C1842090: