platelet-type bleeding disorder 10

Summary
Synonym
  • BDPLT10
  • CD36 deficiency
  • platelet glycoprotein IV deficiency
Definition
A blood platelet 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.
Super Class
autosomal recessive disease blood platelet disease
Disease Ontology
DOID:0111046
Mondo Disease Ontology
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
948 CD36 CD36 molecule (CD36 blood group)
5054 SERPINE1 serpin family E member 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
12491 Cd36 CD36 molecule
Displaying 1 entry
Gene ID Gene Symbol Description Source
24617 Serpine1 serpin family E member 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
38868 Snmp2 Sensory neuron membrane protein 2
Displaying all 3 entries
Gene ID Gene Symbol Description Source
176673 scav-3 Sensory neuron membrane protein 2
176787 scav-2 SCAVenger receptor (CD36 family) related
178672 srp-3 Serpin domain-containing protein

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024