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
External Links
Disease Ontology
DOID:0111046
Mondo Disease Ontology
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
27163 NAAA N-acylethanolamine acid amidase
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
Q02083 N-acylethanolamine-hydrolyzing acid amidase

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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: August 19, 2024