Glanzmann's thrombasthenia

Summary
Synonym
  • BDPLT2
  • Glanzmann thrombasthenia
  • Glycoprotein IIb/IIIa defect
  • Thrombocytasthenia
  • deficiency of GP IIb-IIIa complex
  • deficiency of glycoprotein complex IIb-IIIa
  • deficiency of platelet fibrinogen receptor
  • platelet glycoprotein IIb-IIIa deficiency
  • platelet-type bleeding disorder 2
  • thrombasthenia of Glanzmann and Naegeli
Definition
A blood coagulation disease characterized by autosomal recessive inheritance of failure of platelet aggregation and absent or diminished clot retraction that has_material_basis_in mutation in the ITGA2B or ITGB3 genes on chromosome 17q21.32.
Super Class
blood platelet disease
External Links
Disease Ontology
DOID:2219
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying entries 1 - 10 of 13 in total
Gene ID Gene Symbol Description Source
1738 DLD dihydrolipoamide dehydrogenase
3956 LGALS1 galectin 1
3964 LGALS8 galectin 8
4669 NAGLU N-acetyl-alpha-glucosaminidase
5319 PLA2G1B phospholipase A2 group IB
5320 PLA2G2A phospholipase A2 group IIA
6403 SELP selectin P
7412 VCAM1 vascular cell adhesion molecule 1
8398 PLA2G6 phospholipase A2 group VI
10855 HPSE heparanase

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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