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Human Disease

Glanzmann's thrombasthenia

Term ID
DOID:2219
Synonyms
  • BDPLT2
  • deficiency of glycoprotein complex IIb-IIIa
  • deficiency of GP IIb-IIIa complex
  • deficiency of platelet fibrinogen receptor
  • Glanzmann thrombasthenia
  • Glycoprotein IIb/IIIa defect
  • platelet glycoprotein IIb-IIIa deficiency
  • platelet-type bleeding disorder 2
  • thrombasthenia of Glanzmann and Naegeli
  • Thrombocytasthenia
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. (3)
References
  • GARD:2478
  • ICD10CM:D69.1
  • MESH:D013915
  • MIM:273800
  • NCI:C61249
  • ORDO:849
  • SNOMEDCT_US_2023_03_01:32942005
  • UMLS_CUI:C0040015
Ontology
Human Disease   ( DOID:2219 )
Relationships
is a type of
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Genes Involved
Zebrafish Models