KEGG   DISEASE: H00226Help
Entry
H00226                      Disease                                

Name
Glanzmann thrombasthenia
Description
Glanzmann thrombasthenia is a rare autosomal recessive bleeding syndrome affecting the megakaryocyte lineage and characterized by lack of platelet aggregation. This disease is caused by mutation in the integrin family receptor genes encoding platelet glycoprotein alpha-IIb or platelet glycoprotein IIIa.
Category
Hematologic disease
BRITE hierarchy
Pathway
ECM-receptor interaction
Focal adhesion
Gene
ITGA2B [HSA:3674] [KO:K06476]
ITGB3 [HSA:3690] [KO:K06493]
Drug
Coagulation factor VIIa [DR:D00172]
Other DBs
ICD-10: 
OMIM: 
Reference
  Authors
Nurden AT
  Title
Glanzmann thrombasthenia.
  Journal
Orphanet J Rare Dis 1:10 (2006)
Reference
  Authors
Poon MC, Zotz R, Di Minno G, Abrams ZS, Knudsen JB, Laurian Y
  Title
Glanzmann's thrombasthenia treatment: a prospective observational registry on the use of recombinant human activated factor VII and other hemostatic agents.
  Journal
Semin Hematol 43:S33-6 (2006)
Reference
  Authors
Nair S, Ghosh K, Kulkarni B, Shetty S, Mohanty D
  Title
Glanzmann's thrombasthenia: updated.
  Journal
Platelets 13:387-93 (2002)

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