KEGG   DISEASE: Glanzmann thrombastheniaHelp
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
Human diseases [BR:br08402]
 Cardiovascular diseases
  Hematologic diseases
   H00226  Glanzmann thrombasthenia
Human diseases in ICD-11 classification [BR:br08403]
 03 Diseases of the blood or blood-forming organs
  Coagulation defects, purpura or other haemorrhagic or related conditions
   Fibrinolytic defects
    3B62  Qualitative platelet defects
     H00226  Glanzmann thrombasthenia
BRITE hierarchy
Pathway
hsa04512  ECM-receptor interaction
hsa04510  Focal adhesion
Gene
ITGA2B [HSA:3674] [KO:K06476]
ITGB3 [HSA:3690] [KO:K06493]
Other DBs
ICD-11: 3B62.0Y
ICD-10: D69.1
OMIM: 273800 273800
Reference
  Authors
Nurden AT
  Title
Glanzmann thrombasthenia.
  Journal
Orphanet J Rare Dis 1:10 (2006)
DOI:10.1186/1750-1172-1-10
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)
DOI:10.1053/j.seminhematol.2005.11.009
Reference
  Authors
Nair S, Ghosh K, Kulkarni B, Shetty S, Mohanty D
  Title
Glanzmann's thrombasthenia: updated.
  Journal
Platelets 13:387-93 (2002)
DOI:10.1080/0953710021000024394

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