Details of Disease

General Information of Disease (ID: DIS8UDNZ)

• Disease Name: Glanzmann thrombasthenia 1
• Synonyms: Diacyclothrombopathia 2B 3A; bleeding disorder, Platelet-type, 2; Platelet fibrinogen receptor, deficiency of; GT; Platelet glycoprotein IIb-IIIa deficiency; glycoprotein Complex IIb-IIIa, deficiency of; deficiency of GP 2B 3A complex; GP IIb-IIIa Complex, deficiency of; Glanzmann thrombasthenia type A; Platelet glycoprotein 2B 3A deficiency; Glanzmann's thrombasthenia; Glanzmann thrombasthenia; deficiency of glycoprotein complex IIb-IIIa; Thrombocytasthenia; deficiency of platelet fibrinogen receptor; thrombasthenia of Glanzmann and Naegeli; BDPLT2; platelet glycoprotein IIb-IIIa deficiency; glycoprotein IIb/IIIa defect; thrombasthenia; Glanzmann thrombasthenia 1; platelet-type bleeding disorder 2; deficiency of GP IIb-IIIa complex
• Definition: A bleeding syndrome characterized by spontaneous mucocutaneous bleeding and an exaggerated response to trauma due to a constitutional thrombocytopenia
• Disease Hierarchy:
  DISFGGTG: Glanzmann thrombasthenia
  DIS8UDNZ: Glanzmann thrombasthenia 1

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ITGA2B	OT4Y17PY	Strong	Autosomal recessive	[1]

References

• [1] Glanzmann thrombasthenia: a review of ITGA2B and ITGB3 defects with emphasis on variants, phenotypic variability, and mouse models. Blood. 2011 Dec 1;118(23):5996-6005. doi: 10.1182/blood-2011-07-365635. Epub 2011 Sep 13.