/Glanzmann thrombasthenia 1

Glanzmann thrombasthenia 1

Rare Disease

MONDO:0031332

Also Known As

Glanzmann thrombastheniaGlanzmann's thrombastheniaBDPLT2Glanzmann thrombasthenia 1Thrombocytastheniadeficiency of GP IIb-IIIa complexdeficiency of glycoprotein complex IIb-IIIadeficiency of platelet fibrinogen receptorglycoprotein IIb/IIIa defectplatelet glycoprotein IIb-IIIa deficiencyplatelet-type bleeding disorder 2thrombastheniathrombasthenia of Glanzmann and NaegeliDiacyclothrombopathia 2B 3AGP IIb-IIIa Complex, deficiency ofGTGlanzmann thrombasthenia type APlatelet fibrinogen receptor, deficiency ofPlatelet glycoprotein 2B 3A deficiencyPlatelet glycoprotein IIb-IIIa deficiencybleeding disorder, Platelet-type, 2deficiency of GP 2B 3A complexglycoprotein Complex IIb-IIIa, deficiency of

Definition

A bleeding syndrome characterized by spontaneous mucocutaneous bleeding and an exaggerated response to trauma due to a constitutional thrombocytopenia

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Associated Genes

ITGA2B ↗

Gene data from MyGene.info • Click to view on NCBI Gene

External Resources

OMIM

OMIM:273800 ↗

GARD

GARD:15240 ↗

Related Diseases

Glanzmann thrombasthenia 2

MONDO:0031009

Rare

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