Amish, Mennonite, and Hutterite
Genetic Disorder Database

Glanzmann Thrombasthenia

Disorder
OMIM #: #273800  (Click to access OMIM database)
Disorder: Glanzmann Thrombasthenia 
Also known as: BLEEDING DISORDER, PLATELET-TYPE, 2
BDPLT2
THROMBASTHENIA OF GLANZMANN AND NAEGELI
PLATELET GLYCOPROTEIN IIb-IIIa DEFICIENCY, DEFICIENCY OF GP IIb-IIIa COMPLEX, DEFICIENCY OF PLATELET FIBRINOGEN RECEPTOR, DEFICIENCY OF GLYCOPROTEIN COMPLEX IIb-IIIa 
Clinical
Phenotype: epistaxis, petechiae, purpura, excessive bruising, hemarthroses, menorrhagia, other bleeding tendency 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
1   Unknown / Other Mennonite  
Gene: ITGA2B
Base Change: C>G, at nucleotide 526
Amino Acid Change: pro 176 --> ala
Last updated: 2018-12-12 

References
Basani R, French D, Vilaire G, Brown D, Chen F, Coller B, Derrick J, Gartner T, Bennett J, and Poncz M. (2000) A naturally occurring mutation near the amino terminus of alphaIIb3 defines a new region involved in ligand binding to alphaIIbbeta3. Blood 95(1): 180-188.
PubMed ID: 10607701 

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