Glanzmann disease


Glanzmann disease

 [glahnz´-man] Glanzmann thrombasthenia.

Glanz·mann throm·bas·the·ni·a

(glahntz'mahn), [MIM*187800] a hemorrhagic diathesis characterized by normal or prolonged bleeding time, normal coagulation time, defective clot retraction, and normal platelet count, but morphologic or functional abnormality of platelets; several different kinds of platelet abnormalities have been described; caused by defect in platelet membrane glycoprotein IIb-IIIa complex; autosomal recessive inheritance, caused by mutation in the platelet-membrane glycoprotein IIb-IIIa complex gene (ITGA2B) on chromosome 17. Synonym(s): constitutional thrombopathy, Glanzmann disease, hereditary hemorrhagic thrombasthenia

Glanzmann,

Eduard, Swiss clinician, 1887-1959. Glanzmann disease - Synonym(s): Glanzmann thrombastheniaGlanzmann-Naegeli syndrome - Synonym(s): Glanzmann thrombastheniaGlanzmann and Riniker lymphocytophthisis - agammaglobulinemia, absent thymus, severe cytopenia, recurring infections, and inability to form antibodies.Glanzmann thrombasthenia - a hemorrhagic diathesis due to defect in platelet membrane glycoprotein IIb-IIIa complex. Synonym(s): constitutional thrombopathy; Glanzmann disease; Glanzmann-Naegeli syndrome; hereditary hemorrhagic thrombasthenia