Glanzmann disease


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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.

Glanzmann,

Eduard, Swiss clinician, 1887-1959.
Glanzmann disease - Synonym(s): Glanzmann thrombasthenia
Glanzmann-Naegeli syndrome - Synonym(s): Glanzmann thrombasthenia
Glanzmann 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