Glanzmann thrombasthenia

(redirected from constitutional thrombopathy)

thrombasthenia

 [throm″bas-the´ne-ah]
1. decreased platelet function; called also thromboasthenia.
Glanzmann thrombasthenia a hereditary platelet abnormality characterized by defective clot retraction, prolonged bleeding time, and related symptoms such as epistaxis and inappropriate bleeding. Clinically there is abnormal glass adhesion and impaired aggregation to ADP, collagen, and thrombin. Called also thrombasthenia and Glanzmann's disease.

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 thrombasthenia

severe mucocutaneous bleeding disorder caused by one of a series of mutations in platelet glycoprotein IIb or IIIa with a defect of fibrinogen-dependent platelet aggregation. See thrombasthenia.

Glanz·mann thromb·as·the·ni·a

(glahnts'mahn throm'bas-thē'nē-ă)
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.

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
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