" /> Bleeding disorder, platelet-type, 16 - CISMeF





Preferred Label : Bleeding disorder, platelet-type, 16;

Symbol : BDPLT16;

CISMeF acronym : BDPLT16;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Glanzmann thrombasthenia-like with macrothrombocytopenia 1;

Description : Glanzmann thrombasthenia is a bleeding disorder characterized by failure of platelet aggregation and by absent or diminished clot retraction. For a phenotypic description and a discussion of genetic heterogeneity of autosomal recessive Glanzmann thrombasthenia, see 273800.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the integrin, beta-3 gene (ITGB3, 173470.0018); Caused by mutation in the integrin, alpha-2b gene (ITGA2B, 607759.0017);

Prefixed ID : #187800;

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30/07/2025


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