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GTR Home > Conditions/Phenotypes > Bleeding disorder, platelet-type, 24

Bleeding disorder, platelet-type, 24

Synonyms
GLANZMANN THROMBASTHENIA-LIKE WITH MACROTHROMBOCYTOPENIA 2

Summary

Platelet-type bleeding disorder-24 (BDPLT24) is an autosomal dominant form of congenital macrothrombocytopenia associated with platelet anisocytosis. It is a disorder of platelet production. Affected individuals may have no or only mildly increased bleeding tendency. In vitro studies show mild platelet functional abnormalities (summary by Kunishima et al., 2011 and Nurden et al., 2011). For a discussion of genetic heterogeneity of Glanzmann thrombasthenia-like with macrothrombocytopenia, see 187800. [from OMIM]

Available tests

5 tests are in the database for this condition.

Clinical tests (5 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BDPLT16, BDPLT2, BDPLT24, CD61, GP3A, GPIIIa, GT, GT2, ITGB3
    Summary: integrin subunit beta 3

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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