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GTR Home > Conditions/Phenotypes > Platelet-type bleeding disorder 16

Platelet-type bleeding disorder 16

Synonyms
Bleeding disorder, platelet-type, 16, autosomal dominant

Summary

Platelet-type bleeding disorder-16 (BDPLT16) 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). Genetic Heterogeneity of Glanzmann Thrombasthenia-like with Macrothromocytopenia See BDPLT24 (619271), caused by mutation in the ITGB3 gene (173470) on chromosome 17q21.32. Together the ITGB2B and ITBG3 genes form an integrin, known as platelet glycoprotein GPIIb/III, that is expressed on platelets. [from OMIM]

Available tests

37 tests are in the database for this condition.

Clinical tests (37 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BDPLT16, BDPLT2, CD41, CD41B, GP2B, GPIIb, GT, GT1, GTA, HPA3, PPP1R93, ITGA2B
    Summary: integrin subunit alpha 2b

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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