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GTR Home > Conditions/Phenotypes > Platelet-type bleeding disorder 15

Platelet-type bleeding disorder 15

Synonyms
MACROTHROMBOCYTOPENIA, AUTOSOMAL DOMINANT, ACTN1-RELATED

Summary

Platelet-type bleeding disorder-15 is an autosomal dominant form of macrothrombocytopenia. Affected individuals usually have no or only mild bleeding tendency, such as epistaxis. Laboratory studies show decreased numbers of large platelets and anisocytosis, but the platelets show no in vitro functional abnormalities (summary by Kunishima et al., 2013). [from OMIM]

Available tests

22 tests are in the database for this condition.

Clinical tests (22 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BDPLT15, ACTN1
    Summary: actinin alpha 1

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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