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GTR Home > Conditions/Phenotypes > Bleeding disorder, platelet-type, 13, susceptibility to

Bleeding disorder, platelet-type, 13, susceptibility to

Synonyms
BLEEDING DISORDER, SUSCEPTIBILITY TO, DUE TO DEFECTIVE PLATELET THROMBOXANE A2 RECEPTOR

Summary

Susceptibility to platelet-type bleeding disorder-13 (BDPLT13) is due to a defective thromboxane A2 receptor on platelets. The susceptibility is inherited in an autosomal dominant pattern, but clinical features, including mild mucocutaneous bleeding, occur only in the presence of a 'second hit' affecting platelet function; this second hit may be either in the TBXA2R gene or in another gene affecting the coagulation cascade (summary by Mumford et al., 2010). [from OMIM]

Available tests

23 tests are in the database for this condition.

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Clinical tests (23 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BDPLT13, TXA2-R, TBXA2R
    Summary: thromboxane A2 receptor

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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