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GTR Home > Conditions/Phenotypes > Bleeding disorder, platelet-type, 25

Bleeding disorder, platelet-type, 25

Summary

Platelet-type bleeding disorder-25 (BDPLT25) is an autosomal dominant condition characterized by increased susceptibility to bleeding episodes due to decreased or dysfunctional platelets. Some individuals have decreased numbers of enlarged platelets or macrothrombocytopenia, whereas others have normal numbers of enlarged platelets. Platelet morphologic and functional defects are variable (Pleines et al., 2017; Stapley et al., 2022; Marin-Quilez et al., 2022). For a discussion of genetic heterogeneity of BDPLT, see 231200. [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: BDPLT25, HEL-S-108, TPM4
    Summary: tropomyosin 4

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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