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GTR Home > Conditions/Phenotypes > Thrombocytopenia 9

Thrombocytopenia 9

Synonyms
THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 9

Summary

Thrombocytopenia-9 (THC9) is an autosomal dominant condition characterized by low platelet counts in the absence of significant bleeding tendency. Some individuals may have mild mucocutaneous bleeding, whereas others do not show bleeding and thrombocytopenia may be an incidental finding. Platelets may show normal function and morphology or be slightly enlarged with platelet anisotropy (Noris et al., 2018; Cornish et al., 2020). For a discussion of genetic heterogeneity of thrombocytopenia, see 313900. [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: CAMT2, MGDF, MKCSF, ML, MPLLG, THC9, THCYT1, TPO, THPO
    Summary: thrombopoietin

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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