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GTR Home > Conditions/Phenotypes > Macrothrombocytopenia, isolated, 2, autosomal dominant

Macrothrombocytopenia, isolated, 2, autosomal dominant

Summary

Autosomal dominant isolated macrothrombocytopenia-2 (MACTHC2) is characterized by the finding of low platelet numbers and abnormally large platelets with irregular shapes. Affected individuals do not have increased bleeding episodes; macrothrombocytopenia is usually an incidental laboratory finding (Kimmerlin et al., 2022) For a discussion of genetic heterogeneity of MACTHC, see MACTHC1 (613112). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: CDCBM8, MACTHC2, TUBAL2, TUBA8
    Summary: tubulin alpha 8

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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