" /> Thrombocythemia 3 - CISMeF





Preferred Label : Thrombocythemia 3;

Symbol : THCYT3;

CISMeF acronym : THCYT3;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Thrombocytosis 3;

Description : Thrombocythemia-3 is an autosomal dominant hematologic disorder characterized by increased platelet production resulting in increased numbers of circulating platelets. Thrombocythemia can be associated with thrombotic episodes, such as cerebrovascular events or myocardial infarction (summary by Mead et al., 2012). For a discussion of genetic heterogeneity of thrombocythemia, see THCYT1 (187950).;

Inheritance : Autosomal dominant; Somatic mutation;

Molecular basis : Caused by mutation in the janus kinase 2 gene (JAK2, 147796.0001);

Prefixed ID : #614521;

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31/07/2025


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