" /> Thrombocythemia 1 - CISMeF





Preferred Label : Thrombocythemia 1;

Symbol : THCYT1;

CISMeF acronym : THCYT1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Thrombocytosis 1;

Description : Thrombocythemia, or thrombocytosis, is a myeloproliferative disorder characterized by excessive platelet production resulting in increased numbers of circulating platelets. Thrombocythemia can be associated with thrombotic or hemorrhagic episodes and occasional leukemic transformation (summary by Wiestner et al., 1998). - Genetic Heterogeneity of Thrombocythemia;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the thrombopoietin gene (THPO, 600044.0001);

Laboratory abnormalities : Increased serum thrombopoietin may occur;

Prefixed ID : #187950;

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31/07/2025


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