GTR Home > Conditions/Phenotypes > Congenital amegakaryocytic thrombocytopenia

Summary

Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare disorder expressed in infancy and characterized by isolated thrombocytopenia and megakaryocytopenia with no physical anomalies (Muraoka et al., 1997). King et al. (2005) proposed a new classification of CAMT based on the course and outcome of the disease, as exemplified by 20 patients: CAMT type I (11 patients) was characterized by early onset of severe pancytopenia, decreased bone marrow activity, and very low platelet counts. CAMT type II (9 patients) was somewhat milder and characterized by transient increases of platelet counts up to nearly normal values during the first year of life and an onset of bone marrow failure at age 3 or later. [from OMIM]

Available tests

59 tests are in the database for this condition.

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Genes See tests for all associated and related genes

  • Also known as: C-MPL, CD110, MPLV, THCYT2, THPOR, TPOR, MPL
    Summary: MPL proto-oncogene, thrombopoietin receptor

Clinical features

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