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GTR Home > Conditions/Phenotypes > Congenital amegakaryocytic thrombocytopenia 1

Congenital amegakaryocytic thrombocytopenia 1

Summary

Congenital amegakaryocytic thrombocytopenia-1 (CAMT1) is an autosomal recessive disorder characterized by onset of thrombocytopenia and megakaryocytopenia in infancy or early childhood. The disorder is progressive and evolves to pancytopenia and bone marrow failure. Serum thrombopoietin is elevated. There is a favorable response to bone marrow transplantation (Muraoka et al., 1997; King et al., 2005). Genetic Heterogeneity of Congenital Amegakaryocytic Thrombocytopenia CAMT2 (620481) is caused by mutation in the THPO gene (600044) on chromosome 3q27. [from OMIM]

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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Imported from Human Phenotype Ontology (HPO)

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