Congenital amegakaryocytic thrombocytopenia

Summary

A rare inherited bone marrow failure syndrome with manifestation of an isolated and severe decrease in the number of platelets and megakaryocytes during the first years of life that develops into bone marrow failure with pancytopenia later in childhood. The exact prevalence is unknown and less than 100 cases have been reported in the literature. The inheritance pattern is autosomal recessive. [from SNOMEDCT_US]

Available tests

79 tests are in the database for this condition.

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Clinical tests (79 available)

Biochemical Genetics Tests

Enzyme assay (3)

Molecular Genetics Tests

Genes See tests for all associated and related genes

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