Congenital amegakaryocytic thrombocytopenia Gene Set

Dataset ClinVar Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare inherited bone marrow failure syndrome characterized by 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. (Orphanet Rare Disease Ontology, Orphanet_3319)
External Link http://www.omim.org/entry/604498
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Genes

1 genes associated with the Congenital amegakaryocytic thrombocytopenia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Symbol Name
MPL MPL proto-oncogene, thrombopoietin receptor