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congenital amegakaryocytic thrombocytopenia
Genetics:
- associated with defects in MPL
Clinical manifestations: no physical anomalies
Laboratory:
- complete blood count: isolated thrombocytopenia
- bone marrow biopsy: megakaryocytopenia
- MPL gene mutation
Related
thrombopoietin receptor or myeloproliferative leukemia (MPL) gene
General
developmental disorder
genetic disease of the blood/bone marrow
Database Correlations
OMIM 604498
References
OMIM :accession 604498