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

More general terms

• genetic disease of the blood/bone marrow
• developmental disorder

Additional terms

• thrombopoietin receptor or myeloproliferative leukemia (MPL) gene

Database

• OMIM: https://mirror.omim.org/entry/604498