Congenital amegakaryocytic thrombocytopenia [Supplementary Concept]

A rare autosomal recessive disorder with onset in infancy and characterized by isolated thrombocytopenia and megakaryocytopenia with no physical anomalies. Mutations in the MPL gene have been identified. OMIM: 604498

Date introduced: August 25, 2010

MeSH Unique ID: C535982

Heading Mapped to:

• Thrombocytopenia
• Congenital Bone Marrow Failure Syndromes

Entry Terms:

• Amegakaryocytic Thrombocytopenia, Congenital