KEGG   DISEASE: H00227Help
Entry
H00227                      Disease                                

Name
Congenital amegakaryocytic thrombocytopenia (CAMT)
Description
Congenital amegakaryocytic thrombocytopenia (CAMT) is an autosomal recessive bone marrow failure syndrome, characterized by thrombocytopenia due to defective megakaryocytopoiesis. The disorder is induced by defective expression or function of the thrombopoietin (THPO) receptor caused by mutations in the MPL gene.
Category
Hematologic disease
BRITE hierarchy
Pathway
Cytokine-cytokine receptor interaction
Gene
MPL [HSA:4352] [KO:K05082]
Marker
THPO [HSA:7066]
Other DBs
ICD-10: 
OMIM: 
Reference
  Authors
Ballmaier M, Germeshausen M
  Title
Advances in the understanding of congenital amegakaryocytic thrombocytopenia.
  Journal
Br J Haematol 146:3-16 (2009)
Reference
  Authors
Geddis AE
  Title
Congenital amegakaryocytic thrombocytopenia and thrombocytopenia with absent radii.
  Journal
Hematol Oncol Clin North Am 23:321-31 (2009)
Reference
  Authors
Savoia A, Dufour C, Locatelli F, Noris P, Ambaglio C, Rosti V, Zecca M, Ferrari S, di Bari F, Corcione A, Di Stazio M, Seri M, Balduini CL
  Title
Congenital amegakaryocytic thrombocytopenia: clinical and biological consequences of five novel mutations.
  Journal
Haematologica 92:1186-93 (2007)
Reference
  Authors
Geddis AE
  Title
Inherited thrombocytopenia: Congenital amegakaryocytic thrombocytopenia and thrombocytopenia with absent radii.
  Journal
Semin Hematol 43:196-203 (2006)

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