KEGG   DISEASE: Congenital amegakaryocytic thrombocytopeniaHelp
Entry
H00227                      Disease                                

Name
Congenital amegakaryocytic thrombocytopenia
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
Human diseases [BR:br08402]
 Cardiovascular diseases
  Hematologic diseases
   H00227  Congenital amegakaryocytic thrombocytopenia
Human diseases in ICD-11 classification [BR:br08403]
 03 Diseases of the blood or blood-forming organs
  Coagulation defects, purpura or other haemorrhagic or related conditions
   Fibrinolytic defects
    3B64  Thrombocytopenia
     H00227  Congenital amegakaryocytic thrombocytopenia
BRITE hierarchy
Pathway
hsa04060  Cytokine-cytokine receptor interaction
Gene
MPL [HSA:4352] [KO:K05082]
Other DBs
ICD-11: 3B64.01
ICD-10: D69.4
OMIM: 604498
Reference
  Authors
Ballmaier M, Germeshausen M
  Title
Advances in the understanding of congenital amegakaryocytic thrombocytopenia.
  Journal
Br J Haematol 146:3-16 (2009)
DOI:10.1111/j.1365-2141.2009.07706.x
Reference
  Authors
Geddis AE
  Title
Congenital amegakaryocytic thrombocytopenia and thrombocytopenia with absent radii.
  Journal
Hematol Oncol Clin North Am 23:321-31 (2009)
DOI:10.1016/j.hoc.2009.01.012
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)
DOI:10.3324/haematol.11425
Reference
  Authors
Geddis AE
  Title
Inherited thrombocytopenia: Congenital amegakaryocytic thrombocytopenia and thrombocytopenia with absent radii.
  Journal
Semin Hematol 43:196-203 (2006)
DOI:10.1053/j.seminhematol.2006.04.003

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