| H00227 | |
| H number | H00227 |
| 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 |
| Network | - |
| Gene | MPL [HSA:4352] [KO:K05082] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 3B64.01 ICD-10: D69.4 OMIM: 604498 |
| Reference | PMID:19388932 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 PMID:19327586 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 PMID:17666371 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 PMID:16822462 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 |