| H00227 | |
| H番号 | H00227 |
| 名称 | 先天性無巨核球性血小板減少症 |
| 概要 | 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. |
| カテゴリ | 血液疾患 |
| ネットワーク | - |
| 病因遺伝子 | MPL [HSA:4352] [KO:K05082] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 3B64.01 ICD-10: D69.4 OMIM: 604498 |
| 文献 | PMID:19388932 著者 Ballmaier M, Germeshausen M タイトル Advances in the understanding of congenital amegakaryocytic thrombocytopenia. 雑誌 Br J Haematol 146:3-16 (2009) DOI:10.1111/j.1365-2141.2009.07706.x PMID:19327586 著者 Geddis AE タイトル Congenital amegakaryocytic thrombocytopenia and thrombocytopenia with absent radii. 雑誌 Hematol Oncol Clin North Am 23:321-31 (2009) DOI:10.1016/j.hoc.2009.01.012 PMID:17666371 著者 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 タイトル Congenital amegakaryocytic thrombocytopenia: clinical and biological consequences of five novel mutations. 雑誌 Haematologica 92:1186-93 (2007) DOI:10.3324/haematol.11425 PMID:16822462 著者 Geddis AE タイトル Inherited thrombocytopenia: Congenital amegakaryocytic thrombocytopenia and thrombocytopenia with absent radii. 雑誌 Semin Hematol 43:196-203 (2006) DOI:10.1053/j.seminhematol.2006.04.003 |