エントリ 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. Recently, it has been reported that recessive mutations in the THPO gene are a novel cause of this disease.
カテゴリ 血液疾患
階層分類 ICD-11 による疾患分類 [BR:jp08403 ] BRITE hierarchy パスウェイ hsa04060 Cytokine-cytokine receptor interaction
病因遺伝子 リンク 文献 著者 Ballmaier M, Germeshausen M
タイトル Advances in the understanding of congenital amegakaryocytic thrombocytopenia.
雑誌 文献 著者 Geddis AE
タイトル Congenital amegakaryocytic thrombocytopenia and thrombocytopenia with absent radii.
雑誌 文献 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 文献 著者 Geddis AE
タイトル Inherited thrombocytopenia: Congenital amegakaryocytic thrombocytopenia and thrombocytopenia with absent radii.
雑誌 文献 著者 Ihara K, Ishii E, Eguchi M, Takada H, Suminoe A, Good RA, Hara T
タイトル Identification of mutations in the c-mpl gene in congenital amegakaryocytic thrombocytopenia.
雑誌 文献 著者 Dasouki MJ, Rafi SK, Olm-Shipman AJ, Wilson NR, Abhyankar S, Ganter B, Furness LM, Fang J, Calado RT, Saadi I
タイトル Exome sequencing reveals a thrombopoietin ligand mutation in a Micronesian family with autosomal recessive aplastic anemia.
雑誌 LinkDB All DBs
