| H01183 | |
| H番号 | H01183 |
| 名称 | ビタミン B1 反応性巨赤芽球性貧血症 |
| 概要 | Thiamine-responsive megaloblastic anemia (TRMA), also known as Rogers syndrome, is a rare autosomal recessive inherited disorder characterized by megaloblastic anemia, diabetes mellitus, and progressive sensorineural deafness, due to mutations in SLC19A2, encoding a high-affinity thiamine transporter protein. In addition to the cardinal components, other findings are also reported in TRMA syndrome including congenital heart disease, arrhythmias, cardiomyopathy, retinal degeneration, optic atrophy, situs inversus, aminoaciduria, and stroke. |
| カテゴリ | 先天性代謝異常症 |
| ネットワーク | - |
| 病因遺伝子 | SLC19A2 [HSA:10560] [KO:K14610] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 5C63.Y ICD-10: D53.1 OMIM: 249270 |
| 文献 | PMID:21285901 著者 Aycan Z, Bas VN, Cetinkaya S, Agladioglu SY, Kendirci HN, Senocak F タイトル Thiamine-responsive megaloblastic anemia syndrome with atrial standstill: a case report. 雑誌 J Pediatr Hematol Oncol 33:144-7 (2011) DOI:10.1097/MPH.0b013e31820030ae PMID:11358373 著者 Neufeld EJ, Fleming JC, Tartaglini E, Steinkamp MP タイトル Thiamine-responsive megaloblastic anemia syndrome: a disorder of high-affinity thiamine transport. 雑誌 Blood Cells Mol Dis 27:135-8 (2001) DOI:10.1006/bcmd.2000.0356 PMID:20835854 著者 Bay A, Keskin M, Hizli S, Uygun H, Dai A, Gumruk F タイトル Thiamine-responsive megaloblastic anemia syndrome. 雑誌 Int J Hematol 92:524-6 (2010) DOI:10.1007/s12185-010-0681-y |