H01183 | |
H number | H01183 |
Name | Thiamine-responsive megaloblastic anemia |
Description | 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. |
Category | Inherited metabolic disorder |
Network | - |
Gene | SLC19A2 [HSA:10560] [KO:K14610] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | ICD-11: 5C63.Y ICD-10: D53.1 OMIM: 249270 |
Reference | PMID:21285901 AUTHORS Aycan Z, Bas VN, Cetinkaya S, Agladioglu SY, Kendirci HN, Senocak F TITLE Thiamine-responsive megaloblastic anemia syndrome with atrial standstill: a case report. JOURNAL J Pediatr Hematol Oncol 33:144-7 (2011) DOI:10.1097/MPH.0b013e31820030ae PMID:11358373 AUTHORS Neufeld EJ, Fleming JC, Tartaglini E, Steinkamp MP TITLE Thiamine-responsive megaloblastic anemia syndrome: a disorder of high-affinity thiamine transport. JOURNAL Blood Cells Mol Dis 27:135-8 (2001) DOI:10.1006/bcmd.2000.0356 PMID:20835854 AUTHORS Bay A, Keskin M, Hizli S, Uygun H, Dai A, Gumruk F TITLE Thiamine-responsive megaloblastic anemia syndrome. JOURNAL Int J Hematol 92:524-6 (2010) DOI:10.1007/s12185-010-0681-y |