KEGG   DISEASE: Thiamine-responsive megaloblastic anemia
Entry
H01183                      Disease                                
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 disease
Brite
Human diseases [BR:br08402]
 Cardiovascular diseases
  Hematologic diseases
   H01183  Thiamine-responsive megaloblastic anemia
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Disorders of metabolite absorption or transport
    5C63  Disorders of vitamin or non-protein cofactor absorption or transport
     H01183  Thiamine-responsive megaloblastic anemia
Related
pathway
hsa04977  Vitamin digestion and absorption
Gene
SLC19A2 [HSA:10560] [KO:K14610]
Other DBs
ICD-11: 5C63.Y
ICD-10: D53.1
OMIM: 249270
Reference
  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
Reference
  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
Reference
  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
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