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Human Disease

thiamine-responsive megaloblastic anemia syndrome

Term ID
DOID:0090117
Synonyms
  • Rogers syndrome
  • thiamine metabolism dysfunction syndrome 1
  • thiamine-responsive anaemia syndrome
  • thiamine-responsive anemia syndrome
  • thiamine-responsive megaloblastic anaemia syndrome
  • thiamine-responsive megaloblastic anaemia with diabetes mellitus and sensorineural deafness
  • thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness
  • thiamine-responsive myelodysplasia
  • THMD1
  • TRMA
Definition
A syndrome that is characterized by megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness where the anemia and sometimes diabetes is repsonsive to high doses of thiamine, and that has_material_basis_in homozygous mutation in the solute carrier family 19 member 2 (SLC19A2) gene on chromosome 1q24. (3)
References
Ontology
Human Disease   ( DOID:0090117 )
Relationships
is a type of
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Genes Involved
Zebrafish Models