OBO ID: DOID:0090117
Term Name: thiamine-responsive megaloblastic anemia syndrome Search Ontology:
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)
OTHER thiamine-responsive megaloblastic anemia syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SLC19A2 Thiamine-responsive megaloblastic anemia syndrome 249270
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None