thiamine-responsive megaloblastic anemia syndrome (DOID:0090117)
Alliance: disease page
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
Alt IDs: OMIM:249270, MESH:C536510, ORDO:498277, UMLS_CUI:C0342287
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.