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

• GARD:9210
• MESH:C536510
• OMIM:249270
• ORDO:498277
• SNOMEDCT_US_2023_03_01:237617006
• UMLS_CUI:C0342287

Ontology

Human Disease   ( DOID:0090117 )