Conditions / Syndrome
thiamine-responsive megaloblastic anemia syndrome
info · Syndrome
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
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.
Signs and symptoms
- Thiamine-responsive megaloblastic anemia
- Diabetes mellitus
- Sensorineural hearing impairment
- Aminoaciduria
- Short stature
- Arrhythmia
- Nystagmus
- Ventricular septal defect
- Hoarse voice
- Sideroblastic anemia
Also known as: Rogers syndrome; THMD1; TRMA; thiamine metabolism dysfunction syndrome 1; thiamine-responsive anaemia syndrome