DISEASES

Disease-gene associations mined from literature

Human genes for thiamine-responsive megaloblastic anemia syndrome

Thiamine-responsive megaloblastic anemia syndrome [DOID:0090117]

An autosomal recessive disease 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 that has_material_basis_in homozygous mutation in the SLC19A2 gene on chromosome 1q24.

Synonyms:  thiamine-responsive megaloblastic anemia syndrome,  DOID:0090117,  thiamineresponsive megaloblastic anemia syndrome,  thiamine-responsive megaloblastic anemia disease,  thiamine-responsive megaloblastic anemia disorder ...