Summary Literature (0)

DOID:0090117 - thiamine-responsive megaloblastic anemia syndrome

Disease Ontology Definition: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: Rogers syndrome, THMD1, TRMA, thiamine metabolism dysfunction syndrome 1 (megaloblastic anemia, diabetes mellitus and deafness type), thiamine-responsive anemia syndrome, thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness, thiamine-responsive myelodysplasia,

Echinobase Genes :


OMIM:

MIM:249270 - thiamine-responsive megaloblastic anemia syndrome; trma

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee