Thiamine-responsive megaloblastic anemia syndrome

Also known as: Rogers syndrome

Megaloblastic anemia, diabetes and sensorineural deafness responsive to thiamine.

Medical specialty: Hematology
Subspecialty: Hematology / Vitamin deficiencies
Sex & age distribution: Male: affected; Female: affected equally; Children: yes
Gene(s) involved: SLC19A2

Etiology & mechanism

Thiamine transporter defect.

Gene(s) involved (1)

SLC19A2

Symptoms & signs (5)

cardiac defectsdiabetes mellitusmegaloblastic anemiaoptic atrophysensorineural deafness

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.