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Thiamine-responsive megaloblastic anemia syndrome

Disease definition

Thiamine-responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness.

ORPHA:49827

  • Synonym(s):
    • Rogers syndrome
    • TRMA
    • Thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: Q21.0
  • OMIM: 249270
  • UMLS: C0342287
  • MeSH: C536510
  • GARD: 9210
  • MedDRA: -

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