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GTR Home > Conditions/Phenotypes > Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness

Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness

Synonyms
ROGERS SYNDROME; THIAMINE METABOLISM DYSFUNCTION SYNDROME 1 (MEGALOBLASTIC ANEMIA, DIABETES MELLITUS, AND DEAFNESS TYPE); THIAMINE-RESPONSIVE ANEMIA SYNDROME; THIAMINE-RESPONSIVE MYELODYSPLASIA; Thiamine-Responsive Megaloblastic Anemia Syndrome
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Thiamine-responsive megaloblastic anemia syndrome (TRMA) is characterized by megaloblastic anemia, progressive sensorineural hearing loss, and diabetes mellitus. Onset of megaloblastic anemia occurs between infancy and adolescence. The anemia is corrected with thiamine treatment, but the red cells remain macrocytic and anemia can recur if treatment is withdrawn. Progressive sensorineural hearing loss often occurs early and can be detected in toddlers; hearing loss is irreversible and may not be prevented by thiamine treatment. The diabetes mellitus is non-type I in nature, with age of onset from infancy to adolescence. Thiamine treatment may reduce insulin requirement and delay onset of diabetes in some individuals. [from GeneReviews]

Available tests

51 tests are in the database for this condition.

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Clinical tests (51 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: TC1, THMD1, THT1, THTR1, TRMA, SLC19A2
    Summary: solute carrier family 19 member 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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