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Thiamine-responsive megaloblastic anemia syndrome
rareThiamine-responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness.
- Identifiers
- MONDO:0009575 OMIM:249270Orphanet:49827
- Causal genes
- SLC19A2
- Part of
- Autosomal recessive diseaseThiamine-responsive dysfunction syndromeVitamin B12- and folate-independent constitutional megaloblastic anemia
- Also known as
- megaloblastic anaemia thiamine-responsive with diabetes mellitus and sensorineural deafness · megaloblastic anemia thiamine-responsive with diabetes mellitus and sensorineural deafness · Rogers syndrome · thiamine metabolism dysfunction syndrome 1 · thiamine responsive megaloblastic anaemia syndrome
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