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Start free with EleplanThiamine-responsive megaloblastic anemia syndrome
ORPHA:49827Disease
Also called Rogers syndrome · TRMA · Thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness · Thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural hearing loss
What it is
Thiamine-responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Childhood
- Inheritance
- Autosomal recessive
- Classified as
- Disease
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Very common80–99%
9Sometimes5–29%
9- Atrial septal defect
- Cardiac arrest
- Congestive heart failure
- Paroxysmal atrial tachycardia
- Retinal dystrophy
- Short stature
- Stroke
- Ventricular septal defect
and 1 more in this range
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Gene
ICD-10 codes
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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