thiamine-responsive megaloblastic anemia syndrome
Findings
No curated finding names thiamine-responsive megaloblastic anemia syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Thiamine-responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness.
Definition from the Mondo Disease Ontology (MONDO:0009575), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Juvenile onset · Young adult onset · Childhood onset
HPO, annotations 2026-09-02
Features
21 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Diabetes mellitusHPOHP:0000819
- 7 of 7 reported patients
- Very frequent (80% to 99% of cases)
- Thiamine-responsive megaloblastic anemiaHPOHP:0004860
- 7 of 7 reported patients
- Sensorineural hearing impairmentHPOHP:0000407
- 6 of 7 reported patients
- Very frequent (80% to 99% of cases)
- AnorexiaHPOHP:0002039
- Very frequent (80% to 99% of cases)
- DiarrheaHPOHP:0002014
- Very frequent (80% to 99% of cases)
- HeadacheHPOHP:0002315
- Very frequent (80% to 99% of cases)
Show the remaining 9
- Atrial septal defectHPOHP:0001631
- Occasional (5% to 29% of cases)
- Cardiac arrestHPOHP:0001695
- Occasional (5% to 29% of cases)
- Congestive heart failureHPOHP:0001635
- Occasional (5% to 29% of cases)
- Paroxysmal atrial tachycardiaHPOHP:0006671
- Occasional (5% to 29% of cases)
- Retinal dystrophyHPOHP:0000556
- Occasional (5% to 29% of cases)
- Short statureHPOHP:0004322
- Occasional (5% to 29% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- SLC19A2HGNC:10938
- Definitive · Ambry Genetics · Autosomal recessive · 2018
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
7 names
Resolves to: thiamine-responsive megaloblastic anemia syndrome
- Also called
- Rogers syndromethiamine metabolism dysfunction syndrome 1thiamine-responsive anemia syndromethiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafnessthiamine-responsive myelodysplasiaTHMD1TRMA